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詳細

加藤　光広Kato Mitsuhiro

■所属部署名小児科
■職名教授(員外)
Last Updated :2025/04/01

研究者情報

基本情報

プロフィール情報

  • 氏名

    加藤　光広, Kato Mitsuhiro

所属

  • 小児科, 教授(員外)

施設

  • 大学病院

学位

  • 博士(医学), 山形大学, 1996年09月

研究キーワード

  • 小児神経学、遺伝学、脳形成異常、てんかん

所属学協会

  • 日本小児科学会 日本小児神経学会 日本人類遺伝学会 日本てんかん学会 アメリカ人類遺伝学会 国際小児神経学会

受賞

  • 第13回小児医学川野賞(2013)、山形大学医学会学術賞特別賞（金賞)(2013)、第３回鳥取大学小児神経科学賞（竹下研三賞）(2011)、第1回日本小児科学会学術研究賞(2011)、JSCN Award for Excellence (日本小児神経学会), PAS/ASPR合同学会, Denver(2011)、Tadokoro award (第8回アジア・オセアニアてんかん学会 メルボルン)(2010)、日本てんかん学会JUHN & MARY WADA奨励賞(2009)、日本人類遺伝学会奨励賞(2008)、山形大学医学部　Excellent teacher Award(2005)、他

学術貢献活動

  • 国際小児神経学会　理事(2018年11月〜） 小児神経症例検討会（蔵王セミナー）　事務局 日本小児神経学会　専門医・評議員・国際化推進委員会委員長・震災対策委員会委員・長期計画委員会委員 日本てんかん学会　てんかん専門医・評議員・薬事委員会委員 日本小児科学会　専門医・指導医 日本人類遺伝学会　臨床遺伝専門医・評議員 ‘Pediatric Neurology’　Editorial board member

業績

論文

  • 医療的ケア児支援法施行後の教育機関と養育者の意識調査　教育と医療の円滑な連携に向けて, 日隈 のどか;小林 梢;加藤 光広, 脳と発達, 56(3):213, 2024年05月, 原著, 査読あり
  • A case of infantile epileptic spasms syndrome and autism spectrum disorder with an RFX3 mutation., Torio Michiko;Maeda Kenichi;Akamine Satoshi;Kawakami Saori;Matsubara Yoshie;Miya Fuyuki;Kato Mitsuhiro;Kira Ryutaro, Seizure, 112, 2023年09月
  • Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy., Sano Kentaro;Miya Fuyuki;Kato Mitsuhiro;Omata Taku;Takanashi Jun-Ichi, Brain & development, 45(10):583 - 587, 2023年08月, 原著
  • Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome., Yoh Yuri;Shiohama Tadashi;Uchida Tomoko;Ebata Ryota;Kobayashi Hironobu;Okunushi Kentaro;Kato Mitsuhiro;Watanabe Kazuki;Nakashima Mitsuko;Saitsu Hirotomo;Hamada Hiromichi, Frontiers in genetics, 14:1221745, 2023年08月, 原著
  • Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration, Annalisa Vetro; Cristiana Pelorosso; Simona Balestrini; Alessio Masi; Sophie Hambleton; Emanuela Argilli; Valerio Conti; Simone Giubbolini; Rebekah Barrick; Gaber Bergant; Karin Writzl; Emilia K. Bijlsma; Theresa Brunet; Pilar Cacheiro; Davide Mei; Anita Devlin; Mariëtte J.V. Hoffer; Keren Machol; Guido Mannaioni; Masamune Sakamoto; Manoj P. Menezes; Thomas Courtin; Elliott Sherr; Riccardo Parra; Ruth Richardson; Tony Roscioli; Marcello Scala; Celina von Stülpnagel; Damian Smedley; Annalaura Torella; Jun Tohyama; Reiko Koichihara; Keisuke Hamada; Kazuhiro Ogata; Takashi Suzuki; Atsushi Sugie; Jasper J. van der Smagt; Koen van Gassen; Stephanie Valence; Emma Vittery; Stephen Malone; Mitsuhiro Kato; Naomichi Matsumoto; Gian Michele Ratto; Renzo Guerrini; Francesca Pochiero; Francesco Mari; Venkateswaran Ramesh; Valeria Capra; Margherita Mancardi; Boris Keren; Cyiril Mignot; Matteo Lulli; Kendall Parks; Helen Griffin; Melanie Brugger; Vincenzo Nigro; Yuko Hirata; Reiko Koichihara; Borut Peterlin; Yuko Hirata; Ryuto Maki; Yohei Nitta; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Matthew A. Brown; Mark J. Caulfield; Georgia C. Chan; Adam Giess; John N. Griffin; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Anna Lakey; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Jonathan Mitchell; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Daniel Perez-Gil; Marina B. Pereira; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Magdalena Zarowiecki, The American Journal of Human Genetics, 110(8):1356 - 1376, 2023年07月
  • The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus., Kobayashi Yu;Tohyama Jun;Akasaka Noriyuki;Yamada Kei;Hojo Moemi;Seki Eijun;Miura Masaki;Soma Noriko;Ono Takeshi;Kato Mitsuhiro;Nakashima Mitsuko;Saitsu Hirotomo;Matsumoto Naomichi, Human genome variation, 10(1):20, 2023年06月
  • An integrated genetic analysis of epileptogenic brain malformed lesions., Fujita Atsushi;Kato Mitsuhiro;Sugano Hidenori;Iimura Yasushi;Suzuki Hiroharu;Tohyama Jun;Fukuda Masafumi;Ito Yosuke;Baba Shimpei;Okanishi Tohru;Enoki Hideo;Fujimoto Ayataka;Yamamoto Akiyo;Kawamura Kentaro;Kato Shinsuke;Honda Ryoko;Ono Tomonori;Shiraishi Hideaki;Egawa Kiyoshi;Shirai Kentaro;Yamamoto Shinji;Hayakawa Itaru;Kawawaki Hisashi;Saida Ken;Tsuchida Naomi;Uchiyama Yuri;Hamanaka Kohei;Miyatake Satoko;Mizuguchi Takeshi;Nakashima Mitsuko;Saitsu Hirotomo;Miyake Noriko;Kakita Akiyoshi;Matsumoto Naomichi, Acta neuropathologica communications, 11(1):33, 2023年03月, 原著
  • Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II., Shiraishi Hideaki;Teramoto Tsuyoshi;Yokoshiki Saki;Tohyama Jun;Ueda Yuki;Egawa Kiyoshi;Sato Norihiro;Manabe Atsushi;Kato Mitsuhiro, Brain & development, 45(6):343 - 347, 2023年03月, 原著
  • Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome., Nabatame Shin;Tanigawa Junpei;Tominaga Koji;Kagitani-Shimono Kuriko;Yanagihara Keiko;Imai Katsumi;Ando Toru;Tsuyusaki Yu;Araya Nami;Matsufuji Mayumi;Natsume Jun;Yuge Kotaro;Bratkovic Drago;Arai Hiroshi;Okinaga Takeshi;Matsushige Takeshi;Azuma Yoshiteru;Ishihara Naoko;Miyatake Satoko;Kato Mitsuhiro;Matsumoto Naomichi;Okamoto Nobuhiko;Takahashi Satoru;Hattori Satoshi;Ozono Keiichi, Journal of the neurological sciences, 447:120597, 2023年03月, 原著
  • Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome., Miyamoto Sachiko;Nakamura Kazuyuki;Kato Mitsuhiro;Nakashima Mitsuko;Saitsu Hirotomo, Annals of human genetics, 87(4):196 - 202, 2023年03月
  • Molecular diagnosis of 405 individuals with autism spectrum disorder., Miyake Noriko;Tsurusaki Yoshinori;Fukai Ryoko;Kushima Itaru;Okamoto Nobuhiko;Ohashi Kei;Nakamura Kazuhiko;Hashimoto Ryota;Hiraki Yoko;Son Shuraku;Kato Mitsuhiro;Sakai Yasunari;Osaka Hitoshi;Deguchi Kimiko;Matsuishi Toyojiro;Takeshita Saoko;Fattal-Valevski Aviva;Ekhilevitch Nina;Tohyama Jun;Yap Patrick;Keng Wee Teik;Kobayashi Hiroshi;Takubo Keiyo;Okada Takashi;Saitoh Shinji;Yasuda Yuka;Murai Toshiya;Nakamura Kazuyuki;Ohga Shouichi;Matsumoto Ayumi;Inoue Ken;Saikusa Tomoko;Hershkovitz Tova;Kobayashi Yu;Morikawa Mako;Ito Aiko;Hara Toshiro;Uno Yota;Seiwa Chizuru;Ishizuka Kanako;Shirahata Emi;Fujita Atsushi;Koshimizu Eriko;Miyatake Satoko;Takata Atsushi;Mizuguchi Takeshi;Ozaki Norio;Matsumoto Naomichi, European journal of human genetics : EJHG, 2023年03月
  • 【その道のプロの経験から学ぶ　小児診療のピットフォール】神経疾患, 加藤 光広, 小児科, 64(2):112 - 117, 2023年02月
  • Synchronous heart rate reduction with suppression-burst pattern in KCNT1-related developmental and epileptic encephalopathies., Yamamoto Kaoru;Baba Shimpei;Saito Takashi;Nakagawa Eiji;Sugai Kenji;Iwasaki Masaki;Fujita Atsushi;Fukuda Hiromi;Mizuguchi Takeshi;Kato Mitsuhiro;Matsumoto Naomichi;Sasaki Masayuki, Epilepsia open, 8(2):651 - 658, 2023年02月
  • ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report., Moriyama Kengo;Mizuno Tomoko;Suzuki Tomonori;Inaji Motoki;Maehara Taketoshi;Fujita Atsushi;Kato Mitsuhiro;Matsumoto Naomichi, Brain & development, 45(1):77 - 81, 2023年01月, 原著
  • 【小児疾患診療のための病態生理　3　改訂第6版】神経疾患　大脳の形成異常　脳梁欠損,全前脳胞症,滑脳症,異所性灰白質, 加藤 光広, 小児内科, 54(増刊):246 - 252, 2022年12月
  • De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities., Nakashima Mitsuko;Argilli Emanuela;Nakano Sayaka;Sherr Elliott H;Kato Mitsuhiro;Saitsu Hirotomo, Journal of human genetics, 68(4):291 - 298, 2022年12月
  • A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome., Hiraide Takuya;Akita Tenpei;Uematsu Kenji;Miyamoto Sachiko;Nakashima Mitsuko;Sasaki Masayuki;Fukuda Atsuo;Kato Mitsuhiro;Saitsu Hirotomo, Journal of human genetics, 68(1), 2022年10月
  • Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy., Sakamoto Masamune;Iwama Kazuhiro;Sasaki Masayuki;Ishiyama Akihiko;Komaki Hirofumi;Saito Takashi;Takeshita Eri;Shimizu-Motohashi Yuko;Haginoya Kazuhiro;Kobayashi Tomoko;Goto Tomohide;Tsuyusaki Yu;Iai Mizue;Kurosawa Kenji;Osaka Hitoshi;Tohyama Jun;Kobayashi Yu;Okamoto Nobuhiko;Suzuki Yume;Kumada Satoko;Inoue Kenji;Mashimo Hideaki;Arisaka Atsuko;Kuki Ichiro;Saijo Harumi;Yokochi Kenji;Kato Mitsuhiro;Inaba Yuji;Gomi Yuko;Saitoh Shinji;Shirai Kentaro;Morimoto Masafumi;Izumi Yuishin;Watanabe Yoriko;Nagamitsu Shin-Ichiro;Sakai Yasunari;Fukumura Shinobu;Muramatsu Kazuhiro;Ogata Tomomi;Yamada Keitaro;Ishigaki Keiko;Hirasawa Kyoko;Shimoda Konomi;Akasaka Manami;Kohashi Kosuke;Sakakibara Takafumi;Ikuno Masashi;Sugino Noriko;Yonekawa Takahiro;Gürsoy Semra;Cinleti Tayfun;Kim Chong Ae;Teik Keng Wee;Yan Chan Mei;Haniffa Muzhirah;Ohba Chihiro;Ito Shuuichi;Saitsu Hirotomo;Saida Ken;Tsuchida Naomi;Uchiyama Yuri;Koshimizu Eriko;Fujita Atsushi;Hamanaka Kohei;Misawa Kazuharu;Miyatake Satoko;Mizuguchi Takeshi;Miyake Noriko;Matsumoto Naomichi, Genetics in medicine : official journal of the American College of Medical Genetics, 24(12):2453 - 2463, 2022年10月
  • 【一般小児科医のための小児てんかん診療ガイド】素因性の小児てんかん　診断のポイント, 加藤 光広, 小児科, 63(9):982 - 989, 2022年09月
  • A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode., Marafi Dana;Kozar Nina;Duan Ruizhi;Bradley Stephen;Yokochi Kenji;Al Mutairi Fuad;Saadi Nebal Waill;Whalen Sandra;Brunet Theresa;Kotzaeridou Urania;Choukair Daniela;Keren Boris;Nava Caroline;Kato Mitsuhiro;Arai Hiroshi;Froukh Tawfiq;Faqeih Eissa Ali;AlAsmari Ali M;Saleh Mohammed M;Pinto E Vairo Filippo;Pichurin Pavel N;Klee Eric W;Schmitz Christopher T;Grochowski Christopher M;Mitani Tadahiro;Herman Isabella;Calame Daniel G;Fatih Jawid M;Du Haowei;Coban-Akdemir Zeynep;Pehlivan Davut;Jhangiani Shalini N;Gibbs Richard A;Miyatake Satoko;Matsumoto Naomichi;Wagstaff Laura J;Posey Jennifer E;Lupski James R;Meijer Dies;Wagner Matias, American journal of human genetics, 109(9):1713 - 1723, 2022年08月
  • Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report., Kobayashi Hikaru;Matsushige Takeshi;Hoshide Madoka;Hidaka Ippei;Ichiyama Takashi;Kato Mitsuhiro;Miya Fuyuki;Hasegawa Shunji, Seizure, 101:8 - 10, 2022年07月, 原著
  • 【知っておくべき周産期・新生児領域の遺伝学的検査を展望する】てんかん　神経疾患、Dravet症候群, 加藤 光広, 周産期医学, 52(5):697 - 700, 2022年05月
  • Monogenic causes of pigmentary mosaicism., Saida Ken;Chong Pin Fee;Yamaguchi Asuka;Saito Naka;Ikehara Hajime;Koshimizu Eriko;Miyata Rie;Ishiko Akira;Nakamura Kazuyuki;Ohnishi Hidenori;Fujioka Kei;Sakakibara Takafumi;Asada Hideo;Ogawa Kohei;Kudo Kyoko;Ohashi Eri;Kawai Michiko;Abe Yuichi;Tsuchida Naomi;Uchiyama Yuri;Hamanaka Kohei;Fujita Atsushi;Mizuguchi Takeshi;Miyatake Satoko;Miyake Noriko;Kato Mitsuhiro;Kira Ryutaro;Matsumoto Naomichi, Human genetics, 141(11):1771 - 1784, 2022年05月
  • A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3., Abe Kazuo;Ando Kumiko;Kato Mitsuhiro;Saitsu Hirotomo;Nakashima Mitsuko;Aoki Shintaro;Kimura Takashi, Neurology. Genetics, 8(3):e680, 2022年05月
  • 【脳波の読み方-up to date】疾患別の脳波　大田原症候群, 加藤 光広, Clinical Neuroscience, 40(4):487 - 491, 2022年04月
  • A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia., Miyagawa Taku;Tanaka Susumu;Shimada Mihoko;Sakai Noriaki;Tanida Kotomi;Kotorii Nozomu;Kotorii Tatayu;Ariyoshi Yu;Hashizume Yuji;Ogi Kimihiro;Hiejima Hiroshi;Kanbayashi Takashi;Imanishi Aya;Ikegami Azusa;Kamei Yuichi;Hida Akiko;Wada Yamato;Miyamoto Masayuki;Takami Masanori;Kondo Hideaki;Tamura Yoshiyuki;Taniyama Yukari;Omata Naoto;Mizuno Tomoyuki;Moriya Shunpei;Furuya Hirokazu;Kato Mitsuhiro;Kato Kayoko;Ishigooka Jun;Tsuruta Kazuhito;Chiba Shigeru;Yamada Naoto;Okawa Masako;Hirata Koichi;Kuroda Kenji;Kume Kazuhiko;Uchimura Naohisa;Kitada Masaaki;Kodama Tohru;Inoue Yuichi;Nishino Seiji;Mishima Kazuo;Tokunaga Katsushi;Honda Makoto, NPJ genomic medicine, 7(1):29, 2022年04月
  • Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants., Hamanaka Kohei;Miyake Noriko;Mizuguchi Takeshi;Miyatake Satoko;Uchiyama Yuri;Tsuchida Naomi;Sekiguchi Futoshi;Mitsuhashi Satomi;Tsurusaki Yoshinori;Nakashima Mitsuko;Saitsu Hirotomo;Yamada Kohei;Sakamoto Masamune;Fukuda Hiromi;Ohori Sachiko;Saida Ken;Itai Toshiyuki;Azuma Yoshiteru;Koshimizu Eriko;Fujita Atsushi;Erturk Biray;Hiraki Yoko;Ch'ng Gaik-Siew;Kato Mitsuhiro;Okamoto Nobuhiko;Takata Atsushi;Matsumoto Naomichi, Genome medicine, 14(1):40, 2022年04月
  • Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy., Ambrin Fatima; Jan Hoeber; Jens Schuster; Eriko Koshimizu; Carolina Maya-Gonzalez; Boris Keren; Cyril Mignot; Talia Akram; Zafar Ali; Satoko Miyatake; Junpei Tanigawa; Takayoshi Koike; Mitsuhiro Kato; Yoshiko Murakami; Uzma Abdullah; Muhammad Akhtar Ali; Rein Fadoul; Loora Laan; Casimiro Castillejo-López; Maarika Liik; Zhe Jin; Bryndis Birnir; Naomichi Matsumoto; Shahid M Baig; Joakim Klar; Niklas Dahl, American journal of human genetics, 109(3):542 - 546, 2022年03月
  • Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy., Ambrin Fatima; Jan Hoeber; Jens Schuster; Eriko Koshimizu; Carolina Maya-Gonzalez; Boris Keren; Cyril Mignot; Talia Akram; Zafar Ali; Satoko Miyatake; Junpei Tanigawa; Takayoshi Koike; Mitsuhiro Kato; Yoshiko Murakami; Uzma Abdullah; Muhammad Akhtar Ali; Rein Fadoul; Loora Laan; Casimiro Castillejo-López; Maarika Liik; Zhe Jin; Bryndis Birnir; Naomichi Matsumoto; Shahid M Baig; Joakim Klar; Niklas Dahl, American journal of human genetics, 109(3):542 - 546, 2022年03月
  • Burden of seizures and comorbidities in patients with epilepsy: a survey based on the tertiary hospital-based Epilepsy Syndrome Registry in Japan., Inoue Yushi;Hamano Shin-Ichiro;Hayashi Masaharu;Sakuma Hiroshi;Hirose Shinichi;Ishii Atsushi;Honda Ryoko;Ikeda Akio;Imai Katsumi;Jin Kazutaka;Kada Akiko;Kakita Akiyoshi;Kato Mitsuhiro;Kawai Kensuke;Kawakami Tamihiro;Kobayashi Katsuhiro;Matsuishi Toyojiro;Matsuo Takeshi;Nabatame Shin;Okamoto Nobuhiko;Ito Susumu;Okumura Akihisa;Saito Akiko;Shiraishi Hideaki;Shirozu Hiroshi;Saito Takashi;Sugano Hidenori;Takahashi Yukitoshi;Yamamoto Hitoshi;Fukuyama Tetsuhiro;Kuki Ichiro, Epileptic disorders : international epilepsy journal with videotape, 24(1):82 - 94, 2022年02月, 原著, 査読あり
  • Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation., Hiroko Baber Matsushita; Takuya Hiraide; Katsumi Hayakawa; Sozo Okano; Mitsuko Nakashima; Hirotomo Saitsu; Mitsuhiro Kato, Brain & development, 44(2):161 - 165, 2022年02月
  • Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation., Hiroko Baber Matsushita; Takuya Hiraide; Katsumi Hayakawa; Sozo Okano; Mitsuko Nakashima; Hirotomo Saitsu; Mitsuhiro Kato, Brain & development, 44(2):161 - 165, 2022年02月
  • STXBP1脳症の一卵性双生児例にみる臨床表現型の多様性, 小林 光; 井上 裕文; 星出 まどか; 松重 武志; 市山 高志; 加藤 光広; 長谷川 俊司, 日本小児科学会雑誌, 126(2):304 - 304, 2022年02月
  • STXBP1脳症の一卵性双生児例にみる臨床表現型の多様性, 小林 光; 井上 裕文; 星出 まどか; 松重 武志; 市山 高志; 加藤 光広; 長谷川 俊司, 日本小児科学会雑誌, 126(2):304 - 304, 2022年02月
  • 筋緊張低下を伴うWest症候群を発症したPTEN遺伝子変異の女児例, 門田 茉莉; 占部 良介; 中井 まりえ; 星野 英紀; 三牧 正和; 加藤 光広, 脳と発達, 54(1):69 - 69, 2022年01月
  • 筋緊張低下を伴うWest症候群を発症したPTEN遺伝子変異の女児例, 門田 茉莉; 占部 良介; 中井 まりえ; 星野 英紀; 三牧 正和; 加藤 光広, 脳と発達, 54(1):69 - 69, 2022年01月
  • Efficacy of ethosuximide on atonic seizures with KCNB1 mutation., Hoshino Hiroki;Miya Fuyuki;Kato Mitsuhiro;Kanemura Hideaki, Pediatrics international : official journal of the Japan Pediatric Society, 64(1):e14871, 2022年
  • Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis., Guerrini Renzo;Mei Davide;Kerti-Szigeti Katalin;Pepe Sara;Koenig Mary Kay;Von Allmen Gretchen;Cho Megan T;McDonald Kimberly;Baker Janice;Bhambhani Vikas;Powis Zöe;Rodan Lance;Nabbout Rima;Barcia Giulia;Rosenfeld Jill A;Bacino Carlos A;Mignot Cyril;Power Lillian H;Harris Catharine J;Marjanovic Dragan;Møller Rikke S;Hammer Trine B; ;Keski Filppula Riikka;Vieira Päivi;Hildebrandt Clara;Sacharow Stephanie; ;Maragliano Luca;Benfenati Fabio;Lachlan Katherine;Benneche Andreas;Petit Florence;de Sainte Agathe Jean Madeleine;Hallinan Barbara;Si Yue;Wentzensen Ingrid M;Zou Fanggeng;Narayanan Vinodh;Matsumoto Naomichi;Boncristiano Alessandra;la Marca Giancarlo;Kato Mitsuhiro;Anderson Kristin;Barba Carmen;Sturiale Luisa;Garozzo Domenico;Bei Roberto; ;Masuelli Laura;Conti Valerio;Novarino Gaia;Fassio Anna, Brain : a journal of neurology, 145(8):2687 - 2703, 2022年
  • Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy., Kishimoto Kanako;Nabatame Shin;Kagitani-Shimono Kuriko;Kato Mitsuhiro;Tohyama Jun;Nakashima Mitsuko;Matsumoto Naomichi;Ozono Keiichi, Epileptic disorders : international epilepsy journal with videotape, 24(4):726 - 728, 2022年
  • A case of epilepsy of infancy with migrating focal seizures caused by mosaic <i>SCN2A</i> mutation, Ryosuke Urabe; Yuichi Abe; Rika Kosaki; Eriko Koshimizu; Satoko Miyatake; Naomichi Matsumoto; Mitsuhiro Kato; Masaya Kubota, Epilepsy & Seizure, 14(1):17 - 24, 2022年
  • ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice, Kazushi Aoto; Mitsuhiro Kato; Tenpei Akita; Mitsuko Nakashima; Hiroki Mutoh; Noriyuki Akasaka; Jun Tohyama; Yoshiko Nomura; Kyoko Hoshino; Yasuhiko Ago; Ryuta Tanaka; Orna Epstein; Revital Ben-Haim; Eli Heyman; Takehiro Miyazaki; Hazrat Belal; Shuji Takabayashi; Chihiro Ohba; Atsushi Takata; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Atsuo Fukuda; Naomichi Matsumoto; Hirotomo Saitsu, Nature Communications, 12(1), 2021年12月
  • ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice, Kazushi Aoto; Mitsuhiro Kato; Tenpei Akita; Mitsuko Nakashima; Hiroki Mutoh; Noriyuki Akasaka; Jun Tohyama; Yoshiko Nomura; Kyoko Hoshino; Yasuhiko Ago; Ryuta Tanaka; Orna Epstein; Revital Ben-Haim; Eli Heyman; Takehiro Miyazaki; Hazrat Belal; Shuji Takabayashi; Chihiro Ohba; Atsushi Takata; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Atsuo Fukuda; Naomichi Matsumoto; Hirotomo Saitsu, Nature Communications, 12(1), 2021年12月
  • STXBP1遺伝子変異を有する大田原症候群の双子例, 小林 光; 井上 裕文; 星出 まどか; 松重 武志; 市山 高志; 加藤 光広; 長谷川 俊史, 脳と発達, 53(6):469 - 469, 2021年11月
  • STXBP1遺伝子変異を有する大田原症候群の双子例, 小林 光; 井上 裕文; 星出 まどか; 松重 武志; 市山 高志; 加藤 光広; 長谷川 俊史, 脳と発達, 53(6):469 - 469, 2021年11月
  • STXBP1遺伝子変異を有する大田原症候群の双子例, 小林 光; 井上 裕文; 星出 まどか; 松重 武志; 市山 高志; 加藤 光広; 長谷川 俊史, 脳と発達, 53(6):469 - 469, 2021年11月
  • Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy, Ilaria Parenti; Daphné Lehalle; Caroline Nava; Erin Torti; Elsa Leitão; Richard Person; Takeshi Mizuguchi; Naomichi Matsumoto; Mitsuhiro Kato; Kazuyuki Nakamura; Stella A. de Man; Heidi Cope; Vandana Shashi; Jennifer Friedman; Pascal Joset; Katharina Steindl; Anita Rauch; Irena Muffels; Peter M. van Hasselt; Florence Petit; Thomas Smol; Gwenaël Le Guyader; Frédéric Bilan; Arthur Sorlin; Antonio Vitobello; Christophe Philippe; Ingrid M. B. H. van de Laar; Marjon A. van Slegtenhorst; Philippe M. Campeau; Ping Yee Billie Au; Mitsuko Nakashima; Hirotomo Saitsu; Tatsuya Yamamoto; Yumiko Nomura; Raymond J. Louie; Michael J. Lyons; Amy Dobson; Astrid S. Plomp; M. Mahdi Motazacker; Frank J. Kaiser; Andrew T. Timberlake; Sabine A. Fuchs; Christel Depienne; Cyril Mignot, Human Genetics, 140(7):1109 - 1120, 2021年07月
  • Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy, Ilaria Parenti; Daphné Lehalle; Caroline Nava; Erin Torti; Elsa Leitão; Richard Person; Takeshi Mizuguchi; Naomichi Matsumoto; Mitsuhiro Kato; Kazuyuki Nakamura; Stella A. de Man; Heidi Cope; Vandana Shashi; Jennifer Friedman; Pascal Joset; Katharina Steindl; Anita Rauch; Irena Muffels; Peter M. van Hasselt; Florence Petit; Thomas Smol; Gwenaël Le Guyader; Frédéric Bilan; Arthur Sorlin; Antonio Vitobello; Christophe Philippe; Ingrid M. B. H. van de Laar; Marjon A. van Slegtenhorst; Philippe M. Campeau; Ping Yee Billie Au; Mitsuko Nakashima; Hirotomo Saitsu; Tatsuya Yamamoto; Yumiko Nomura; Raymond J. Louie; Michael J. Lyons; Amy Dobson; Astrid S. Plomp; M. Mahdi Motazacker; Frank J. Kaiser; Andrew T. Timberlake; Sabine A. Fuchs; Christel Depienne; Cyril Mignot, Human Genetics, 140(7):1109 - 1120, 2021年07月
  • 脳波所見から遺伝学的検査を考慮したSTXBP1遺伝子変異を有するWest症候群の男児例, 糸山 綾; 佐野 史和; 溝呂木 園子; 加賀 佳美; 金村 英秋; 宮 冬樹; 加藤 光広; 犬飼 岳史; 相原 正男, てんかん研究, 39(2):402 - 402, 2021年07月
  • 脳波所見から遺伝学的検査を考慮したSTXBP1遺伝子変異を有するWest症候群の男児例, 糸山 綾; 佐野 史和; 溝呂木 園子; 加賀 佳美; 金村 英秋; 宮 冬樹; 加藤 光広; 犬飼 岳史; 相原 正男, てんかん研究, 39(2):402 - 402, 2021年07月
  • コピー数多型解析により欠失領域の同定に至ったDravet症候群の1例, 生田 陽二; 日隈 のどか; 瀬山 理惠; 内山 由理; 松本 直通; 加藤 光広, てんかん研究, 39(2):453 - 453, 2021年07月
  • コピー数多型解析により欠失領域の同定に至ったDravet症候群の1例, 生田 陽二; 日隈 のどか; 瀬山 理惠; 内山 由理; 松本 直通; 加藤 光広, てんかん研究, 39(2):453 - 453, 2021年07月
  • A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies, Sachiko Miyamoto; Mitsuhiro Kato; Kenji Sugiyama; Ryo Horiguchi; Mitsuko Nakashima; Kazushi Aoto; Hiroki Mutoh; Hirotomo Saitsu, Journal of Human Genetics, 66(12):1189 - 1192, 2021年06月
  • A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies, Sachiko Miyamoto; Mitsuhiro Kato; Kenji Sugiyama; Ryo Horiguchi; Mitsuko Nakashima; Kazushi Aoto; Hiroki Mutoh; Hirotomo Saitsu, Journal of Human Genetics, 66(12):1189 - 1192, 2021年06月
  • 精神運動発達遅滞と眼球運動失行あり、ADAMTS9遺伝子変異を認めた症例, 松下 浩子; 岡野 創造; 早川 克己; 平出 拓也; 中島 光子; 才津 浩智; 加藤 光広, 脳と発達, 53(Suppl.):S291 - S291, 2021年05月
  • 精神運動発達遅滞と眼球運動失行あり、ADAMTS9遺伝子変異を認めた症例, 松下 浩子; 岡野 創造; 早川 克己; 平出 拓也; 中島 光子; 才津 浩智; 加藤 光広, 脳と発達, 53(Suppl.):S291 - S291, 2021年05月
  • 精神運動発達遅滞と眼球運動失行あり、ADAMTS9遺伝子変異を認めた症例, 松下 浩子; 岡野 創造; 早川 克己; 平出 拓也; 中島 光子; 才津 浩智; 加藤 光広, 脳と発達, 53(Suppl.):S291 - S291, 2021年05月
  • De novo ATP1A3 variants cause polymicrogyria, Satoko Miyatake; Mitsuhiro Kato; Takuma Kumamoto; Tomonori Hirose; Eriko Koshimizu; Takaaki Matsui; Hideyuki Takeuchi; Hiroshi Doi; Keisuke Hamada; Mitsuko Nakashima; Kazunori Sasaki; Akio Yamashita; Atsushi Takata; Kohei Hamanaka; Mai Satoh; Takabumi Miyama; Yuri Sonoda; Momoko Sasazuki; Hiroyuki Torisu; Toshiro Hara; Yasunari Sakai; Yushi Noguchi; Mazumi Miura; Yoko Nishimura; Kazuyuki Nakamura; Hideyuki Asai; Nodoka Hinokuma; Fuyuki Miya; Tatsuhiko Tsunoda; Masami Togawa; Yukihiro Ikeda; Nobusuke Kimura; Kaoru Amemiya; Asako Horino; Masataka Fukuoka; Hiroko Ikeda; Goni Merhav; Nina Ekhilevitch; Masaki Miura; Takeshi Mizuguchi; Noriko Miyake; Atsushi Suzuki; Shouichi Ohga; Hirotomo Saitsu; Hidehisa Takahashi; Fumiaki Tanaka; Kazuhiro Ogata; Chiaki Ohtaka-Maruyama; Naomichi Matsumoto, Science Advances, 7(13), 2021年03月
  • De novo ATP1A3 variants cause polymicrogyria, Satoko Miyatake; Mitsuhiro Kato; Takuma Kumamoto; Tomonori Hirose; Eriko Koshimizu; Takaaki Matsui; Hideyuki Takeuchi; Hiroshi Doi; Keisuke Hamada; Mitsuko Nakashima; Kazunori Sasaki; Akio Yamashita; Atsushi Takata; Kohei Hamanaka; Mai Satoh; Takabumi Miyama; Yuri Sonoda; Momoko Sasazuki; Hiroyuki Torisu; Toshiro Hara; Yasunari Sakai; Yushi Noguchi; Mazumi Miura; Yoko Nishimura; Kazuyuki Nakamura; Hideyuki Asai; Nodoka Hinokuma; Fuyuki Miya; Tatsuhiko Tsunoda; Masami Togawa; Yukihiro Ikeda; Nobusuke Kimura; Kaoru Amemiya; Asako Horino; Masataka Fukuoka; Hiroko Ikeda; Goni Merhav; Nina Ekhilevitch; Masaki Miura; Takeshi Mizuguchi; Noriko Miyake; Atsushi Suzuki; Shouichi Ohga; Hirotomo Saitsu; Hidehisa Takahashi; Fumiaki Tanaka; Kazuhiro Ogata; Chiaki Ohtaka-Maruyama; Naomichi Matsumoto, Science Advances, 7(13), 2021年03月
  • De novo ATP1A3 variants cause polymicrogyria, Satoko Miyatake; Mitsuhiro Kato; Takuma Kumamoto; Tomonori Hirose; Eriko Koshimizu; Takaaki Matsui; Hideyuki Takeuchi; Hiroshi Doi; Keisuke Hamada; Mitsuko Nakashima; Kazunori Sasaki; Akio Yamashita; Atsushi Takata; Kohei Hamanaka; Mai Satoh; Takabumi Miyama; Yuri Sonoda; Momoko Sasazuki; Hiroyuki Torisu; Toshiro Hara; Yasunari Sakai; Yushi Noguchi; Mazumi Miura; Yoko Nishimura; Kazuyuki Nakamura; Hideyuki Asai; Nodoka Hinokuma; Fuyuki Miya; Tatsuhiko Tsunoda; Masami Togawa; Yukihiro Ikeda; Nobusuke Kimura; Kaoru Amemiya; Asako Horino; Masataka Fukuoka; Hiroko Ikeda; Goni Merhav; Nina Ekhilevitch; Masaki Miura; Takeshi Mizuguchi; Noriko Miyake; Atsushi Suzuki; Shouichi Ohga; Hirotomo Saitsu; Hidehisa Takahashi; Fumiaki Tanaka; Kazuhiro Ogata; Chiaki Ohtaka-Maruyama; Naomichi Matsumoto, Science Advances, 7(13), 2021年03月
  • Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis., Akiko Hiraiwa; Kou Matsui; Yumi Nakayama; Takao Komatsubara; Shinichi Magara; Yu Kobayashi; Moemi Hojo; Mitsuhiro Kato; Toshiyuki Yamamoto; Jun Tohyama, Brain & development, 43(3):448 - 453, 2021年03月
  • Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis., Akiko Hiraiwa; Kou Matsui; Yumi Nakayama; Takao Komatsubara; Shinichi Magara; Yu Kobayashi; Moemi Hojo; Mitsuhiro Kato; Toshiyuki Yamamoto; Jun Tohyama, Brain & development, 43(3):448 - 453, 2021年03月
  • Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis., Akiko Hiraiwa; Kou Matsui; Yumi Nakayama; Takao Komatsubara; Shinichi Magara; Yu Kobayashi; Moemi Hojo; Mitsuhiro Kato; Toshiyuki Yamamoto; Jun Tohyama, Brain & development, 43(3):448 - 453, 2021年03月
  • Clinical variations of epileptic syndrome associated with PACS2 variant., Tomoko Mizuno; Rie Miyata; Akira Hojo; Yumie Tamura; Mitsuko Nakashima; Takeshi Mizuguchi; Naomichi Matsumoto; Mitsuhiro Kato, Brain & development, 43(2):343 - 347, 2021年02月
  • Clinical variations of epileptic syndrome associated with PACS2 variant., Tomoko Mizuno; Rie Miyata; Akira Hojo; Yumie Tamura; Mitsuko Nakashima; Takeshi Mizuguchi; Naomichi Matsumoto; Mitsuhiro Kato, Brain & development, 43(2):343 - 347, 2021年02月
  • Clinical variations of epileptic syndrome associated with PACS2 variant., Tomoko Mizuno; Rie Miyata; Akira Hojo; Yumie Tamura; Mitsuko Nakashima; Takeshi Mizuguchi; Naomichi Matsumoto; Mitsuhiro Kato, Brain & development, 43(2):343 - 347, 2021年02月
  • Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses, Yuri Uchiyama; Daisuke Yamaguchi; Kazuhiro Iwama; Satoko Miyatake; Kohei Hamanaka; Naomi Tsuchida; Hiromi Aoi; Yoshiteru Azuma; Toshiyuki Itai; Ken Saida; Hiromi Fukuda; Futoshi Sekiguchi; Tomohiro Sakaguchi; Ming Lei; Sachiko Ohori; Masamune Sakamoto; Mitsuhiro Kato; Takayoshi Koike; Yukitoshi Takahashi; Koichi Tanda; Yuki Hyodo; Rachel S. Honjo; Debora Romeo Bertola; Chong Ae Kim; Masahide Goto; Tetsuya Okazaki; Hiroyuki Yamada; Yoshihiro Maegaki; Hitoshi Osaka; Lock‐Hock Ngu; Ch'ng G. Siew; Keng W. Teik; Manami Akasaka; Hiroshi Doi; Fumiaki Tanaka; Tomohide Goto; Long Guo; Shiro Ikegawa; Kazuhiro Haginoya; Muzhirah Haniffa; Nozomi Hiraishi; Yoko Hiraki; Satoru Ikemoto; Atsuro Daida; Shin‐ichiro Hamano; Masaki Miura; Akihiko Ishiyama; Osamu Kawano; Akane Kondo; Hiroshi Matsumoto; Nobuhiko Okamoto; Tohru Okanishi; Yukimi Oyoshi; Eri Takeshita; Toshifumi Suzuki; Yoshiyuki Ogawa; Hiroshi Handa; Yayoi Miyazono; Eriko Koshimizu; Atsushi Fujita; Atsushi Takata; Noriko Miyake; Takeshi Mizuguchi; Naomichi Matsumoto, Human Mutation, 42(1):50 - 65, 2021年01月
  • Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses, Yuri Uchiyama; Daisuke Yamaguchi; Kazuhiro Iwama; Satoko Miyatake; Kohei Hamanaka; Naomi Tsuchida; Hiromi Aoi; Yoshiteru Azuma; Toshiyuki Itai; Ken Saida; Hiromi Fukuda; Futoshi Sekiguchi; Tomohiro Sakaguchi; Ming Lei; Sachiko Ohori; Masamune Sakamoto; Mitsuhiro Kato; Takayoshi Koike; Yukitoshi Takahashi; Koichi Tanda; Yuki Hyodo; Rachel S. Honjo; Debora Romeo Bertola; Chong Ae Kim; Masahide Goto; Tetsuya Okazaki; Hiroyuki Yamada; Yoshihiro Maegaki; Hitoshi Osaka; Lock‐Hock Ngu; Ch'ng G. Siew; Keng W. Teik; Manami Akasaka; Hiroshi Doi; Fumiaki Tanaka; Tomohide Goto; Long Guo; Shiro Ikegawa; Kazuhiro Haginoya; Muzhirah Haniffa; Nozomi Hiraishi; Yoko Hiraki; Satoru Ikemoto; Atsuro Daida; Shin‐ichiro Hamano; Masaki Miura; Akihiko Ishiyama; Osamu Kawano; Akane Kondo; Hiroshi Matsumoto; Nobuhiko Okamoto; Tohru Okanishi; Yukimi Oyoshi; Eri Takeshita; Toshifumi Suzuki; Yoshiyuki Ogawa; Hiroshi Handa; Yayoi Miyazono; Eriko Koshimizu; Atsushi Fujita; Atsushi Takata; Noriko Miyake; Takeshi Mizuguchi; Naomichi Matsumoto, Human Mutation, 42(1):50 - 65, 2021年01月
  • Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses, Yuri Uchiyama; Daisuke Yamaguchi; Kazuhiro Iwama; Satoko Miyatake; Kohei Hamanaka; Naomi Tsuchida; Hiromi Aoi; Yoshiteru Azuma; Toshiyuki Itai; Ken Saida; Hiromi Fukuda; Futoshi Sekiguchi; Tomohiro Sakaguchi; Ming Lei; Sachiko Ohori; Masamune Sakamoto; Mitsuhiro Kato; Takayoshi Koike; Yukitoshi Takahashi; Koichi Tanda; Yuki Hyodo; Rachel S. Honjo; Debora Romeo Bertola; Chong Ae Kim; Masahide Goto; Tetsuya Okazaki; Hiroyuki Yamada; Yoshihiro Maegaki; Hitoshi Osaka; Lock‐Hock Ngu; Ch'ng G. Siew; Keng W. Teik; Manami Akasaka; Hiroshi Doi; Fumiaki Tanaka; Tomohide Goto; Long Guo; Shiro Ikegawa; Kazuhiro Haginoya; Muzhirah Haniffa; Nozomi Hiraishi; Yoko Hiraki; Satoru Ikemoto; Atsuro Daida; Shin‐ichiro Hamano; Masaki Miura; Akihiko Ishiyama; Osamu Kawano; Akane Kondo; Hiroshi Matsumoto; Nobuhiko Okamoto; Tohru Okanishi; Yukimi Oyoshi; Eri Takeshita; Toshifumi Suzuki; Yoshiyuki Ogawa; Hiroshi Handa; Yayoi Miyazono; Eriko Koshimizu; Atsushi Fujita; Atsushi Takata; Noriko Miyake; Takeshi Mizuguchi; Naomichi Matsumoto, Human Mutation, 42(1):50 - 65, 2021年01月
  • De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy, Toshiyuki Itai; Kohei Hamanaka; Kazunori Sasaki; Matias Wagner; Urania Kotzaeridou; Ines Brösse; Markus Ries; Yu Kobayashi; Jun Tohyama; Mitsuhiro Kato; Winnie P. Ong; Hui B. Chew; Kavitha Rethanavelu; Emmanuelle Ranza; Xavier Blanc; Yuri Uchiyama; Naomi Tsuchida; Atsushi Fujita; Yoshiteru Azuma; Eriko Koshimizu; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Hidehisa Takahashi; Etsuko Miyagi; Yoshinori Tsurusaki; Hiroshi Doi; Masataka Taguri; Stylianos E. Antonarakis; Mitsuko Nakashima; Hirotomo Saitsu; Satoko Miyatake; Naomichi Matsumoto, Human Mutation, 42(1):66 - 76, 2021年01月
  • De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy, Toshiyuki Itai; Kohei Hamanaka; Kazunori Sasaki; Matias Wagner; Urania Kotzaeridou; Ines Brösse; Markus Ries; Yu Kobayashi; Jun Tohyama; Mitsuhiro Kato; Winnie P. Ong; Hui B. Chew; Kavitha Rethanavelu; Emmanuelle Ranza; Xavier Blanc; Yuri Uchiyama; Naomi Tsuchida; Atsushi Fujita; Yoshiteru Azuma; Eriko Koshimizu; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Hidehisa Takahashi; Etsuko Miyagi; Yoshinori Tsurusaki; Hiroshi Doi; Masataka Taguri; Stylianos E. Antonarakis; Mitsuko Nakashima; Hirotomo Saitsu; Satoko Miyatake; Naomichi Matsumoto, Human Mutation, 42(1):66 - 76, 2021年01月
  • De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy, Toshiyuki Itai; Kohei Hamanaka; Kazunori Sasaki; Matias Wagner; Urania Kotzaeridou; Ines Brösse; Markus Ries; Yu Kobayashi; Jun Tohyama; Mitsuhiro Kato; Winnie P. Ong; Hui B. Chew; Kavitha Rethanavelu; Emmanuelle Ranza; Xavier Blanc; Yuri Uchiyama; Naomi Tsuchida; Atsushi Fujita; Yoshiteru Azuma; Eriko Koshimizu; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Hidehisa Takahashi; Etsuko Miyagi; Yoshinori Tsurusaki; Hiroshi Doi; Masataka Taguri; Stylianos E. Antonarakis; Mitsuko Nakashima; Hirotomo Saitsu; Satoko Miyatake; Naomichi Matsumoto, Human Mutation, 42(1):66 - 76, 2021年01月
  • Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review., Atsuko Arisaka; Mitsuko Nakashima; Satoko Kumada; Kenji Inoue; Hiroya Nishida; Hideaki Mashimo; Hirofumi Kashii; Mitsuhiro Kato; Koichi Maruyama; Akihisa Okumura; Hirotomo Saitsu; Naomichi Matsumoto; Mitsumasa Fukuda, Epilepsy & behavior reports, 15:100417 - 100417, 2021年
  • Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review., Atsuko Arisaka; Mitsuko Nakashima; Satoko Kumada; Kenji Inoue; Hiroya Nishida; Hideaki Mashimo; Hirofumi Kashii; Mitsuhiro Kato; Koichi Maruyama; Akihisa Okumura; Hirotomo Saitsu; Naomichi Matsumoto; Mitsumasa Fukuda, Epilepsy & behavior reports, 15:100417 - 100417, 2021年
  • Limb-clasping, cognitive deficit and increased vulnerability to kainic acid - induced seizures in neuronal GPI anchor deficiency mouse models, Lenin C. Kandasamy; Mina Tsukamoto; Vitaliy Banov; Sambuu Tsetsegee; Yutaro Nagasawa; Mitsuhiro Kato; Naomichi Matsumoto; Junji Takeda; Shigeyoshi Itohara; Sonoko Ogawa; Larry J. Young; Qi Zhang, 2020年10月
  • Limb-clasping, cognitive deficit and increased vulnerability to kainic acid - induced seizures in neuronal GPI anchor deficiency mouse models, Lenin C. Kandasamy; Mina Tsukamoto; Vitaliy Banov; Sambuu Tsetsegee; Yutaro Nagasawa; Mitsuhiro Kato; Naomichi Matsumoto; Junji Takeda; Shigeyoshi Itohara; Sonoko Ogawa; Larry J. Young; Qi Zhang, 2020年10月
  • Limb-clasping, cognitive deficit and increased vulnerability to kainic acid - induced seizures in neuronal GPI anchor deficiency mouse models, Lenin C. Kandasamy; Mina Tsukamoto; Vitaliy Banov; Sambuu Tsetsegee; Yutaro Nagasawa; Mitsuhiro Kato; Naomichi Matsumoto; Junji Takeda; Shigeyoshi Itohara; Sonoko Ogawa; Larry J. Young; Qi Zhang, 2020年10月
  • Clinical and genetic characteristics of patients with Doose syndrome., Nodoka Hinokuma; Mitsuko Nakashima; Hideyuki Asai; Kazuyuki Nakamura; Shinjiro Akaboshi; Masataka Fukuoka; Masami Togawa; Shingo Oana; Koyo Ohno; Mariko Kasai; Chikako Ogawa; Kazuna Yamamoto; Kiyohito Okumiya; Pin Fee Chong; Ryutaro Kira; Shumpei Uchino; Tetsuhiro Fukuyama; Tomoe Shinagawa; Yohane Miyata; Yuichi Abe; Akira Hojo; Kozue Kobayashi; Yoshihiro Maegaki; Nobutsune Ishikawa; Hiroko Ikeda; Masano Amamoto; Takeshi Mizuguchi; Kazuhiro Iwama; Toshiyuki Itai; Satoko Miyatake; Hirotomo Saitsu; Naomichi Matsumoto; Mitsuhiro Kato, Epilepsia open, 5(3):442 - 450, 2020年09月, 原著, 査読あり, DOI:10.1002/epi4.12417
  • 次世代シークエンサーによるcopy number variation(CNV)解析によって2q24領域の重複が明らかとなった1例, 谷藤 幸子; 高橋 幸利; 福岡 正隆; 小池 敬義; 大松 泰生; 美根 潤; 大谷 英之; 池田 浩子; 重松 秀夫; 今井 克美; 加藤 光広; 三橋 里美; 松本 直通, 脳と発達, 52(Suppl.):S224 - S224, 2020年08月
  • 次世代シークエンサーによるcopy number variation(CNV)解析によって2q24領域の重複が明らかとなった1例, 谷藤 幸子; 高橋 幸利; 福岡 正隆; 小池 敬義; 大松 泰生; 美根 潤; 大谷 英之; 池田 浩子; 重松 秀夫; 今井 克美; 加藤 光広; 三橋 里美; 松本 直通, 脳と発達, 52(Suppl.):S224 - S224, 2020年08月
  • 次世代シークエンサーによるcopy number variation(CNV)解析によって2q24領域の重複が明らかとなった1例, 谷藤 幸子; 高橋 幸利; 福岡 正隆; 小池 敬義; 大松 泰生; 美根 潤; 大谷 英之; 池田 浩子; 重松 秀夫; 今井 克美; 加藤 光広; 三橋 里美; 松本 直通, 脳と発達, 52(Suppl.):S224 - S224, 2020年08月
  • Aminoacyl-tRNA synthetases異常症の5家系, 岡本 伸彦; 宮 冬樹; 角田 達彦; 金村 米博; 齋藤 伸治; 加藤 光広; 要 匡; 柳 久美子; 小崎 健次郎, 脳と発達, 52(Suppl.):S223 - S223, 2020年08月
  • Aminoacyl-tRNA synthetases異常症の5家系, 岡本 伸彦; 宮 冬樹; 角田 達彦; 金村 米博; 齋藤 伸治; 加藤 光広; 要 匡; 柳 久美子; 小崎 健次郎, 脳と発達, 52(Suppl.):S223 - S223, 2020年08月
  • Aminoacyl-tRNA synthetases異常症の5家系, 岡本 伸彦; 宮 冬樹; 角田 達彦; 金村 米博; 齋藤 伸治; 加藤 光広; 要 匡; 柳 久美子; 小崎 健次郎, 脳と発達, 52(Suppl.):S223 - S223, 2020年08月
  • CASK遺伝子変異による大田原症候群の男児例, 一ノ瀬 文男; 樋口 直弥; 前田 寿幸; 浅井 秀幸; 日隈 のどか; 加藤 光広; 松尾 宗明, 脳と発達, 52(Suppl.):S305 - S305, 2020年08月
  • CASK遺伝子変異による大田原症候群の男児例, 一ノ瀬 文男; 樋口 直弥; 前田 寿幸; 浅井 秀幸; 日隈 のどか; 加藤 光広; 松尾 宗明, 脳と発達, 52(Suppl.):S305 - S305, 2020年08月
  • CASK遺伝子変異による大田原症候群の男児例, 一ノ瀬 文男; 樋口 直弥; 前田 寿幸; 浅井 秀幸; 日隈 のどか; 加藤 光広; 松尾 宗明, 脳と発達, 52(Suppl.):S305 - S305, 2020年08月
  • Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination., Tadashi Shiohama; Mitsuko Nakashima; Hajime Ikehara; Mitsuhiro Kato; Hirotomo Saitsu, Congenital anomalies, 60(3):94 - 96, 2020年05月
  • Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination., Tadashi Shiohama; Mitsuko Nakashima; Hajime Ikehara; Mitsuhiro Kato; Hirotomo Saitsu, Congenital anomalies, 60(3):94 - 96, 2020年05月
  • Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination., Tadashi Shiohama; Mitsuko Nakashima; Hajime Ikehara; Mitsuhiro Kato; Hirotomo Saitsu, Congenital anomalies, 60(3):94 - 96, 2020年05月
  • De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms., Mitsuko Nakashima; Mitsuhiro Kato; Masaru Matsukura; Ryutaro Kira; Lock-Hock Ngu; Klaske D Lichtenbelt; Koen L I van Gassen; Satomi Mitsuhashi; Hirotomo Saitsu; Naomichi Matsumoto, Journal of human genetics, 65(9):727 - 734, 2020年04月
  • De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms., Mitsuko Nakashima; Mitsuhiro Kato; Masaru Matsukura; Ryutaro Kira; Lock-Hock Ngu; Klaske D Lichtenbelt; Koen L I van Gassen; Satomi Mitsuhashi; Hirotomo Saitsu; Naomichi Matsumoto, Journal of human genetics, 65(9):727 - 734, 2020年04月
  • De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms., Mitsuko Nakashima; Mitsuhiro Kato; Masaru Matsukura; Ryutaro Kira; Lock-Hock Ngu; Klaske D Lichtenbelt; Koen L I van Gassen; Satomi Mitsuhashi; Hirotomo Saitsu; Naomichi Matsumoto, Journal of human genetics, 65(9):727 - 734, 2020年04月
  • Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities., MIYAKE N;TAKAHASHI H;NAKAMURA K;ISIDOR B;HIRAKI Y;KOSHIMIZU E;SHIINA M;SASAKI K;SUZUKI H;ABE R;KIMURA Y;AKIYAMA T;TOMIZAWA SI;HIROSE T;HAMANAKA K;MIYATAKE S;MITSUHASHI S;MIZUGUCHI T;TAKATA A;OBO K;KATO Mitsuhiro;OGATA K;MATSUMOTO N, Am J Hum Genet, 106(1):13 - 25, 2020年01月, 原著, 査読あり, DOI:10.1016/j.ajhg.2019.11.011
  • Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms., Wakaba Endo; Satoru Ikemoto; Noriko Togashi; Takuya Miyabayashi; Erika Nakajima; Shin-Ichiro Hamano; Moriei Shibuya; Ryo Sato; Yusuke Takezawa; Yukimune Okubo; Takehiko Inui; Mitsuhiro Kato; Toru Sengoku; Kazuhiro Ogata; Kohei Hamanaka; Takeshi Mizuguchi; Satoko Miyatake; Mitsuko Nakashima; Naomichi Matsumoto; Kazuhiro Haginoya, Brain & development, 2019年11月
  • Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms., Wakaba Endo; Satoru Ikemoto; Noriko Togashi; Takuya Miyabayashi; Erika Nakajima; Shin-Ichiro Hamano; Moriei Shibuya; Ryo Sato; Yusuke Takezawa; Yukimune Okubo; Takehiko Inui; Mitsuhiro Kato; Toru Sengoku; Kazuhiro Ogata; Kohei Hamanaka; Takeshi Mizuguchi; Satoko Miyatake; Mitsuko Nakashima; Naomichi Matsumoto; Kazuhiro Haginoya, Brain & development, 2019年11月
  • Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms., Wakaba Endo; Satoru Ikemoto; Noriko Togashi; Takuya Miyabayashi; Erika Nakajima; Shin-Ichiro Hamano; Moriei Shibuya; Ryo Sato; Yusuke Takezawa; Yukimune Okubo; Takehiko Inui; Mitsuhiro Kato; Toru Sengoku; Kazuhiro Ogata; Kohei Hamanaka; Takeshi Mizuguchi; Satoko Miyatake; Mitsuko Nakashima; Naomichi Matsumoto; Kazuhiro Haginoya, Brain & development, 2019年11月
  • Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation., ISHIKAWA N;TATEISHI Y;TANI H;KOBAYASHI Y;ITAI T;MIYATAKE S;KATO Mitsuhiro;MATSUMOTO N;KOBAYASHI M, Seizure, 71:20 - 23, 2019年10月, 原著, 査読あり
  • Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report., Kouhei Den; Yosuke Kudo; Mitsuhiro Kato; Kosuke Watanabe; Hiroshi Doi; Fumiaki Tanaka; Hirokazu Oguni; Satoko Miyatake; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Satomi Mitsuhashi; Naomichi Matsumoto, BMC neurology, 19(1):253 - 253, 2019年10月
  • Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report., Kouhei Den; Yosuke Kudo; Mitsuhiro Kato; Kosuke Watanabe; Hiroshi Doi; Fumiaki Tanaka; Hirokazu Oguni; Satoko Miyatake; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Satomi Mitsuhashi; Naomichi Matsumoto, BMC neurology, 19(1):253 - 253, 2019年10月
  • Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report., Kouhei Den; Yosuke Kudo; Mitsuhiro Kato; Kosuke Watanabe; Hiroshi Doi; Fumiaki Tanaka; Hirokazu Oguni; Satoko Miyatake; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Satomi Mitsuhashi; Naomichi Matsumoto, BMC neurology, 19(1):253 - 253, 2019年10月
  • A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy., OGUNI H;NISHIKAWA A;SATO Y;OTANI Y;ITO S;NAGATA S;KATO Mitsuhiro;HAMANAKA K;MIYATAKE S;MATSUMOTO N, Epilepsy Res, 155:106149, 2019年09月, 査読あり
  • A novel de novo frameshift variant in SETD1B causes epilepsy., DEN K;KATO Mitsuhiro;YAMAGUCHI T;MIYATAKE S;TAKATA A;MIZOGUCHI T;MIYAKE N;MITSUHASHI S;MATSUMOTO N, J Hum Genet, 64(8):821 - 827, 2019年08月, 総説, 査読あり
  • 体重増加不良を契機とし、脳形成異常からTUBB2B遺伝子異常が判明した1例, 落合 悟; 星野 英紀; 元山 華穂子; 嶋田 怜士; 中井 まりえ; 大場 洋; 加藤 光広; 中島 光子; 才津 浩智; 三牧 正和, 日本小児科学会雑誌, 123(8):1319 - 1319, 2019年08月
  • 体重増加不良を契機とし、脳形成異常からTUBB2B遺伝子異常が判明した1例, 落合 悟; 星野 英紀; 元山 華穂子; 嶋田 怜士; 中井 まりえ; 大場 洋; 加藤 光広; 中島 光子; 才津 浩智; 三牧 正和, 日本小児科学会雑誌, 123(8):1319 - 1319, 2019年08月
  • 体重増加不良を契機とし、脳形成異常からTUBB2B遺伝子異常が判明した1例, 落合 悟; 星野 英紀; 元山 華穂子; 嶋田 怜士; 中井 まりえ; 大場 洋; 加藤 光広; 中島 光子; 才津 浩智; 三牧 正和, 日本小児科学会雑誌, 123(8):1319 - 1319, 2019年08月
  • Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma., Fujita A;Higashijima T;Shirozu H;Masuda H;Sonoda M;Tohyama J;KATO Mitsuhiro;Nakashima M;Tsurusaki Y;Mitsuhashi S;Mizuguchi T;Takata A;Miyatake S;Miyake N;Fukuda M;Kameyama S;Saitsu H;Matsumoto N, Neurology, 93(3):e237 - e251, 2019年07月, 原著, 査読あり
  • Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination., SHIOHAMA T;NAKASHIMA M;IKEHARA H;KATO Mitsuhiro;SAITSU H, Congenit Anom (Kyoto), :e, 2019年07月, 査読あり
  • Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate., Kato K; Miya F; Hori I; Ieda D; Ohashi K; Negishi Y; Hattori A; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Saitoh S, Journal of human genetics, 64(7):701 - 702, 2019年07月
  • Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate., Kato K; Miya F; Hori I; Ieda D; Ohashi K; Negishi Y; Hattori A; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Saitoh S, Journal of human genetics, 64(7):701 - 702, 2019年07月
  • Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate., Kato K; Miya F; Hori I; Ieda D; Ohashi K; Negishi Y; Hattori A; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Saitoh S, Journal of human genetics, 64(7):701 - 702, 2019年07月
  • The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome., VAN DER SLUIJS PJ[et al];KATO Mitsuhiro, Genet Med, 21(6):1295 - 1307, 2019年06月, 原著, 査読あり
  • Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy., TAKATA Atsushi[et al];KATO Mitsuhiro, Nat Commun, 10(1):2506, 2019年06月, 原著, 査読あり
  • MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome., Kohji Kato; Fuyuki Miya; Nanako Hamada; Yutaka Negishi; Yoko Narumi-Kishimoto; Hiroshi Ozawa; Hidenori Ito; Ikumi Hori; Ayako Hattori; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Yonehiro Kanemura; Kenjiro Kosaki; Yoshiyuki Takahashi; Koh-Ichi Nagata; Shinji Saitoh, Journal of medical genetics, 56(6):388 - 395, 2019年06月
  • MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome., Kohji Kato; Fuyuki Miya; Nanako Hamada; Yutaka Negishi; Yoko Narumi-Kishimoto; Hiroshi Ozawa; Hidenori Ito; Ikumi Hori; Ayako Hattori; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Yonehiro Kanemura; Kenjiro Kosaki; Yoshiyuki Takahashi; Koh-Ichi Nagata; Shinji Saitoh, Journal of medical genetics, 56(6):388 - 395, 2019年06月
  • MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome., Kohji Kato; Fuyuki Miya; Nanako Hamada; Yutaka Negishi; Yoko Narumi-Kishimoto; Hiroshi Ozawa; Hidenori Ito; Ikumi Hori; Ayako Hattori; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Yonehiro Kanemura; Kenjiro Kosaki; Yoshiyuki Takahashi; Koh-Ichi Nagata; Shinji Saitoh, Journal of medical genetics, 56(6):388 - 395, 2019年06月
  • 運動時に悪化する失調、頭痛、てんかん発作、脱力症状を伴う液胞型ATPase遺伝子(ATP6V1A遺伝子)異常の1例, 柳原 恵子; 岡本 伸彦; 平野 翔堂; 中島 健; 大星 大観; 木水 友一; 池田 妙; 最上 友紀子; 鈴木 保宏; 加藤 光広; 才津 浩智; 松本 直通, 脳と発達, 51(Suppl.):S266 - S266, 2019年05月
  • 運動時に悪化する失調、頭痛、てんかん発作、脱力症状を伴う液胞型ATPase遺伝子(ATP6V1A遺伝子)異常の1例, 柳原 恵子; 岡本 伸彦; 平野 翔堂; 中島 健; 大星 大観; 木水 友一; 池田 妙; 最上 友紀子; 鈴木 保宏; 加藤 光広; 才津 浩智; 松本 直通, 脳と発達, 51(Suppl.):S266 - S266, 2019年05月
  • 運動時に悪化する失調、頭痛、てんかん発作、脱力症状を伴う液胞型ATPase遺伝子(ATP6V1A遺伝子)異常の1例, 柳原 恵子; 岡本 伸彦; 平野 翔堂; 中島 健; 大星 大観; 木水 友一; 池田 妙; 最上 友紀子; 鈴木 保宏; 加藤 光広; 才津 浩智; 松本 直通, 脳と発達, 51(Suppl.):S266 - S266, 2019年05月
  • De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies., Kohei Hamanaka; Yuji Sugawara; Takeyoshi Shimoji; Tone Irene Nordtveit; Mitsuhiro Kato; Mitsuko Nakashima; Hirotomo Saitsu; Toshimitsu Suzuki; Kazuhiro Yamakawa; Ingvild Aukrust; Gunnar Houge; Satomi Mitsuhashi; Atsushi Takata; Kazuhiro Iwama; Ahmed Alkanaq; Atsushi Fujita; Eri Imagawa; Takeshi Mizuguchi; Noriko Miyake; Satoko Miyatake; Naomichi Matsumoto, European journal of human genetics : EJHG, 27(3):378 - 383, 2019年03月
  • De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies., Kohei Hamanaka; Yuji Sugawara; Takeyoshi Shimoji; Tone Irene Nordtveit; Mitsuhiro Kato; Mitsuko Nakashima; Hirotomo Saitsu; Toshimitsu Suzuki; Kazuhiro Yamakawa; Ingvild Aukrust; Gunnar Houge; Satomi Mitsuhashi; Atsushi Takata; Kazuhiro Iwama; Ahmed Alkanaq; Atsushi Fujita; Eri Imagawa; Takeshi Mizuguchi; Noriko Miyake; Satoko Miyatake; Naomichi Matsumoto, European journal of human genetics : EJHG, 27(3):378 - 383, 2019年03月
  • De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies., Kohei Hamanaka; Yuji Sugawara; Takeyoshi Shimoji; Tone Irene Nordtveit; Mitsuhiro Kato; Mitsuko Nakashima; Hirotomo Saitsu; Toshimitsu Suzuki; Kazuhiro Yamakawa; Ingvild Aukrust; Gunnar Houge; Satomi Mitsuhashi; Atsushi Takata; Kazuhiro Iwama; Ahmed Alkanaq; Atsushi Fujita; Eri Imagawa; Takeshi Mizuguchi; Noriko Miyake; Satoko Miyatake; Naomichi Matsumoto, European journal of human genetics : EJHG, 27(3):378 - 383, 2019年03月
  • Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency., KOJIMA K;NAKAJIMA T;TAGA N;MIYAUCHI A;KATO Mitsuhiro;MATSUMOTO A;IKEDA T;NAKAMURA K;KUBOTA T;MIZUKAMI H;ONO S;ONUKI Y;SATO T;OSAKA H;MURAMATSU SI;YAMAGATA T, Brain, 142(2):322 - 333, 2019年02月, 原著, 査読あり
  • Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)., YOSHITOMI S;TAKAHASHI Y;IMAI K;KOSHIMIZU E;MIYATAKE S;NAKASHIMA M;SAITSU H;MATSUMOTO N;KATO Mitsuhiro;FUJITA T;ISHII A;HIROSE S;INOUE Y, Seizure, 65:118 - 123, 2019年02月, 査読あり
  • Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)., Shinsaku Yoshitomi; Yukitoshi Takahashi; Katsumi Imai; Eriko Koshimizu; Satoko Miyatake; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto; Mitsuhiro Kato; Takako Fujita; Atsushi Ishii; Shinichi Hirose; Yushi Inoue, Seizure, 65:118 - 123, 2019年02月
  • Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)., Shinsaku Yoshitomi; Yukitoshi Takahashi; Katsumi Imai; Eriko Koshimizu; Satoko Miyatake; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto; Mitsuhiro Kato; Takako Fujita; Atsushi Ishii; Shinichi Hirose; Yushi Inoue, Seizure, 65:118 - 123, 2019年02月
  • Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)., Shinsaku Yoshitomi; Yukitoshi Takahashi; Katsumi Imai; Eriko Koshimizu; Satoko Miyatake; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto; Mitsuhiro Kato; Takako Fujita; Atsushi Ishii; Shinichi Hirose; Yushi Inoue, Seizure, 65:118 - 123, 2019年02月
  • Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome., van der Sluijs PJ; Jansen S; Vergano SA; Adachi-Fukuda M; Alanay Y; AlKindy A; Baban A; Bayat A; Beck-Wödl S; Berry K; Bijlsma EK; Bok LA; Brouwer AFJ; van der Burgt I; Campeau PM; Canham N; Chrzanowska K; Chu YWY; Chung BHY; Dahan K; De Rademaeker M; Destree A; Dudding-Byth T; Earl R; Elcioglu N; Elias ER; Fagerberg C; Gardham A; Gener B; Gerkes EH; Grasshoff U; van Haeringen A; Heitink KR; Herkert JC; den Hollander NS; Horn D; Hunt D; Kant SG; Kato M; Kayserili H; Kersseboom R; Kilic E; Krajewska-Walasek M; Lammers K; Laulund LW; Lederer D; Lees M; López-González V; Maas S; Mancini GMS; Marcelis C; Martinez F; Maystadt I; McGuire M; McKee S; Mehta S; Metcalfe K; Milunsky J; Mizuno S; Moeschler JB; Netzer C; Ockeloen CW; Oehl-Jaschkowitz B; Okamoto N; Olminkhof SNM; Orellana C; Pasquier L; Pottinger C; Riehmer V; Robertson SP; Roifman M; Rooryck C; Ropers FG; Rosello M; Ruivenkamp CAL; Sagiroglu MS; Sallevelt SCEH; Calvo AS; Simsek-Kiper PO; Soares G; Solaeche L; Sonmez FM; Splitt M; Steenbeek D; Stegmann APA; Stumpel CTRM; Tanabe S; Uctepe E; Utine GE; Veenstra-Knol HE; Venkateswaran S; Vilain C; Vincent-Delorme C; Vulto-van Silfhout AT; Wheeler P; Wilson GN; Wilson LC; Wollnik B; Kosho T; Wieczorek D; Eichler E; Pfundt R; de Vries BBA; Clayton-Smith J; Santen GWE, Genetics in medicine : official journal of the American College of Medical Genetics, 21(9):2160 - 2161, 2019年01月
  • Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome., van der Sluijs PJ; Jansen S; Vergano SA; Adachi-Fukuda M; Alanay Y; AlKindy A; Baban A; Bayat A; Beck-Wödl S; Berry K; Bijlsma EK; Bok LA; Brouwer AFJ; van der Burgt I; Campeau PM; Canham N; Chrzanowska K; Chu YWY; Chung BHY; Dahan K; De Rademaeker M; Destree A; Dudding-Byth T; Earl R; Elcioglu N; Elias ER; Fagerberg C; Gardham A; Gener B; Gerkes EH; Grasshoff U; van Haeringen A; Heitink KR; Herkert JC; den Hollander NS; Horn D; Hunt D; Kant SG; Kato M; Kayserili H; Kersseboom R; Kilic E; Krajewska-Walasek M; Lammers K; Laulund LW; Lederer D; Lees M; López-González V; Maas S; Mancini GMS; Marcelis C; Martinez F; Maystadt I; McGuire M; McKee S; Mehta S; Metcalfe K; Milunsky J; Mizuno S; Moeschler JB; Netzer C; Ockeloen CW; Oehl-Jaschkowitz B; Okamoto N; Olminkhof SNM; Orellana C; Pasquier L; Pottinger C; Riehmer V; Robertson SP; Roifman M; Rooryck C; Ropers FG; Rosello M; Ruivenkamp CAL; Sagiroglu MS; Sallevelt SCEH; Calvo AS; Simsek-Kiper PO; Soares G; Solaeche L; Sonmez FM; Splitt M; Steenbeek D; Stegmann APA; Stumpel CTRM; Tanabe S; Uctepe E; Utine GE; Veenstra-Knol HE; Venkateswaran S; Vilain C; Vincent-Delorme C; Vulto-van Silfhout AT; Wheeler P; Wilson GN; Wilson LC; Wollnik B; Kosho T; Wieczorek D; Eichler E; Pfundt R; de Vries BBA; Clayton-Smith J; Santen GWE, Genetics in medicine : official journal of the American College of Medical Genetics, 21(9):2160 - 2161, 2019年01月
  • Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome., van der Sluijs PJ; Jansen S; Vergano SA; Adachi-Fukuda M; Alanay Y; AlKindy A; Baban A; Bayat A; Beck-Wödl S; Berry K; Bijlsma EK; Bok LA; Brouwer AFJ; van der Burgt I; Campeau PM; Canham N; Chrzanowska K; Chu YWY; Chung BHY; Dahan K; De Rademaeker M; Destree A; Dudding-Byth T; Earl R; Elcioglu N; Elias ER; Fagerberg C; Gardham A; Gener B; Gerkes EH; Grasshoff U; van Haeringen A; Heitink KR; Herkert JC; den Hollander NS; Horn D; Hunt D; Kant SG; Kato M; Kayserili H; Kersseboom R; Kilic E; Krajewska-Walasek M; Lammers K; Laulund LW; Lederer D; Lees M; López-González V; Maas S; Mancini GMS; Marcelis C; Martinez F; Maystadt I; McGuire M; McKee S; Mehta S; Metcalfe K; Milunsky J; Mizuno S; Moeschler JB; Netzer C; Ockeloen CW; Oehl-Jaschkowitz B; Okamoto N; Olminkhof SNM; Orellana C; Pasquier L; Pottinger C; Riehmer V; Robertson SP; Roifman M; Rooryck C; Ropers FG; Rosello M; Ruivenkamp CAL; Sagiroglu MS; Sallevelt SCEH; Calvo AS; Simsek-Kiper PO; Soares G; Solaeche L; Sonmez FM; Splitt M; Steenbeek D; Stegmann APA; Stumpel CTRM; Tanabe S; Uctepe E; Utine GE; Veenstra-Knol HE; Venkateswaran S; Vilain C; Vincent-Delorme C; Vulto-van Silfhout AT; Wheeler P; Wilson GN; Wilson LC; Wollnik B; Kosho T; Wieczorek D; Eichler E; Pfundt R; de Vries BBA; Clayton-Smith J; Santen GWE, Genetics in medicine : official journal of the American College of Medical Genetics, 21(9):2160 - 2161, 2019年01月
  • 発作性小脳失調と知的障害を伴い、CAMK2Bにde novo変異を有する難治性てんかんの男児例, 眞柄 慎一; 小松原 孝夫; 小林 悠; 遠山 潤; 加藤 光広; 秋田 天平; 才津 浩智; 松本 直通, てんかん研究, 36(3):701 - 701, 2019年01月
  • 発作性小脳失調と知的障害を伴い、CAMK2Bにde novo変異を有する難治性てんかんの男児例, 眞柄 慎一; 小松原 孝夫; 小林 悠; 遠山 潤; 加藤 光広; 秋田 天平; 才津 浩智; 松本 直通, てんかん研究, 36(3):701 - 701, 2019年01月
  • 発作性小脳失調と知的障害を伴い、CAMK2Bにde novo変異を有する難治性てんかんの男児例, 眞柄 慎一; 小松原 孝夫; 小林 悠; 遠山 潤; 加藤 光広; 秋田 天平; 才津 浩智; 松本 直通, てんかん研究, 36(3):701 - 701, 2019年01月
  • PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy., Shiraku H; Nakashima M; Takeshita S; Khoo CS; Haniffa M; Ch'ng GS; Takada K; Nakajima K; Ohta M; Okanishi T; Kanai S; Fujimoto A; Saitsu H; Matsumoto N; Kato M, Epilepsia open, 3(4):495 - 502, 2018年12月
  • PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy., Shiraku H; Nakashima M; Takeshita S; Khoo CS; Haniffa M; Ch'ng GS; Takada K; Nakajima K; Ohta M; Okanishi T; Kanai S; Fujimoto A; Saitsu H; Matsumoto N; Kato M, Epilepsia open, 3(4):495 - 502, 2018年12月
  • PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy., Shiraku H; Nakashima M; Takeshita S; Khoo CS; Haniffa M; Ch'ng GS; Takada K; Nakajima K; Ohta M; Okanishi T; Kanai S; Fujimoto A; Saitsu H; Matsumoto N; Kato M, Epilepsia open, 3(4):495 - 502, 2018年12月
  • GRIN2D variants in three cases of developmental and epileptic encephalopathy., Naomi Tsuchida; Keisuke Hamada; Masaaki Shiina; Mitsuhiro Kato; Yu Kobayashi; Jun Tohyama; Kazue Kimura; Kyoko Hoshino; Vigneswari Ganesan; Keng W Teik; Mitsuko Nakashima; Satomi Mitsuhashi; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Hirotomo Saitsu; Kazuhiro Ogata; Satoko Miyatake; Naomichi Matsumoto, Clinical genetics, 94(6):538 - 547, 2018年12月
  • GRIN2D variants in three cases of developmental and epileptic encephalopathy., Naomi Tsuchida; Keisuke Hamada; Masaaki Shiina; Mitsuhiro Kato; Yu Kobayashi; Jun Tohyama; Kazue Kimura; Kyoko Hoshino; Vigneswari Ganesan; Keng W Teik; Mitsuko Nakashima; Satomi Mitsuhashi; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Hirotomo Saitsu; Kazuhiro Ogata; Satoko Miyatake; Naomichi Matsumoto, Clinical genetics, 94(6):538 - 547, 2018年12月
  • GRIN2D variants in three cases of developmental and epileptic encephalopathy., Naomi Tsuchida; Keisuke Hamada; Masaaki Shiina; Mitsuhiro Kato; Yu Kobayashi; Jun Tohyama; Kazue Kimura; Kyoko Hoshino; Vigneswari Ganesan; Keng W Teik; Mitsuko Nakashima; Satomi Mitsuhashi; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Hirotomo Saitsu; Kazuhiro Ogata; Satoko Miyatake; Naomichi Matsumoto, Clinical genetics, 94(6):538 - 547, 2018年12月
  • A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia., Miyagawa T; Khor SS; Toyoda H; Kanbayashi T; Imanishi A; Sagawa Y; Kotorii N; Kotorii T; Ariyoshi Y; Hashizume Y; Ogi K; Hiejima H; Kamei Y; Hida A; Miyamoto M; Ikegami A; Wada Y; Takami M; Higashiyama Y; Miyake R; Kondo H; Fujimura Y; Tamura Y; Taniyama Y; Omata N; Tanaka Y; Moriya S; Furuya H; Kato M; Kawamura Y; Otowa T; Miyashita A; Kojima H; Saji H; Shimada M; Yamasaki M; Kobayashi T; Misawa R; Shigematsu Y; Kuwano R; Sasaki T; Ishigooka J; Wada Y; Tsuruta K; Chiba S; Tanaka F; Yamada N; Okawa M; Kuroda K; Kume K; Hirata K; Uchimura N; Shimizu T; Inoue Y; Honda Y; Mishima K; Honda M; Tokunaga K, Journal of human genetics, 63(12):1259 - 1267, 2018年12月
  • A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia., Miyagawa T; Khor SS; Toyoda H; Kanbayashi T; Imanishi A; Sagawa Y; Kotorii N; Kotorii T; Ariyoshi Y; Hashizume Y; Ogi K; Hiejima H; Kamei Y; Hida A; Miyamoto M; Ikegami A; Wada Y; Takami M; Higashiyama Y; Miyake R; Kondo H; Fujimura Y; Tamura Y; Taniyama Y; Omata N; Tanaka Y; Moriya S; Furuya H; Kato M; Kawamura Y; Otowa T; Miyashita A; Kojima H; Saji H; Shimada M; Yamasaki M; Kobayashi T; Misawa R; Shigematsu Y; Kuwano R; Sasaki T; Ishigooka J; Wada Y; Tsuruta K; Chiba S; Tanaka F; Yamada N; Okawa M; Kuroda K; Kume K; Hirata K; Uchimura N; Shimizu T; Inoue Y; Honda Y; Mishima K; Honda M; Tokunaga K, Journal of human genetics, 63(12):1259 - 1267, 2018年12月
  • A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia., Miyagawa T; Khor SS; Toyoda H; Kanbayashi T; Imanishi A; Sagawa Y; Kotorii N; Kotorii T; Ariyoshi Y; Hashizume Y; Ogi K; Hiejima H; Kamei Y; Hida A; Miyamoto M; Ikegami A; Wada Y; Takami M; Higashiyama Y; Miyake R; Kondo H; Fujimura Y; Tamura Y; Taniyama Y; Omata N; Tanaka Y; Moriya S; Furuya H; Kato M; Kawamura Y; Otowa T; Miyashita A; Kojima H; Saji H; Shimada M; Yamasaki M; Kobayashi T; Misawa R; Shigematsu Y; Kuwano R; Sasaki T; Ishigooka J; Wada Y; Tsuruta K; Chiba S; Tanaka F; Yamada N; Okawa M; Kuroda K; Kume K; Hirata K; Uchimura N; Shimizu T; Inoue Y; Honda Y; Mishima K; Honda M; Tokunaga K, Journal of human genetics, 63(12):1259 - 1267, 2018年12月
  • The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome., van der Sluijs PJ; Jansen S; Vergano SA; Adachi-Fukuda M; Alanay Y; AlKindy A; Baban A; Bayat A; Beck-Wödl S; Berry K; Bijlsma EK; Bok LA; Brouwer AFJ; van der Burgt I; Campeau PM; Canham N; Chrzanowska K; Chu YWY; Chung BHY; Dahan K; De Rademaeker M; Destree A; Dudding-Byth T; Earl R; Elcioglu N; Elias ER; Fagerberg C; Gardham A; Gener B; Gerkes EH; Grasshoff U; van Haeringen A; Heitink KR; Herkert JC; den Hollander NS; Horn D; Hunt D; Kant SG; Kato M; Kayserili H; Kersseboom R; Kilic E; Krajewska-Walasek M; Lammers K; Laulund LW; Lederer D; Lees M; López-González V; Maas S; Mancini GMS; Marcelis C; Martinez F; Maystadt I; McGuire M; McKee S; Mehta S; Metcalfe K; Milunsky J; Mizuno S; Moeschler JB; Netzer C; Ockeloen CW; Oehl-Jaschkowitz B; Okamoto N; Olminkhof SNM; Orellana C; Pasquier L; Pottinger C; Riehmer V; Robertson SP; Roifman M; Rooryck C; Ropers FG; Rosello M; Ruivenkamp CAL; Sagiroglu MS; Sallevelt SCEH; Sanchis Calvo A; Simsek-Kiper PO; Soares G; Solaeche L; Sonmez FM; Splitt M; Steenbeek D; Stegmann APA; Stumpel CTRM; Tanabe S; Uctepe E; Utine GE; Veenstra-Knol HE; Venkateswaran S; Vilain C; Vincent-Delorme C; Vulto-van Silfhout AT; Wheeler P; Wilson GN; Wilson LC; Wollnik B; Kosho T; Wieczorek D; Eichler E; Pfundt R; de Vries BBA; Clayton-Smith J; Santen GWE, Genetics in medicine : official journal of the American College of Medical Genetics, 21(6):1295 - 1307, 2018年11月
  • The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome., van der Sluijs PJ; Jansen S; Vergano SA; Adachi-Fukuda M; Alanay Y; AlKindy A; Baban A; Bayat A; Beck-Wödl S; Berry K; Bijlsma EK; Bok LA; Brouwer AFJ; van der Burgt I; Campeau PM; Canham N; Chrzanowska K; Chu YWY; Chung BHY; Dahan K; De Rademaeker M; Destree A; Dudding-Byth T; Earl R; Elcioglu N; Elias ER; Fagerberg C; Gardham A; Gener B; Gerkes EH; Grasshoff U; van Haeringen A; Heitink KR; Herkert JC; den Hollander NS; Horn D; Hunt D; Kant SG; Kato M; Kayserili H; Kersseboom R; Kilic E; Krajewska-Walasek M; Lammers K; Laulund LW; Lederer D; Lees M; López-González V; Maas S; Mancini GMS; Marcelis C; Martinez F; Maystadt I; McGuire M; McKee S; Mehta S; Metcalfe K; Milunsky J; Mizuno S; Moeschler JB; Netzer C; Ockeloen CW; Oehl-Jaschkowitz B; Okamoto N; Olminkhof SNM; Orellana C; Pasquier L; Pottinger C; Riehmer V; Robertson SP; Roifman M; Rooryck C; Ropers FG; Rosello M; Ruivenkamp CAL; Sagiroglu MS; Sallevelt SCEH; Sanchis Calvo A; Simsek-Kiper PO; Soares G; Solaeche L; Sonmez FM; Splitt M; Steenbeek D; Stegmann APA; Stumpel CTRM; Tanabe S; Uctepe E; Utine GE; Veenstra-Knol HE; Venkateswaran S; Vilain C; Vincent-Delorme C; Vulto-van Silfhout AT; Wheeler P; Wilson GN; Wilson LC; Wollnik B; Kosho T; Wieczorek D; Eichler E; Pfundt R; de Vries BBA; Clayton-Smith J; Santen GWE, Genetics in medicine : official journal of the American College of Medical Genetics, 21(6):1295 - 1307, 2018年11月
  • The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome., van der Sluijs PJ; Jansen S; Vergano SA; Adachi-Fukuda M; Alanay Y; AlKindy A; Baban A; Bayat A; Beck-Wödl S; Berry K; Bijlsma EK; Bok LA; Brouwer AFJ; van der Burgt I; Campeau PM; Canham N; Chrzanowska K; Chu YWY; Chung BHY; Dahan K; De Rademaeker M; Destree A; Dudding-Byth T; Earl R; Elcioglu N; Elias ER; Fagerberg C; Gardham A; Gener B; Gerkes EH; Grasshoff U; van Haeringen A; Heitink KR; Herkert JC; den Hollander NS; Horn D; Hunt D; Kant SG; Kato M; Kayserili H; Kersseboom R; Kilic E; Krajewska-Walasek M; Lammers K; Laulund LW; Lederer D; Lees M; López-González V; Maas S; Mancini GMS; Marcelis C; Martinez F; Maystadt I; McGuire M; McKee S; Mehta S; Metcalfe K; Milunsky J; Mizuno S; Moeschler JB; Netzer C; Ockeloen CW; Oehl-Jaschkowitz B; Okamoto N; Olminkhof SNM; Orellana C; Pasquier L; Pottinger C; Riehmer V; Robertson SP; Roifman M; Rooryck C; Ropers FG; Rosello M; Ruivenkamp CAL; Sagiroglu MS; Sallevelt SCEH; Sanchis Calvo A; Simsek-Kiper PO; Soares G; Solaeche L; Sonmez FM; Splitt M; Steenbeek D; Stegmann APA; Stumpel CTRM; Tanabe S; Uctepe E; Utine GE; Veenstra-Knol HE; Venkateswaran S; Vilain C; Vincent-Delorme C; Vulto-van Silfhout AT; Wheeler P; Wilson GN; Wilson LC; Wollnik B; Kosho T; Wieczorek D; Eichler E; Pfundt R; de Vries BBA; Clayton-Smith J; Santen GWE, Genetics in medicine : official journal of the American College of Medical Genetics, 21(6):1295 - 1307, 2018年11月
  • De novo PHACTR1 mutations in West syndrome and their pathophysiological effects., Hamada N; Ogaya S; Nakashima M; Nishijo T; Sugawara Y; Iwamoto I; Ito H; Maki Y; Shirai K; Baba S; Maruyama K; Saitsu H; Kato M; Matsumoto N; Momiyama T; Nagata KI, Brain : a journal of neurology, 141(11):3098 - 3114, 2018年11月
  • De novo PHACTR1 mutations in West syndrome and their pathophysiological effects., Hamada N; Ogaya S; Nakashima M; Nishijo T; Sugawara Y; Iwamoto I; Ito H; Maki Y; Shirai K; Baba S; Maruyama K; Saitsu H; Kato M; Matsumoto N; Momiyama T; Nagata KI, Brain : a journal of neurology, 141(11):3098 - 3114, 2018年11月
  • De novo PHACTR1 mutations in West syndrome and their pathophysiological effects., Hamada N; Ogaya S; Nakashima M; Nishijo T; Sugawara Y; Iwamoto I; Ito H; Maki Y; Shirai K; Baba S; Maruyama K; Saitsu H; Kato M; Matsumoto N; Momiyama T; Nagata KI, Brain : a journal of neurology, 141(11):3098 - 3114, 2018年11月
  • PRUNE1-related disorder: Expanding the clinical spectrum., Imagawa E; Yamamoto Y; Mitsuhashi S; Isidor B; Fukuyama T; Kato M; Sasaki M; Tanabe S; Miyatake S; Mizuguchi T; Takata A; Miyake N; Matsumoto N, Clin Genet., 94(3-4):362 - 367, 2018年10月
  • PRUNE1-related disorder: Expanding the clinical spectrum., Imagawa E; Yamamoto Y; Mitsuhashi S; Isidor B; Fukuyama T; Kato M; Sasaki M; Tanabe S; Miyatake S; Mizuguchi T; Takata A; Miyake N; Matsumoto N, Clin Genet., 94(3-4):362 - 367, 2018年10月
  • PRUNE1-related disorder: Expanding the clinical spectrum., Imagawa E; Yamamoto Y; Mitsuhashi S; Isidor B; Fukuyama T; Kato M; Sasaki M; Tanabe S; Miyatake S; Mizuguchi T; Takata A; Miyake N; Matsumoto N, Clin Genet., 94(3-4):362 - 367, 2018年10月
  • MECP2遺伝子変異を認めた進行性ミオクローヌスてんかんの2例, 温井 めぐみ; 川脇 壽; 永瀬 静香; 山本 直寛; 井上 岳司; 九鬼 一郎; 岡崎 伸; 中島 光子; 高田 篤; 松本 直通; 加藤 光広, てんかん研究, 36(2):502 - 502, 2018年09月
  • MECP2遺伝子変異を認めた進行性ミオクローヌスてんかんの2例, 温井 めぐみ; 川脇 壽; 永瀬 静香; 山本 直寛; 井上 岳司; 九鬼 一郎; 岡崎 伸; 中島 光子; 高田 篤; 松本 直通; 加藤 光広, てんかん研究, 36(2):502 - 502, 2018年09月
  • MECP2遺伝子変異を認めた進行性ミオクローヌスてんかんの2例, 温井 めぐみ; 川脇 壽; 永瀬 静香; 山本 直寛; 井上 岳司; 九鬼 一郎; 岡崎 伸; 中島 光子; 高田 篤; 松本 直通; 加藤 光広, てんかん研究, 36(2):502 - 502, 2018年09月
  • Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive., Daida A; Hamano SI; Ikemoto S; Matsuura R; Nakashima M; Matsumoto N; Kato M, Epileptic disorders : international epilepsy journal with videotape, 20(4):313 - 318, 2018年08月
  • Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive., Daida A; Hamano SI; Ikemoto S; Matsuura R; Nakashima M; Matsumoto N; Kato M, Epileptic disorders : international epilepsy journal with videotape, 20(4):313 - 318, 2018年08月
  • Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive., Daida A; Hamano SI; Ikemoto S; Matsuura R; Nakashima M; Matsumoto N; Kato M, Epileptic disorders : international epilepsy journal with videotape, 20(4):313 - 318, 2018年08月
  • Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria., MIYATAKE Satoko;KATO Mitsuhiro;SAWAISHI Yukio;SAITO Takashi;NAKASHIMA Mitsuko;MIZUGUCHI Takeshi;MITSUHASHI Satomi;TAKATA Atsushi;MIYAKE Noriko;SAITSU Hirotomo;MATSUMOTO Naomichi, Ann Neurol, 84(1):159 - 161, 2018年07月, 査読あり
  • De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy., FASSIO Anna;ESPOSITO Alessandro;KATO Mitsuhiro;SAITSU Hirotomo;MEI Davide;MARINI Carla;CONTI Valerio;NAKASHIMA Mitsuko;OKAMOTO Nobuhiko;OLMEZ Turker Akgun ;ALBUZ Burcu;SEMERCI Gündüz C Nur ;YANAGIHARA Keiko;BELMONTE Elisa;MARAGLIANO Luca;RAMSEY Keri;BALAK Chris;SINIARD Ashley;NARAYANAN Vinodh;C4RCD Research Group;OHBA Chihiro;SHIINA Masaaki;OGATA Kazuhiro;MATSUMOTO Naomichi;BENEFENATI Fabio;GUERRINI Renzo, Brain, 141(6):1703 - 1718, 2018年06月, 原著, 査読あり
  • A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome, Ikumi Hori; Fuyuki Miya; Yutaka Negishi; Ayako Hattori; Naoki Ando; Keith A. Boroevich; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh, Journal of Human Genetics, 63(9):1 - 7, 2018年06月
  • A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome, Ikumi Hori; Fuyuki Miya; Yutaka Negishi; Ayako Hattori; Naoki Ando; Keith A. Boroevich; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh, Journal of Human Genetics, 63(9):1 - 7, 2018年06月
  • A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome, Ikumi Hori; Fuyuki Miya; Yutaka Negishi; Ayako Hattori; Naoki Ando; Keith A. Boroevich; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh, Journal of Human Genetics, 63(9):1 - 7, 2018年06月
  • 二相性脳症を発症したSCN1A変異を有するDravet症候群の1例, 安孫子 貴洋; 中村 和幸; 横山 淳一; 阿部 暁子; 清水 行敏; 加藤 光広; 松本 直通; 三井 哲夫, 日本小児科学会雑誌, 122(6):1090 - 1091, 2018年06月
  • 二相性脳症を発症したSCN1A変異を有するDravet症候群の1例, 安孫子 貴洋; 中村 和幸; 横山 淳一; 阿部 暁子; 清水 行敏; 加藤 光広; 松本 直通; 三井 哲夫, 日本小児科学会雑誌, 122(6):1090 - 1091, 2018年06月
  • 二相性脳症を発症したSCN1A変異を有するDravet症候群の1例, 安孫子 貴洋; 中村 和幸; 横山 淳一; 阿部 暁子; 清水 行敏; 加藤 光広; 松本 直通; 三井 哲夫, 日本小児科学会雑誌, 122(6):1090 - 1091, 2018年06月
  • Progressive subglottic stenosis in a child with Pallister-Killian syndrome, Tadashi Shiohama; Katsunori Fujii; Kenji Shimizu; Hirofumi Ohashi; Tomozumi Takatani; Nobuhiko Okamoto; Gen Nishimura; Mitsuhiro Kato; Naoki Shimojo, Congenital Anomalies, 58(3):102 - 104, 2018年05月
  • Progressive subglottic stenosis in a child with Pallister-Killian syndrome, Tadashi Shiohama; Katsunori Fujii; Kenji Shimizu; Hirofumi Ohashi; Tomozumi Takatani; Nobuhiko Okamoto; Gen Nishimura; Mitsuhiro Kato; Naoki Shimojo, Congenital Anomalies, 58(3):102 - 104, 2018年05月
  • Progressive subglottic stenosis in a child with Pallister-Killian syndrome, Tadashi Shiohama; Katsunori Fujii; Kenji Shimizu; Hirofumi Ohashi; Tomozumi Takatani; Nobuhiko Okamoto; Gen Nishimura; Mitsuhiro Kato; Naoki Shimojo, Congenital Anomalies, 58(3):102 - 104, 2018年05月
  • 長期計画委員会企画 2035年の小児神経科医 学会と研究((国際)共同研究、学際的研究等), 多田 弘子; 福與 なおみ; 加藤 光広; 友田 明美, 脳と発達, 50(Suppl.):S211 - S211, 2018年05月
  • 長期計画委員会企画 2035年の小児神経科医 学会と研究((国際)共同研究、学際的研究等), 多田 弘子; 福與 なおみ; 加藤 光広; 友田 明美, 脳と発達, 50(Suppl.):S211 - S211, 2018年05月
  • 長期計画委員会企画 2035年の小児神経科医 学会と研究((国際)共同研究、学際的研究等), 多田 弘子; 福與 なおみ; 加藤 光広; 友田 明美, 脳と発達, 50(Suppl.):S211 - S211, 2018年05月
  • l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report., SHIOHAMA T;OHASHI H;SHIMIZU K;FUJII K;OBA D;TAKATANI T;KATO Mitsuhiro;SHIMOJO N, Brain Dev, 40(4):353 - 356, 2018年04月, 原著, 査読あり
  • Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders., MIZUGUCHI T;NAKASHIMA M;KATO Mitsuhiro;OKAMOTO N;KURAHASHI H;EKHILEVITCH N;SHIINA M;NISHIMURA G;SHIBATA T;MATSUO M;IKEDA T;OGATA K;TSUCHIDA N;MITSUHASHI S;MIYATAKE S;TAKATA A;MIYAKE N;HATA K;KANAME T;MATSUBARA Y;SAITSU H;MATSUMOTO N, Hum Mol Genet, 27(8):1421 - 1433, 2018年04月, 原著, 査読あり
  • De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy., NAKASHIMA M;KATO Mitsuhiro;AOTO K;SHIINA M;BELAL H;MUKAIDA S;KUMADA S;SATO A;ZEREM A;LERMAN-SAGIE T;LEV D;LEONG HY;TSURUSAKI Y;MIZUGUCHI T;MIYATAKE S;MIYAKE N;OGATA K;SAITSU H;MATSUMOTO N, Ann Neurol, 83(4):794 - 806, 2018年04月, 原著, 査読あり
  • De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy., Mitsuko Nakashima; Mitsuhiro Kato; Kazushi Aoto; Masaaki Shiina; Hazrat Belal; Souichi Mukaida; Satoko Kumada; Atsushi Sato; Ayelet Zerem; Tally Lerman-Sagie; Dorit Lev; Huey Yin Leong; Yoshinori Tsurusaki; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Kazuhiro Ogata; Hirotomo Saitsu; Naomichi Matsumoto, Annals of neurology, 83(4):794 - 806, 2018年04月
  • De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy., Mitsuko Nakashima; Mitsuhiro Kato; Kazushi Aoto; Masaaki Shiina; Hazrat Belal; Souichi Mukaida; Satoko Kumada; Atsushi Sato; Ayelet Zerem; Tally Lerman-Sagie; Dorit Lev; Huey Yin Leong; Yoshinori Tsurusaki; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Kazuhiro Ogata; Hirotomo Saitsu; Naomichi Matsumoto, Annals of neurology, 83(4):794 - 806, 2018年04月
  • De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy., Mitsuko Nakashima; Mitsuhiro Kato; Kazushi Aoto; Masaaki Shiina; Hazrat Belal; Souichi Mukaida; Satoko Kumada; Atsushi Sato; Ayelet Zerem; Tally Lerman-Sagie; Dorit Lev; Huey Yin Leong; Yoshinori Tsurusaki; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Kazuhiro Ogata; Hirotomo Saitsu; Naomichi Matsumoto, Annals of neurology, 83(4):794 - 806, 2018年04月
  • Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders., Takeshi Mizuguchi; Mitsuko Nakashima; Mitsuhiro Kato; Nobuhiko Okamoto; Hirokazu Kurahashi; Nina Ekhilevitch; Masaaki Shiina; Gen Nishimura; Takashi Shibata; Muneaki Matsuo; Tae Ikeda; Kazuhiro Ogata; Naomi Tsuchida; Satomi Mitsuhashi; Satoko Miyatake; Atsushi Takata; Noriko Miyake; Kenichiro Hata; Tadashi Kaname; Yoichi Matsubara; Hirotomo Saitsu; Naomichi Matsumoto, Human molecular genetics, 27(8):1421 - 1433, 2018年04月
  • Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders., Takeshi Mizuguchi; Mitsuko Nakashima; Mitsuhiro Kato; Nobuhiko Okamoto; Hirokazu Kurahashi; Nina Ekhilevitch; Masaaki Shiina; Gen Nishimura; Takashi Shibata; Muneaki Matsuo; Tae Ikeda; Kazuhiro Ogata; Naomi Tsuchida; Satomi Mitsuhashi; Satoko Miyatake; Atsushi Takata; Noriko Miyake; Kenichiro Hata; Tadashi Kaname; Yoichi Matsubara; Hirotomo Saitsu; Naomichi Matsumoto, Human molecular genetics, 27(8):1421 - 1433, 2018年04月
  • Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders., Takeshi Mizuguchi; Mitsuko Nakashima; Mitsuhiro Kato; Nobuhiko Okamoto; Hirokazu Kurahashi; Nina Ekhilevitch; Masaaki Shiina; Gen Nishimura; Takashi Shibata; Muneaki Matsuo; Tae Ikeda; Kazuhiro Ogata; Naomi Tsuchida; Satomi Mitsuhashi; Satoko Miyatake; Atsushi Takata; Noriko Miyake; Kenichiro Hata; Tadashi Kaname; Yoichi Matsubara; Hirotomo Saitsu; Naomichi Matsumoto, Human molecular genetics, 27(8):1421 - 1433, 2018年04月
  • l -Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report, Tadashi Shiohama; Hirofumi Ohashi; Kenji Shimizu; Katsunori Fujii; Daiju Oba; Tomozumi Takatani; Mitsuhiro Kato; Naoki Shimojo, Brain and Development, 40(4):353 - 356, 2018年04月
  • l -Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report, Tadashi Shiohama; Hirofumi Ohashi; Kenji Shimizu; Katsunori Fujii; Daiju Oba; Tomozumi Takatani; Mitsuhiro Kato; Naoki Shimojo, Brain and Development, 40(4):353 - 356, 2018年04月
  • l -Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report, Tadashi Shiohama; Hirofumi Ohashi; Kenji Shimizu; Katsunori Fujii; Daiju Oba; Tomozumi Takatani; Mitsuhiro Kato; Naoki Shimojo, Brain and Development, 40(4):353 - 356, 2018年04月
  • Detection of copy number variations in epilepsy using exome data., TSUCHIDA N;NAKASHIMA M;KATO Mitsuhiro;HEYMAN E;INUI T;HAGINOYA K;WATANABE S;CHIYONOBU T;MORIMOTO M;OHTA M;KUMAKURA A;Kubota M;KUMAGAI Y;HAMANO SI;LOURENCO CM;YAHAYA NA;CH'NG GS;NGU LH;FATTAL-VALEVSKI A;WEISZ Hubshman M;ORENSTEIN N;MAROM D;COHEN L;GOLDBERG-STERN H;UCHIYAMA Y;IMAGAWA E;MIZUGUCHI T;TAKATA A;MIYAKE N;NAKAJIMA H;SAITSU H;MIYATAKE S;MATSUMOTO N, Clin Genet, 93(3):577 - 587, 2018年03月, 原著, 査読あり
  • Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum., YOSHIDA M;NAKASHIMA M;OKANISHI T;KANAI S;FUJIMOTO A;ITOMI K;MORIMOTO M;SAITSU H;KATO Mitsuhiro;MATSUMOTO N;CHIYONOBU T, Clin Genet, 93(2):368 - 373, 2018年02月, 原著, 査読あり
  • Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy., TSUCHIDA N;NAKASHIMA M;MIYAUCHI A;YOSHITOMI S;KIMIZU T;GANESAN V;TEIK KW;CH'NG GS;KATO Mitsuhiro;MIZUGICHI T;TAKATA A;MIYATAKE S;MIYAKE N;OSAKA H;YAMAGATA T;NAKAJIMA H;SAITSU H;MATSUMOTO N, Clin Genet, 93(2):266 - 274, 2018年02月, 原著, 査読あり
  • De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders, AKITA Tenpei;AOTO Kazushi;KATO Mitsuhiro;SHIINA Masaaki;MUTOH Hiroki;NAKASHIMA Mitsuko;KUKI Ichiro;OKAZAKI Shin;MAGARA Shinichi;SHIIHARA Takashi;KENJI Kenji;AIBA Kaori;TOHYAMA Jun;OHBA Chihiro;MIYATAKE Satoko;MIYAKE Noriko;OGATA Kazuhiro;FUKUDA Atsuo;MATSUMOTO Naomichi;SAITSU Hirotomo, Ann Clin Transl Neurol, 5(3):280 - 296, 2018年01月, 原著, 査読あり
  • Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder., TAKATA A;MIYAKE N;TSURUSAKI Y;FUKAI R;MIYATAKE S;KOSHIMIZU E;KUSHIMA I;OKADA T;MORIKAWA M;UNO Y;ISHIZUKA K;NAKAMURA K;TSUJII M;YOSHIKAWA T;TOYOTA T;OKAMOTO N;HIRAKI Y;HASHIMOTO R;YASUDA Y;SAITOH S;OHASHI K;SAKAI Y;OHGA S;HARA T;KATO Mitsuhiro;NAKAMURA K;ITO A;SEIWA C;SHIRAHATA E;OSAKA H;MATSUMOTO A;TAKESHITA S;TOHYAMA J;SAIKUSA T;MATSUISHI T;NAKAMURA T;TSUBOI T;KATO T;SUZUKI T;SAITSU H;NAKASHIMA M;MIZUGUCHI T;TANAKA F;MORI N;OZAKI N;MATSUMOTO N, Cell Rep, 22(3):734 - 747, 2018年01月, 原著, 査読あり
  • De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism., HIRAIDE T;NAKASHIMA M;YAMOTO K;FUKUDA T;KATO Mitsuhiro;IKEDA H;SUGIE Y;AOTO K;KANAME T;NAKABAYASHI K;OGATA T;MATSUMOTO N;SAITSU H, Hum Genet, 137(1):95 - 104, 2018年01月, 原著, 査読あり
  • Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy., MUTOH Hiroki ;KATO Mitsuhiro;AKITA Tenpei;SHIBATA Takuma;WAKAMOTO Hiroyuki;IKEDA Hiroko;KITAURA Hiroki;AOTO Kazushi;NAKASHIMA Mitsuko;WANG Tianying;OHBA Chihiro;MIYATAKE Satoko;MIYAKE Noriko;KAKITA Akiyoshi;MIYAKE Kensuke;FUKUDA Atsuo;MATSUMOTO Naomichi;SAITSU Hirotomo, Am J Hum Genet, 102(1):321 - 329, 2018年01月, 査読あり
  • Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder., Atsushi Takata; Noriko Miyake; Yoshinori Tsurusaki; Ryoko Fukai; Satoko Miyatake; Eriko Koshimizu; Itaru Kushima; Takashi Okada; Mako Morikawa; Yota Uno; Kanako Ishizuka; Kazuhiko Nakamura; Masatsugu Tsujii; Takeo Yoshikawa; Tomoko Toyota; Nobuhiko Okamoto; Yoko Hiraki; Ryota Hashimoto; Yuka Yasuda; Shinji Saitoh; Kei Ohashi; Yasunari Sakai; Shouichi Ohga; Toshiro Hara; Mitsuhiro Kato; Kazuyuki Nakamura; Aiko Ito; Chizuru Seiwa; Emi Shirahata; Hitoshi Osaka; Ayumi Matsumoto; Saoko Takeshita; Jun Tohyama; Tomoko Saikusa; Toyojiro Matsuishi; Takumi Nakamura; Takashi Tsuboi; Tadafumi Kato; Toshifumi Suzuki; Hirotomo Saitsu; Mitsuko Nakashima; Takeshi Mizuguchi; Fumiaki Tanaka; Norio Mori; Norio Ozaki; Naomichi Matsumoto, Cell reports, 22(3):734 - 747, 2018年01月
  • Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder., Atsushi Takata; Noriko Miyake; Yoshinori Tsurusaki; Ryoko Fukai; Satoko Miyatake; Eriko Koshimizu; Itaru Kushima; Takashi Okada; Mako Morikawa; Yota Uno; Kanako Ishizuka; Kazuhiko Nakamura; Masatsugu Tsujii; Takeo Yoshikawa; Tomoko Toyota; Nobuhiko Okamoto; Yoko Hiraki; Ryota Hashimoto; Yuka Yasuda; Shinji Saitoh; Kei Ohashi; Yasunari Sakai; Shouichi Ohga; Toshiro Hara; Mitsuhiro Kato; Kazuyuki Nakamura; Aiko Ito; Chizuru Seiwa; Emi Shirahata; Hitoshi Osaka; Ayumi Matsumoto; Saoko Takeshita; Jun Tohyama; Tomoko Saikusa; Toyojiro Matsuishi; Takumi Nakamura; Takashi Tsuboi; Tadafumi Kato; Toshifumi Suzuki; Hirotomo Saitsu; Mitsuko Nakashima; Takeshi Mizuguchi; Fumiaki Tanaka; Norio Mori; Norio Ozaki; Naomichi Matsumoto, Cell reports, 22(3):734 - 747, 2018年01月
  • Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder., Atsushi Takata; Noriko Miyake; Yoshinori Tsurusaki; Ryoko Fukai; Satoko Miyatake; Eriko Koshimizu; Itaru Kushima; Takashi Okada; Mako Morikawa; Yota Uno; Kanako Ishizuka; Kazuhiko Nakamura; Masatsugu Tsujii; Takeo Yoshikawa; Tomoko Toyota; Nobuhiko Okamoto; Yoko Hiraki; Ryota Hashimoto; Yuka Yasuda; Shinji Saitoh; Kei Ohashi; Yasunari Sakai; Shouichi Ohga; Toshiro Hara; Mitsuhiro Kato; Kazuyuki Nakamura; Aiko Ito; Chizuru Seiwa; Emi Shirahata; Hitoshi Osaka; Ayumi Matsumoto; Saoko Takeshita; Jun Tohyama; Tomoko Saikusa; Toyojiro Matsuishi; Takumi Nakamura; Takashi Tsuboi; Tadafumi Kato; Toshifumi Suzuki; Hirotomo Saitsu; Mitsuko Nakashima; Takeshi Mizuguchi; Fumiaki Tanaka; Norio Mori; Norio Ozaki; Naomichi Matsumoto, Cell reports, 22(3):734 - 747, 2018年01月
  • De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism., Takuya Hiraide; Mitsuko Nakashima; Kaori Yamoto; Tokiko Fukuda; Mitsuhiro Kato; Hiroko Ikeda; Yoko Sugie; Kazushi Aoto; Tadashi Kaname; Kazuhiko Nakabayashi; Tsutomu Ogata; Naomichi Matsumoto; Hirotomo Saitsu, Human genetics, 137(1):95 - 104, 2018年01月
  • De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism., Takuya Hiraide; Mitsuko Nakashima; Kaori Yamoto; Tokiko Fukuda; Mitsuhiro Kato; Hiroko Ikeda; Yoko Sugie; Kazushi Aoto; Tadashi Kaname; Kazuhiko Nakabayashi; Tsutomu Ogata; Naomichi Matsumoto; Hirotomo Saitsu, Human genetics, 137(1):95 - 104, 2018年01月
  • De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism., Takuya Hiraide; Mitsuko Nakashima; Kaori Yamoto; Tokiko Fukuda; Mitsuhiro Kato; Hiroko Ikeda; Yoko Sugie; Kazushi Aoto; Tadashi Kaname; Kazuhiko Nakabayashi; Tsutomu Ogata; Naomichi Matsumoto; Hirotomo Saitsu, Human genetics, 137(1):95 - 104, 2018年01月
  • A recurrent homozygous NHLRC1 variant in siblings with Lafora disease., Araya N; Takahashi Y; Shimono M; Fukuda T; Kato M; Nakashima M; Matsumoto N; Saitsu H, Human genome variation, 5:16 - 16, 2018年
  • A recurrent homozygous NHLRC1 variant in siblings with Lafora disease., Araya N; Takahashi Y; Shimono M; Fukuda T; Kato M; Nakashima M; Matsumoto N; Saitsu H, Human genome variation, 5:16 - 16, 2018年
  • A recurrent homozygous NHLRC1 variant in siblings with Lafora disease., Araya N; Takahashi Y; Shimono M; Fukuda T; Kato M; Nakashima M; Matsumoto N; Saitsu H, Human genome variation, 5:16 - 16, 2018年
  • A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene, Tatsuharu Sato; Mitsuhiro Kato; Kaoru Moriyama; Kohei Haraguchi; Hirotomo Saitsu; Naomichi Matsumoto; Hiroyuki Moriuchi, Brain and Development, 40(9):819 - 823, 2018年
  • A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene, Tatsuharu Sato; Mitsuhiro Kato; Kaoru Moriyama; Kohei Haraguchi; Hirotomo Saitsu; Naomichi Matsumoto; Hiroyuki Moriuchi, Brain and Development, 40(9):819 - 823, 2018年
  • A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene, Tatsuharu Sato; Mitsuhiro Kato; Kaoru Moriyama; Kohei Haraguchi; Hirotomo Saitsu; Naomichi Matsumoto; Hiroyuki Moriuchi, Brain and Development, 40(9):819 - 823, 2018年
  • A variant in CRAT is associated with HLA-DQB1*06:02 negative essential hypersomnia (narcolepsy without cataplexy and idiopathic hypersomnia without long sleep time), Miyagawa T; Khor S-S; Toyoda H; Kanbayashi T; Imanishi A; Sagawa Y; Kotorii N; Kotorii T; Ariyoshi Y; Hashizume Y; Ogi K; Hiejima H; Kamei Y; Hida A; Miyamoto M; Ikegami A; Wada Y; Takami M; Higashiyama Y; Miyake R; Kondo H; Fujimura Y; Tamura Y; Taniyama Y; Omata N; Tanaka Y; Moriya S; Furuya H; Kato M; Kawamura Y; Otowa T; Miyashita A; Kojima H; Saji H; Shimada M; Yamasaki M; Kobayashi T; Misawa R; Kuwano R; Sasaki T; Ishigooka J; Wada Y; Tsuruta K; Chiba S; Tanaka F; Yamada N; Okawa M; Kuroda K; Kume K; Hirata K; Uchimura N; Shimizu T; Inoue Y; Honda Y; Mishima K; Honda M; Tokunaga K, Journal of Human Genetics, (in press), 2018年
  • A variant in CRAT is associated with HLA-DQB1*06:02 negative essential hypersomnia (narcolepsy without cataplexy and idiopathic hypersomnia without long sleep time), Miyagawa T; Khor S-S; Toyoda H; Kanbayashi T; Imanishi A; Sagawa Y; Kotorii N; Kotorii T; Ariyoshi Y; Hashizume Y; Ogi K; Hiejima H; Kamei Y; Hida A; Miyamoto M; Ikegami A; Wada Y; Takami M; Higashiyama Y; Miyake R; Kondo H; Fujimura Y; Tamura Y; Taniyama Y; Omata N; Tanaka Y; Moriya S; Furuya H; Kato M; Kawamura Y; Otowa T; Miyashita A; Kojima H; Saji H; Shimada M; Yamasaki M; Kobayashi T; Misawa R; Kuwano R; Sasaki T; Ishigooka J; Wada Y; Tsuruta K; Chiba S; Tanaka F; Yamada N; Okawa M; Kuroda K; Kume K; Hirata K; Uchimura N; Shimizu T; Inoue Y; Honda Y; Mishima K; Honda M; Tokunaga K, Journal of Human Genetics, (in press), 2018年
  • A variant in CRAT is associated with HLA-DQB1*06:02 negative essential hypersomnia (narcolepsy without cataplexy and idiopathic hypersomnia without long sleep time), Miyagawa T; Khor S-S; Toyoda H; Kanbayashi T; Imanishi A; Sagawa Y; Kotorii N; Kotorii T; Ariyoshi Y; Hashizume Y; Ogi K; Hiejima H; Kamei Y; Hida A; Miyamoto M; Ikegami A; Wada Y; Takami M; Higashiyama Y; Miyake R; Kondo H; Fujimura Y; Tamura Y; Taniyama Y; Omata N; Tanaka Y; Moriya S; Furuya H; Kato M; Kawamura Y; Otowa T; Miyashita A; Kojima H; Saji H; Shimada M; Yamasaki M; Kobayashi T; Misawa R; Kuwano R; Sasaki T; Ishigooka J; Wada Y; Tsuruta K; Chiba S; Tanaka F; Yamada N; Okawa M; Kuroda K; Kume K; Hirata K; Uchimura N; Shimizu T; Inoue Y; Honda Y; Mishima K; Honda M; Tokunaga K, Journal of Human Genetics, (in press), 2018年
  • Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics, Helbig, I.; Heinzen, E.L.; Mefford, H.C.; Berkovic, S.F.; Lowenstein, D.H.; Kato, M.; Cross, J.H.; Satishchandra, P.; De Jonghe, P.; Jiang, Y.; Goldman, A.; Petrou, S.; Tan, N.C.K., Epilepsia, 59(6), 2018年
  • Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics, Helbig, I.; Heinzen, E.L.; Mefford, H.C.; Berkovic, S.F.; Lowenstein, D.H.; Kato, M.; Cross, J.H.; Satishchandra, P.; De Jonghe, P.; Jiang, Y.; Goldman, A.; Petrou, S.; Tan, N.C.K., Epilepsia, 59(6), 2018年
  • Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics, Helbig, I.; Heinzen, E.L.; Mefford, H.C.; Berkovic, S.F.; Lowenstein, D.H.; Kato, M.; Cross, J.H.; Satishchandra, P.; De Jonghe, P.; Jiang, Y.; Goldman, A.; Petrou, S.; Tan, N.C.K., Epilepsia, 59(6), 2018年
  • A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology, Nobuhiko Okamoto; Yuki Tsuchiya; Fuyuki Miya; Tatsuhiko Tsunoda; Kumiko Yamashita; Keith A. Boroevich; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Daiju Kitagawa, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 173(10):2690 - 2696, 2017年10月
  • A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology, Nobuhiko Okamoto; Yuki Tsuchiya; Fuyuki Miya; Tatsuhiko Tsunoda; Kumiko Yamashita; Keith A. Boroevich; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Daiju Kitagawa, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 173(10):2690 - 2696, 2017年10月
  • A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology, Nobuhiko Okamoto; Yuki Tsuchiya; Fuyuki Miya; Tatsuhiko Tsunoda; Kumiko Yamashita; Keith A. Boroevich; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Daiju Kitagawa, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 173(10):2690 - 2696, 2017年10月
  • Siblings with optic neuropathy and RTN4IP1 mutation, Nobuhiko Okamoto; Fuyuki Miya; Yoshikazu Hatsukawa; Yasuhiro Suzuki; Kazumi Kawato; Yuto Yamamoto; Tatsuhiko Tsunoda; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki, JOURNAL OF HUMAN GENETICS, 62(10):927 - 929, 2017年10月
  • Siblings with optic neuropathy and RTN4IP1 mutation, Nobuhiko Okamoto; Fuyuki Miya; Yoshikazu Hatsukawa; Yasuhiro Suzuki; Kazumi Kawato; Yuto Yamamoto; Tatsuhiko Tsunoda; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki, JOURNAL OF HUMAN GENETICS, 62(10):927 - 929, 2017年10月
  • Siblings with optic neuropathy and RTN4IP1 mutation, Nobuhiko Okamoto; Fuyuki Miya; Yoshikazu Hatsukawa; Yasuhiro Suzuki; Kazumi Kawato; Yuto Yamamoto; Tatsuhiko Tsunoda; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki, JOURNAL OF HUMAN GENETICS, 62(10):927 - 929, 2017年10月
  • Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy, Steffen Syrbe; Frederike L. Harms; Elena Parrini; Martino Montomoli; Ulrike Muetze; Katherine L. Helbig; Tilman Polster; Beate Albrecht; Ulrich Bernbeck; Ellen van Binsbergen; Saskia Biskup; Lydie Burglen; Jonas Denecke; Benedicte Heron; Henrike O. Heyne; Georg F. Hoffmann; Frauke Hornemann; Takeshi Matsushige; Ryuki Matsuura; Mitsuhiro Kato; G. Christoph Korenke; Alma Kuechler; Constanze Laemmer; Andreas Merkenschlager; Cyril Mignot; Susanne Ruf; Mitsuko Nakashima; Hirotomo Saitsu; Hannah Stamberger; Tiziana Pisano; Jun Tohyama; Sarah Weckhuysen; Wendy Werckx; Julia Wickert; Francesco Mari; Nienke E. Verbeek; Rikke S. Moller; Bobby Koeleman; Naomichi Matsumoto; William B. Dobyns; Domenica Battaglia; Johannes R. Lemke; Kerstin Kutsche; Renzo Guerrini, BRAIN, 140(9):2322 - 2336, 2017年09月
  • Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy, Steffen Syrbe; Frederike L. Harms; Elena Parrini; Martino Montomoli; Ulrike Muetze; Katherine L. Helbig; Tilman Polster; Beate Albrecht; Ulrich Bernbeck; Ellen van Binsbergen; Saskia Biskup; Lydie Burglen; Jonas Denecke; Benedicte Heron; Henrike O. Heyne; Georg F. Hoffmann; Frauke Hornemann; Takeshi Matsushige; Ryuki Matsuura; Mitsuhiro Kato; G. Christoph Korenke; Alma Kuechler; Constanze Laemmer; Andreas Merkenschlager; Cyril Mignot; Susanne Ruf; Mitsuko Nakashima; Hirotomo Saitsu; Hannah Stamberger; Tiziana Pisano; Jun Tohyama; Sarah Weckhuysen; Wendy Werckx; Julia Wickert; Francesco Mari; Nienke E. Verbeek; Rikke S. Moller; Bobby Koeleman; Naomichi Matsumoto; William B. Dobyns; Domenica Battaglia; Johannes R. Lemke; Kerstin Kutsche; Renzo Guerrini, BRAIN, 140(9):2322 - 2336, 2017年09月
  • Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy, Steffen Syrbe; Frederike L. Harms; Elena Parrini; Martino Montomoli; Ulrike Muetze; Katherine L. Helbig; Tilman Polster; Beate Albrecht; Ulrich Bernbeck; Ellen van Binsbergen; Saskia Biskup; Lydie Burglen; Jonas Denecke; Benedicte Heron; Henrike O. Heyne; Georg F. Hoffmann; Frauke Hornemann; Takeshi Matsushige; Ryuki Matsuura; Mitsuhiro Kato; G. Christoph Korenke; Alma Kuechler; Constanze Laemmer; Andreas Merkenschlager; Cyril Mignot; Susanne Ruf; Mitsuko Nakashima; Hirotomo Saitsu; Hannah Stamberger; Tiziana Pisano; Jun Tohyama; Sarah Weckhuysen; Wendy Werckx; Julia Wickert; Francesco Mari; Nienke E. Verbeek; Rikke S. Moller; Bobby Koeleman; Naomichi Matsumoto; William B. Dobyns; Domenica Battaglia; Johannes R. Lemke; Kerstin Kutsche; Renzo Guerrini, BRAIN, 140(9):2322 - 2336, 2017年09月
  • A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate, Koji Kato; Fuyuki Miya; Ikumi Hori; Daisuke Ieda; Kei Ohashi; Yutaka Negishi; Ayako Hattori; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh, JOURNAL OF HUMAN GENETICS, 62(9):861 - 863, 2017年09月
  • A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate, Koji Kato; Fuyuki Miya; Ikumi Hori; Daisuke Ieda; Kei Ohashi; Yutaka Negishi; Ayako Hattori; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh, JOURNAL OF HUMAN GENETICS, 62(9):861 - 863, 2017年09月
  • A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate, Koji Kato; Fuyuki Miya; Ikumi Hori; Daisuke Ieda; Kei Ohashi; Yutaka Negishi; Ayako Hattori; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh, JOURNAL OF HUMAN GENETICS, 62(9):861 - 863, 2017年09月
  • 遺伝子異常によるてんかんに対する脳梁離断の有効性, 住友 典子; 齋藤 貴志; 須貝 研司; 池谷 直樹; 岩崎 真樹; 竹下 絵里; 本橋 裕子; 石山 昭彦; 中川 栄二; 廣瀬 伸一; 石井 敦士; 加藤 光広; 水口 剛; 松本 直通; 佐々木 征行, てんかん研究, 35(2):587 - 587, 2017年09月
  • 遺伝子異常によるてんかんに対する脳梁離断の有効性, 住友 典子; 齋藤 貴志; 須貝 研司; 池谷 直樹; 岩崎 真樹; 竹下 絵里; 本橋 裕子; 石山 昭彦; 中川 栄二; 廣瀬 伸一; 石井 敦士; 加藤 光広; 水口 剛; 松本 直通; 佐々木 征行, てんかん研究, 35(2):587 - 587, 2017年09月
  • 遺伝子異常によるてんかんに対する脳梁離断の有効性, 住友 典子; 齋藤 貴志; 須貝 研司; 池谷 直樹; 岩崎 真樹; 竹下 絵里; 本橋 裕子; 石山 昭彦; 中川 栄二; 廣瀬 伸一; 石井 敦士; 加藤 光広; 水口 剛; 松本 直通; 佐々木 征行, てんかん研究, 35(2):587 - 587, 2017年09月
  • Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement., Ikumi Hori; Takanobu Otomo; Mitsuko Nakashima; Fuyuki Miya; Yutaka Negishi; Hideaki Shiraishi; Yutaka Nonoda; Shinichi Magara; Jun Tohyama; Nobuhiko Okamoto; Takeshi Kumagai; Konomi Shimoda; Yoshiya Yukitake; Daigo Kajikawa; Tomohiro Morio; Ayako Hattori; Motoo Nakagawa; Naoki Ando; Ichizo Nishino; Mitsuhiro Kato; Tatsuhiko Tsunoda; Hirotomo Saitsu; Yonehiro Kanemura; Mami Yamasaki; Kenjiro Kosaki; Naomichi Matsumoto; Tamotsu Yoshimori; Shinji Saitoh, Scientific reports, 7(1):3552 - 3552, 2017年06月
  • Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement., Ikumi Hori; Takanobu Otomo; Mitsuko Nakashima; Fuyuki Miya; Yutaka Negishi; Hideaki Shiraishi; Yutaka Nonoda; Shinichi Magara; Jun Tohyama; Nobuhiko Okamoto; Takeshi Kumagai; Konomi Shimoda; Yoshiya Yukitake; Daigo Kajikawa; Tomohiro Morio; Ayako Hattori; Motoo Nakagawa; Naoki Ando; Ichizo Nishino; Mitsuhiro Kato; Tatsuhiko Tsunoda; Hirotomo Saitsu; Yonehiro Kanemura; Mami Yamasaki; Kenjiro Kosaki; Naomichi Matsumoto; Tamotsu Yoshimori; Shinji Saitoh, Scientific reports, 7(1):3552 - 3552, 2017年06月
  • Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement., Ikumi Hori; Takanobu Otomo; Mitsuko Nakashima; Fuyuki Miya; Yutaka Negishi; Hideaki Shiraishi; Yutaka Nonoda; Shinichi Magara; Jun Tohyama; Nobuhiko Okamoto; Takeshi Kumagai; Konomi Shimoda; Yoshiya Yukitake; Daigo Kajikawa; Tomohiro Morio; Ayako Hattori; Motoo Nakagawa; Naoki Ando; Ichizo Nishino; Mitsuhiro Kato; Tatsuhiko Tsunoda; Hirotomo Saitsu; Yonehiro Kanemura; Mami Yamasaki; Kenjiro Kosaki; Naomichi Matsumoto; Tamotsu Yoshimori; Shinji Saitoh, Scientific reports, 7(1):3552 - 3552, 2017年06月
  • Novel MCA/ID syndrome with ASH1L mutation, Nobuhiko Okamoto; Fuyuki Miya; Tatsuhiko Tsunoda; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 173(6):1644 - 1648, 2017年06月
  • Novel MCA/ID syndrome with ASH1L mutation, Nobuhiko Okamoto; Fuyuki Miya; Tatsuhiko Tsunoda; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 173(6):1644 - 1648, 2017年06月
  • Novel MCA/ID syndrome with ASH1L mutation, Nobuhiko Okamoto; Fuyuki Miya; Tatsuhiko Tsunoda; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 173(6):1644 - 1648, 2017年06月
  • PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder (vol 62, pg 525, 2017), Takeshi Mizuguchi; Mitsuko Nakashima; Mitsuhiro Kato; Keitaro Yamada; Tohru Okanishi; Nina Ekhilevitch; Hanna Mandel; Ayelet Eran; Miyuki Toyono; Yukio Sawaishi; Hirotaka Motoi; Masaaki Shiina; Kazuhiro Ogata; Satoko Miyatake; Noriko Miyake; Hirotomo Saitsu; Naomichi Matsumoto, JOURNAL OF HUMAN GENETICS, 62(5):587 - 587, 2017年05月
  • PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder (vol 62, pg 525, 2017), Takeshi Mizuguchi; Mitsuko Nakashima; Mitsuhiro Kato; Keitaro Yamada; Tohru Okanishi; Nina Ekhilevitch; Hanna Mandel; Ayelet Eran; Miyuki Toyono; Yukio Sawaishi; Hirotaka Motoi; Masaaki Shiina; Kazuhiro Ogata; Satoko Miyatake; Noriko Miyake; Hirotomo Saitsu; Naomichi Matsumoto, JOURNAL OF HUMAN GENETICS, 62(5):587 - 587, 2017年05月
  • PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder (vol 62, pg 525, 2017), Takeshi Mizuguchi; Mitsuko Nakashima; Mitsuhiro Kato; Keitaro Yamada; Tohru Okanishi; Nina Ekhilevitch; Hanna Mandel; Ayelet Eran; Miyuki Toyono; Yukio Sawaishi; Hirotaka Motoi; Masaaki Shiina; Kazuhiro Ogata; Satoko Miyatake; Noriko Miyake; Hirotomo Saitsu; Naomichi Matsumoto, JOURNAL OF HUMAN GENETICS, 62(5):587 - 587, 2017年05月
  • PLK4遺伝子の新規の複合ヘテロ接合変異は小脳症と網脈絡膜症を引き起こす(Novel compound heterozygous variants in PLK4 cause microcephaly and chorioretinopathy), 横井 摂理; 堤 真紀子; 宮 冬樹; 宮田 昌史; 加藤 光広; 岡本 伸彦; 角田 達彦; 山崎 麻美; 金村 米博; 小崎 健次郎; 齋藤 伸治; 倉橋 浩樹, 脳と発達, 49(Suppl.):S397 - S397, 2017年05月
  • PLK4遺伝子の新規の複合ヘテロ接合変異は小脳症と網脈絡膜症を引き起こす(Novel compound heterozygous variants in PLK4 cause microcephaly and chorioretinopathy), 横井 摂理; 堤 真紀子; 宮 冬樹; 宮田 昌史; 加藤 光広; 岡本 伸彦; 角田 達彦; 山崎 麻美; 金村 米博; 小崎 健次郎; 齋藤 伸治; 倉橋 浩樹, 脳と発達, 49(Suppl.):S397 - S397, 2017年05月
  • PLK4遺伝子の新規の複合ヘテロ接合変異は小脳症と網脈絡膜症を引き起こす(Novel compound heterozygous variants in PLK4 cause microcephaly and chorioretinopathy), 横井 摂理; 堤 真紀子; 宮 冬樹; 宮田 昌史; 加藤 光広; 岡本 伸彦; 角田 達彦; 山崎 麻美; 金村 米博; 小崎 健次郎; 齋藤 伸治; 倉橋 浩樹, 脳と発達, 49(Suppl.):S397 - S397, 2017年05月
  • PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder, Takeshi Mizuguchi; Mitsuko Nakashima; Mitsuhiro Kato; Keitaro Yamada; Tohru Okanishi; Nina Ekhilevitch; Hanna Mandel; Ayelet Eran; Miyuki Toyono; Yukio Sawaishi; Hirotaka Motoi; Masaaki Shiina; Kazuhiro Ogata; Satoko Miyatake; Noriko Miyake; Hirotomo Saitsu; Naomichi Matsumoto, JOURNAL OF HUMAN GENETICS, 62(5):525 - 529, 2017年05月
  • A Novel De Novo Germline Mutation Glu40Lys in AKT3 Causes Megalencephaly with Growth Hormone Deficiency, Masaki Takagi; Kazushige Dobashi; Keiko Nagahara; Mitsuhiro Kato; Gen Nishimura; Ryuji Fukuzawa; Satoshi Narumi; Tomonobu Hasegawa, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 173(4):1071 - 1076, 2017年04月, 原著, 査読あり
  • A severe pulmonary complication in a patient with COL4A1-related disorder: A case report, Yoshiichi Abe; Atsuko Matsuduka; Kazuo Okanari; Hiroaki Miyahara; Mitsuhiro Kato; Satoko Miyatake; Hirotomo Saitsu; Naomichi Matsumoto; Maeda Tomoki; Kenji Ihara, EUROPEAN JOURNAL OF MEDICAL GENETICS, 60(3):169 - 171, 2017年03月
  • A severe pulmonary complication in a patient with COL4A1-related disorder: A case report, Yoshiichi Abe; Atsuko Matsuduka; Kazuo Okanari; Hiroaki Miyahara; Mitsuhiro Kato; Satoko Miyatake; Hirotomo Saitsu; Naomichi Matsumoto; Maeda Tomoki; Kenji Ihara, EUROPEAN JOURNAL OF MEDICAL GENETICS, 60(3):169 - 171, 2017年03月
  • A severe pulmonary complication in a patient with COL4A1-related disorder: A case report, Yoshiichi Abe; Atsuko Matsuduka; Kazuo Okanari; Hiroaki Miyahara; Mitsuhiro Kato; Satoko Miyatake; Hirotomo Saitsu; Naomichi Matsumoto; Maeda Tomoki; Kenji Ihara, EUROPEAN JOURNAL OF MEDICAL GENETICS, 60(3):169 - 171, 2017年03月
  • A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy, Tomokazu Kimizu; Yukitoshi Takahashi; Taikan Oboshi; Asako Horino; Takayoshi Koike; Shinsaku Yoshitomi; Tatsuo Mori; Tokito Yamaguchi; Hiroko Ikeda; Nobuhiko Okamoto; Mitsuko Nakashima; Hirotomo Saitsu; Mitsuhiro Kato; Naomichi Matsumoto; Katsumi Imai, BRAIN & DEVELOPMENT, 39(3):256 - 260, 2017年03月
  • A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy, Tomokazu Kimizu; Yukitoshi Takahashi; Taikan Oboshi; Asako Horino; Takayoshi Koike; Shinsaku Yoshitomi; Tatsuo Mori; Tokito Yamaguchi; Hiroko Ikeda; Nobuhiko Okamoto; Mitsuko Nakashima; Hirotomo Saitsu; Mitsuhiro Kato; Naomichi Matsumoto; Katsumi Imai, BRAIN & DEVELOPMENT, 39(3):256 - 260, 2017年03月
  • A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy, Tomokazu Kimizu; Yukitoshi Takahashi; Taikan Oboshi; Asako Horino; Takayoshi Koike; Shinsaku Yoshitomi; Tatsuo Mori; Tokito Yamaguchi; Hiroko Ikeda; Nobuhiko Okamoto; Mitsuko Nakashima; Hirotomo Saitsu; Mitsuhiro Kato; Naomichi Matsumoto; Katsumi Imai, BRAIN & DEVELOPMENT, 39(3):256 - 260, 2017年03月
  • Angelman症候群4例の脳波所見および臨床経過の検討, 安孫子 貴洋; 中村 和幸; 横山 淳一; 中川 遼太; 佐々木 綾子; 加藤 光広; 三井 哲夫, 脳と発達, 49(2):145 - 145, 2017年03月
  • Angelman症候群4例の脳波所見および臨床経過の検討, 安孫子 貴洋; 中村 和幸; 横山 淳一; 中川 遼太; 佐々木 綾子; 加藤 光広; 三井 哲夫, 脳と発達, 49(2):145 - 145, 2017年03月
  • Angelman症候群4例の脳波所見および臨床経過の検討, 安孫子 貴洋; 中村 和幸; 横山 淳一; 中川 遼太; 佐々木 綾子; 加藤 光広; 三井 哲夫, 脳と発達, 49(2):145 - 145, 2017年03月
  • A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly, Yutaka Negishi; Fuyuki Miya; Ayako Hattori; Yoshikazu Johmura; Motoo Nakagawa; Naoki Ando; Ikumi Hori; Takao Togawa; Kohei Aoyama; Kei Ohashi; Shinobu Fukumura; Seiji Mizuno; Ayako Umemura; Yoko Kishimoto; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Makoto Nakanishi; Shinji Saitoh, BMC MEDICAL GENETICS, 18(1):4, 2017年01月
  • A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly, Yutaka Negishi; Fuyuki Miya; Ayako Hattori; Yoshikazu Johmura; Motoo Nakagawa; Naoki Ando; Ikumi Hori; Takao Togawa; Kohei Aoyama; Kei Ohashi; Shinobu Fukumura; Seiji Mizuno; Ayako Umemura; Yoko Kishimoto; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Makoto Nakanishi; Shinji Saitoh, BMC MEDICAL GENETICS, 18(1):4, 2017年01月
  • Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability, Nanako Hamada; Yutaka Negishi; Makoto Mizuno; Fuyuki Miya; Ayako Hattori; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Hidenori Tabata; Shinji Saitoh; Koh-ichi Nagata, JOURNAL OF NEUROCHEMISTRY, 140(1):82 - 95, 2017年01月
  • Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability, Nanako Hamada; Yutaka Negishi; Makoto Mizuno; Fuyuki Miya; Ayako Hattori; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Hidenori Tabata; Shinji Saitoh; Koh-ichi Nagata, JOURNAL OF NEUROCHEMISTRY, 140(1):82 - 95, 2017年01月
  • Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy, Makiko Tsutsumi; Setsuri Yokoi; Fuyuki Miya; Masafumi Miyata; Mitsuhiro Kato; Nobuhiko Okamoto; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh; Hiroki Kurahashi, EUROPEAN JOURNAL OF HUMAN GENETICS, 24(12):1702 - 1706, 2016年12月
  • Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy, Makiko Tsutsumi; Setsuri Yokoi; Fuyuki Miya; Masafumi Miyata; Mitsuhiro Kato; Nobuhiko Okamoto; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh; Hiroki Kurahashi, EUROPEAN JOURNAL OF HUMAN GENETICS, 24(12):1702 - 1706, 2016年12月
  • Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy, Mirna Assoum; Christophe Philippe; Bertrand Isidor; Laurence Perrin; Periklis Makrythanasis; Neal Sondheimer; Caroline Paris; Jessica Douglas; Gaetan Lesca; Stylianos Antonarakis; Hanan Hamamy; Thibaud Jouan; Yannis Duffourd; Stephane Auvin; Aline Saunier; Amber Begtrup; Catherine Nowak; Nicolas Chatron; Dorothee Ville; Kamiar Mireskandari; Paolo Milani; Philippe Jonveaux; Guylene Lemeur; Mathieu Milh; Masano Amamoto; Mitsuhiro Kato; Mitsuko Nakashima; Noriko Miyake; Naomichi Matsumoto; Amira Masri; Christel Thauvin-Robinet; Jean-Baptiste Riviere; Laurence Faivre; Julien Thevenon, AMERICAN JOURNAL OF HUMAN GENETICS, 99(6):1368 - 1376, 2016年12月
  • Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy, Mirna Assoum; Christophe Philippe; Bertrand Isidor; Laurence Perrin; Periklis Makrythanasis; Neal Sondheimer; Caroline Paris; Jessica Douglas; Gaetan Lesca; Stylianos Antonarakis; Hanan Hamamy; Thibaud Jouan; Yannis Duffourd; Stephane Auvin; Aline Saunier; Amber Begtrup; Catherine Nowak; Nicolas Chatron; Dorothee Ville; Kamiar Mireskandari; Paolo Milani; Philippe Jonveaux; Guylene Lemeur; Mathieu Milh; Masano Amamoto; Mitsuhiro Kato; Mitsuko Nakashima; Noriko Miyake; Naomichi Matsumoto; Amira Masri; Christel Thauvin-Robinet; Jean-Baptiste Riviere; Laurence Faivre; Julien Thevenon, AMERICAN JOURNAL OF HUMAN GENETICS, 99(6):1368 - 1376, 2016年12月
  • Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation, Yu Kobayashi; Shinichi Magara; Kenichi Okazaki; Takao Komatsubara; Hirotomo Saitsu; Naomichi Matsumoto; Mitsuhiro Kato; Jun Tohyama, BRAIN & DEVELOPMENT, 38(10):950 - 953, 2016年11月
  • Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation, Yu Kobayashi; Shinichi Magara; Kenichi Okazaki; Takao Komatsubara; Hirotomo Saitsu; Naomichi Matsumoto; Mitsuhiro Kato; Jun Tohyama, BRAIN & DEVELOPMENT, 38(10):950 - 953, 2016年11月
  • DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst, K. Zaha; H. Matsumoto; M. Itoh; H. Saitsu; K. Kato; M. Kato; S. Ogata; K. Murayama; Y. Kishita; Y. Mizuno; M. Kohda; I. Nishino; A. Ohtake; Y. Okazaki; N. Matsumoto; S. Nonoyama, Clinical Genetics, 90(5):472 - 474, 2016年11月
  • DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst, K. Zaha; H. Matsumoto; M. Itoh; H. Saitsu; K. Kato; M. Kato; S. Ogata; K. Murayama; Y. Kishita; Y. Mizuno; M. Kohda; I. Nishino; A. Ohtake; Y. Okazaki; N. Matsumoto; S. Nonoyama, Clinical Genetics, 90(5):472 - 474, 2016年11月
  • Characterization of SPATA5-related encephalopathy in early childhood, H. Kurata; H. Terashima; M. Nakashima; T. Okazaki; W. Matsumura; K. Ohno; Y. Saito; Y. Maegaki; M. Kubota; E. Nanba; H. Saitsu; N. Matsumoto; M. Kato, CLINICAL GENETICS, 90(5):437 - 444, 2016年11月
  • Characterization of SPATA5-related encephalopathy in early childhood, H. Kurata; H. Terashima; M. Nakashima; T. Okazaki; W. Matsumura; K. Ohno; Y. Saito; Y. Maegaki; M. Kubota; E. Nanba; H. Saitsu; N. Matsumoto; M. Kato, CLINICAL GENETICS, 90(5):437 - 444, 2016年11月
  • Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy., Noriko Miyake; Ryoko Fukai; Chihiro Ohba; Takahiro Chihara; Masayuki Miura; Hiroshi Shimizu; Akiyoshi Kakita; Eri Imagawa; Masaaki Shiina; Kazuhiro Ogata; Jiu Okuno-Yuguchi; Noboru Fueki; Yoshifumi Ogiso; Hiroshi Suzumura; Yoshiyuki Watabe; George Imataka; Huey Yin Leong; Aviva Fattal-Valevski; Uri Kramer; Satoko Miyatake; Mitsuhiro Kato; Nobuhiko Okamoto; Yoshinori Sato; Satomi Mitsuhashi; Ichizo Nishino; Naofumi Kaneko; Akira Nishiyama; Tomohiko Tamura; Takeshi Mizuguchi; Mitsuko Nakashima; Fumiaki Tanaka; Hirotomo Saitsu; Naomichi Matsumoto, American journal of human genetics, 99(4):950 - 961, 2016年10月
  • Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy., Noriko Miyake; Ryoko Fukai; Chihiro Ohba; Takahiro Chihara; Masayuki Miura; Hiroshi Shimizu; Akiyoshi Kakita; Eri Imagawa; Masaaki Shiina; Kazuhiro Ogata; Jiu Okuno-Yuguchi; Noboru Fueki; Yoshifumi Ogiso; Hiroshi Suzumura; Yoshiyuki Watabe; George Imataka; Huey Yin Leong; Aviva Fattal-Valevski; Uri Kramer; Satoko Miyatake; Mitsuhiro Kato; Nobuhiko Okamoto; Yoshinori Sato; Satomi Mitsuhashi; Ichizo Nishino; Naofumi Kaneko; Akira Nishiyama; Tomohiko Tamura; Takeshi Mizuguchi; Mitsuko Nakashima; Fumiaki Tanaka; Hirotomo Saitsu; Naomichi Matsumoto, American journal of human genetics, 99(4):950 - 961, 2016年10月
  • Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord, Mitsugu Uematsu; Kazuhiro Haginoya; Atsuo Kikuchi; Naomi Hino-Fukuyo; Keiko Ishii; Takashi Shiihara; Mitsuhiro Kato; Atsushi Kamei; Shigeo Kure, BRAIN & DEVELOPMENT, 38(9):819 - 826, 2016年10月
  • Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord, Mitsugu Uematsu; Kazuhiro Haginoya; Atsuo Kikuchi; Naomi Hino-Fukuyo; Keiko Ishii; Takashi Shiihara; Mitsuhiro Kato; Atsushi Kamei; Shigeo Kure, BRAIN & DEVELOPMENT, 38(9):819 - 826, 2016年10月
  • Combinatory use of central venous catheter and ethanol lock for a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome., Motoi H; Shimizu H; Fujiwara Y; Watanabe Y; Kato M; Takeshita S, No to hattatsu = Brain and development, 48(5):347 - 350, 2016年09月
  • Combinatory use of central venous catheter and ethanol lock for a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome., Motoi H; Shimizu H; Fujiwara Y; Watanabe Y; Kato M; Takeshita S, No to hattatsu = Brain and development, 48(5):347 - 350, 2016年09月
  • Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report, Rieko Sato; Jun-ichi Takanashi; Yu Tsuyusaki; Mitsuhiro Kato; Hirotomo Saitsu; Naomichi Matsumoto; Takao Takahashi, PEDIATRICS, 138(3), 2016年09月
  • Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report, Rieko Sato; Jun-ichi Takanashi; Yu Tsuyusaki; Mitsuhiro Kato; Hirotomo Saitsu; Naomichi Matsumoto; Takao Takahashi, PEDIATRICS, 138(3), 2016年09月
  • 発熱を誘因として急性脳症をきたしたSCN8A遺伝子変異てんかん性脳症の女児例, 中村 涼子; 今城 透; 松倉 幹; チョン・ピンフィー; 吉良 龍太郎; 加藤 光広, てんかん研究, 34(2):544 - 544, 2016年09月
  • 発熱を誘因として急性脳症をきたしたSCN8A遺伝子変異てんかん性脳症の女児例, 中村 涼子; 今城 透; 松倉 幹; チョン・ピンフィー; 吉良 龍太郎; 加藤 光広, てんかん研究, 34(2):544 - 544, 2016年09月
  • エタノールロック療法により安定した栄養管理が可能となった脳梁欠損と外性器異常を伴うX連鎖性滑脳症の1例, 本井 宏尚; 清水 博之; 藤原 祐; 渡辺 好宏; 加藤 光広; 武下 草生子, 脳と発達, 48(5):347 - 350, 2016年09月
  • エタノールロック療法により安定した栄養管理が可能となった脳梁欠損と外性器異常を伴うX連鎖性滑脳症の1例, 本井 宏尚; 清水 博之; 藤原 祐; 渡辺 好宏; 加藤 光広; 武下 草生子, 脳と発達, 48(5):347 - 350, 2016年09月
  • Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy, Akiko Suga; Atsushi Mizota; Mitsuhiro Kato; Kazuki Kuniyoshi; Kazutoshi Yoshitake; William Sultan; Masashi Yamazaki; Yoshikazu Shimomura; Kazuho Ikeo; Kazushige Tsunoda; Takeshi Iwata, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 57(10):4255 - 4263, 2016年08月
  • Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy, Akiko Suga; Atsushi Mizota; Mitsuhiro Kato; Kazuki Kuniyoshi; Kazutoshi Yoshitake; William Sultan; Masashi Yamazaki; Yoshikazu Shimomura; Kazuho Ikeo; Kazushige Tsunoda; Takeshi Iwata, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 57(10):4255 - 4263, 2016年08月
  • Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay, Hirotomo Saitsu; Miho Watanabe; Tenpei Akita; Chihiro Ohba; Kenji Sugai; Winnie Peitee Ong; Hideaki Shiraishi; Shota Yuasa; Hiroshi Matsumoto; Khoo Teik Beng; Shinji Saitoh; Satoko Miyatake; Mitsuko Nakashima; Noriko Miyake; Mitsuhiro Kato; Atsuo Fukuda; Naomichi Matsumoto, SCIENTIFIC REPORTS, 6:30072, 2016年07月
  • Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay, Hirotomo Saitsu; Miho Watanabe; Tenpei Akita; Chihiro Ohba; Kenji Sugai; Winnie Peitee Ong; Hideaki Shiraishi; Shota Yuasa; Hiroshi Matsumoto; Khoo Teik Beng; Shinji Saitoh; Satoko Miyatake; Mitsuko Nakashima; Noriko Miyake; Mitsuhiro Kato; Atsuo Fukuda; Naomichi Matsumoto, SCIENTIFIC REPORTS, 6:30072, 2016年07月
  • Novel Splicing Mutation in the ASXL3 Gene Causing Bainbridge-Ropers Syndrome, Ikumi Hori; Fuyuki Miya; Kei Ohashi; Yutaka Negishi; Ayako Hattori; Naoki Ando; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 170(7):1863 - 1867, 2016年07月
  • Novel Splicing Mutation in the ASXL3 Gene Causing Bainbridge-Ropers Syndrome, Ikumi Hori; Fuyuki Miya; Kei Ohashi; Yutaka Negishi; Ayako Hattori; Naoki Ando; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 170(7):1863 - 1867, 2016年07月
  • WDR45 mutations in three male patients with West syndrome, Mitsuko Nakashima; Kyoko Takano; Yu Tsuyusaki; Shinsaku Yoshitomi; Masayuki Shimono; Yoshihiro Aoki; Mitsuhiro Kato; Noriko Aida; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Hitoshi Osaka; Hirotomo Saitsu; Naomichi Matsumoto, JOURNAL OF HUMAN GENETICS, 61(7):653 - 661, 2016年07月
  • WDR45 mutations in three male patients with West syndrome, Mitsuko Nakashima; Kyoko Takano; Yu Tsuyusaki; Shinsaku Yoshitomi; Masayuki Shimono; Yoshihiro Aoki; Mitsuhiro Kato; Noriko Aida; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Hitoshi Osaka; Hirotomo Saitsu; Naomichi Matsumoto, JOURNAL OF HUMAN GENETICS, 61(7):653 - 661, 2016年07月
  • In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations, Yohei Bamba; Tomoko Shofuda; Mitsuhiro Kato; Ritsuko K. Pooh; Yoko Tateishi; Jun-ichi Takanashi; Hidetsuna Utsunomiya; Miho Sumida; Daisuke Kanematsu; Hiroshi Suemizu; Yuichiro Higuchi; Wado Akamatsu; Denis Gallagher; Freda D. Miller; Mami Yamasaki; Yonehiro Kanemura; Hideyuki Okano, MOLECULAR BRAIN, 9(1):70, 2016年07月
  • In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations, Yohei Bamba; Tomoko Shofuda; Mitsuhiro Kato; Ritsuko K. Pooh; Yoko Tateishi; Jun-ichi Takanashi; Hidetsuna Utsunomiya; Miho Sumida; Daisuke Kanematsu; Hiroshi Suemizu; Yuichiro Higuchi; Wado Akamatsu; Denis Gallagher; Freda D. Miller; Mami Yamasaki; Yonehiro Kanemura; Hideyuki Okano, MOLECULAR BRAIN, 9(1):70, 2016年07月
  • 一過性の失語と片麻痺を合併したParry-Romberg症候群の一例, 横山 淳一; 篠崎 敏行; 中村 和幸; 木村 敏之; 加藤 光広; 三井 哲夫, 脳と発達, 48(Suppl.):S405 - S405, 2016年05月
  • 一過性の失語と片麻痺を合併したParry-Romberg症候群の一例, 横山 淳一; 篠崎 敏行; 中村 和幸; 木村 敏之; 加藤 光広; 三井 哲夫, 脳と発達, 48(Suppl.):S405 - S405, 2016年05月
  • Dandy-Walker malformationにおける遺伝子解析, 原田 敦子; 宮 冬樹; 宇都宮 英綱; 山中 巧; 吉川 大和; 三木 美智子; 正札 智子; 加藤 光広; 齋藤 信治; 岡本 伸彦; 小崎 健次郎; 角田 達彦; 金村 米博; 山崎 麻美, 脳と発達, 48(Suppl.):S293 - S293, 2016年05月
  • Dandy-Walker malformationにおける遺伝子解析, 原田 敦子; 宮 冬樹; 宇都宮 英綱; 山中 巧; 吉川 大和; 三木 美智子; 正札 智子; 加藤 光広; 齋藤 信治; 岡本 伸彦; 小崎 健次郎; 角田 達彦; 金村 米博; 山崎 麻美, 脳と発達, 48(Suppl.):S293 - S293, 2016年05月
  • Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma, Hirotomo Saitsu; Masaki Sonoda; Takefumi Higashijima; Hiroshi Shirozu; Hiroshi Masuda; Jun Tohyama; Mitsuhiro Kato; Mitsuko Nakashima; Yoshinori Tsurusaki; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Shigeki Kameyama; Naomichi Matsumoto, ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 3(5):356 - 365, 2016年05月
  • Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma, Hirotomo Saitsu; Masaki Sonoda; Takefumi Higashijima; Hiroshi Shirozu; Hiroshi Masuda; Jun Tohyama; Mitsuhiro Kato; Mitsuko Nakashima; Yoshinori Tsurusaki; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Shigeki Kameyama; Naomichi Matsumoto, ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 3(5):356 - 365, 2016年05月
  • 結節性硬化症に併発したウエスト症候群に対してビガバトリンが有効であった1例, 松内 祥子; 中村 和幸; 阿部 暁子; 三井 哲夫; 加藤 光広, 日本小児科学会雑誌, 120(5):924 - 924, 2016年05月
  • 結節性硬化症に併発したウエスト症候群に対してビガバトリンが有効であった1例, 松内 祥子; 中村 和幸; 阿部 暁子; 三井 哲夫; 加藤 光広, 日本小児科学会雑誌, 120(5):924 - 924, 2016年05月
  • Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia, Periklis Makrythanasis; Mitsuhiro Kato; Maha S. Zaki; Hirotomo Saitsu; Kazuyuki Nakamura; Federico A. Santoni; Satoko Miyatake; Mitsuko Nakashima; Mahmoud Y. Issa; Michel Guipponi; Audrey Letourneau; Clare V. Logan; Nicola Roberts; David A. Parry; Colin A. Johnson; Naomichi Matsumoto; Hanan Hamamy; Eamonn Sheridan; Taroh Kinoshita; Stylianos E. Antonarakis; Yoshiko Murakami, AMERICAN JOURNAL OF HUMAN GENETICS, 98(4):615 - 626, 2016年04月
  • Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia, Periklis Makrythanasis; Mitsuhiro Kato; Maha S. Zaki; Hirotomo Saitsu; Kazuyuki Nakamura; Federico A. Santoni; Satoko Miyatake; Mitsuko Nakashima; Mahmoud Y. Issa; Michel Guipponi; Audrey Letourneau; Clare V. Logan; Nicola Roberts; David A. Parry; Colin A. Johnson; Naomichi Matsumoto; Hanan Hamamy; Eamonn Sheridan; Taroh Kinoshita; Stylianos E. Antonarakis; Yoshiko Murakami, AMERICAN JOURNAL OF HUMAN GENETICS, 98(4):615 - 626, 2016年04月
  • De novo GABRA1 mutations in Ohtahara and West syndromes, Hirofumi Kodera; Chihiro Ohba; Mitsuhiro Kato; Toshiyuki Maeda; Kaoru Araki; Daisuke Tajima; Muneaki Matsuo; Naomi Hino-Fukuyo; Kosuke Kohashi; Akihiko Ishiyama; Saoko Takeshita; Hirotaka Motoi; Taro Kitamura; Atsuo Kikuchi; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Masayuki Sasaki; Shigeo Kure; Kazuhiro Haginoya; Hirotomo Saitsu; Naomichi Matsumoto, EPILEPSIA, 57(4):566 - 573, 2016年04月
  • De novo GABRA1 mutations in Ohtahara and West syndromes, Hirofumi Kodera; Chihiro Ohba; Mitsuhiro Kato; Toshiyuki Maeda; Kaoru Araki; Daisuke Tajima; Muneaki Matsuo; Naomi Hino-Fukuyo; Kosuke Kohashi; Akihiko Ishiyama; Saoko Takeshita; Hirotaka Motoi; Taro Kitamura; Atsuo Kikuchi; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Masayuki Sasaki; Shigeo Kure; Kazuhiro Haginoya; Hirotomo Saitsu; Naomichi Matsumoto, EPILEPSIA, 57(4):566 - 573, 2016年04月
  • Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy, Satoshi Yamashita; Tomohiro Chiyonobu; Michiko Yoshida; Hiroshi Maeda; Masashi Zuiki; Satoshi Kidowaki; Kenichi Isoda; Masafumi Morimoto; Mitsuhiro Kato; Hirotomo Saitsu; Naomichi Matsumoto; Tatsutoshi Nakahata; Megumu K. Saito; Hajime Hosoi, EPILEPSIA, 57(4):E81 - E86, 2016年04月
  • Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy, Satoshi Yamashita; Tomohiro Chiyonobu; Michiko Yoshida; Hiroshi Maeda; Masashi Zuiki; Satoshi Kidowaki; Kenichi Isoda; Masafumi Morimoto; Mitsuhiro Kato; Hirotomo Saitsu; Naomichi Matsumoto; Tatsutoshi Nakahata; Megumu K. Saito; Hajime Hosoi, EPILEPSIA, 57(4):E81 - E86, 2016年04月
  • High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders, Yu Kobayashi; Jun Tohyama; Mitsuhiro Kato; Noriyuki Akasaka; Shinichi Magara; Hideshi Kawashima; Tsukasa Ohashi; Hideaki Shiraishi; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto, BRAIN & DEVELOPMENT, 38(3):285 - 292, 2016年03月
  • High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders, Yu Kobayashi; Jun Tohyama; Mitsuhiro Kato; Noriyuki Akasaka; Shinichi Magara; Hideshi Kawashima; Tsukasa Ohashi; Hideaki Shiraishi; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto, BRAIN & DEVELOPMENT, 38(3):285 - 292, 2016年03月
  • Genes Responsible for Epileptic Syndromes, Mitsuhiro Kato, Brain and Nerve, 68(2):159 - 164, 2016年02月
  • Genes Responsible for Epileptic Syndromes, Mitsuhiro Kato, Brain and Nerve, 68(2):159 - 164, 2016年02月
  • C21orf2遺伝子変異を検出したskeletal ciliopathyの姉弟例, 沼倉 周彦; 中村 和幸; 三井 哲夫; 加藤 光広, 日本小児科学会雑誌, 120(2):278 - 278, 2016年02月
  • C21orf2遺伝子変異を検出したskeletal ciliopathyの姉弟例, 沼倉 周彦; 中村 和幸; 三井 哲夫; 加藤 光広, 日本小児科学会雑誌, 120(2):278 - 278, 2016年02月
  • A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis., Fukumura S; Kato M; Kawamura K; Tsuzuki A; Tsutsumi H, Child neurology open, 3:2329048X16665758, 2016年01月
  • A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis., Fukumura S; Kato M; Kawamura K; Tsuzuki A; Tsutsumi H, Child neurology open, 3:2329048X16665758, 2016年01月
  • TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis, Setsuri Yokoi; Naoko Ishihara; Fuyuki Miya; Makiko Tsutsumi; Itaru Yanagihara; Naoko Fujita; Hiroyuki Yamamoto; Mitsuhiro Kato; Nobuhiko Okamoto; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Seiji Kojima; Shinji Saitoh; Hiroki Kurahashi; Jun Natsume, SCIENTIFIC REPORTS, 5:15165, 2015年10月
  • TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis, Setsuri Yokoi; Naoko Ishihara; Fuyuki Miya; Makiko Tsutsumi; Itaru Yanagihara; Naoko Fujita; Hiroyuki Yamamoto; Mitsuhiro Kato; Nobuhiko Okamoto; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Seiji Kojima; Shinji Saitoh; Hiroki Kurahashi; Jun Natsume, SCIENTIFIC REPORTS, 5:15165, 2015年10月
  • De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing, Hirotomo Saitsu; Tenpei Akita; Jun Tohyama; Hadassa Goldberg-Stern; Yu Kobayashi; Roni Cohen; Mitsuhiro Kato; Chihiro Ohba; Satoko Miyatake; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Atsuo Fukuda; Naomichi Matsumoto, SCIENTIFIC REPORTS, 5:15199, 2015年10月
  • De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing, Hirotomo Saitsu; Tenpei Akita; Jun Tohyama; Hadassa Goldberg-Stern; Yu Kobayashi; Roni Cohen; Mitsuhiro Kato; Chihiro Ohba; Satoko Miyatake; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Atsuo Fukuda; Naomichi Matsumoto, SCIENTIFIC REPORTS, 5:15199, 2015年10月
  • De novo KCNT1 mutations in early-onset epileptic encephalopathy, Chihiro Ohba; Mitsuhiro Kato; Nobuya Takahashi; Hitoshi Osaka; Takashi Shiihara; Jun Tohyama; Shin Nabatame; Junji Azuma; Yuji Fujii; Munetsugu Hara; Reimi Tsurusawa; Takahito Inoue; Reina Ogata; Yoriko Watanabe; Noriko Togashi; Hirofumi Kodera; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Fumiaki Tanaka; Hirotomo Saitsu; Naomichi Matsumoto, EPILEPSIA, 56(9):E121 - E128, 2015年09月
  • De novo KCNT1 mutations in early-onset epileptic encephalopathy, Chihiro Ohba; Mitsuhiro Kato; Nobuya Takahashi; Hitoshi Osaka; Takashi Shiihara; Jun Tohyama; Shin Nabatame; Junji Azuma; Yuji Fujii; Munetsugu Hara; Reimi Tsurusawa; Takahito Inoue; Reina Ogata; Yoriko Watanabe; Noriko Togashi; Hirofumi Kodera; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Fumiaki Tanaka; Hirotomo Saitsu; Naomichi Matsumoto, EPILEPSIA, 56(9):E121 - E128, 2015年09月
  • Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb, Mitsuko Nakashima; Hirotomo Saitsu; Nobuyuki Takei; Jun Tohyama; Mitsuhiro Kato; Hiroki Kitaura; Masaaki Shiina; Hiroshi Shirozu; Hiroshi Masuda; Keisuke Watanabe; Chihiro Ohba; Yoshinori Tsurusaki; Noriko Miyake; Yingjun Zheng; Tatsuhiro Sato; Hirohide Takebayashi; Kazuhiro Ogata; Shigeki Kameyama; Akiyoshi Kakita; Naomichi Matsumoto, Annals of Neurology, 78(3):375 - 386, 2015年09月
  • Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb, Mitsuko Nakashima; Hirotomo Saitsu; Nobuyuki Takei; Jun Tohyama; Mitsuhiro Kato; Hiroki Kitaura; Masaaki Shiina; Hiroshi Shirozu; Hiroshi Masuda; Keisuke Watanabe; Chihiro Ohba; Yoshinori Tsurusaki; Noriko Miyake; Yingjun Zheng; Tatsuhiro Sato; Hirohide Takebayashi; Kazuhiro Ogata; Shigeki Kameyama; Akiyoshi Kakita; Naomichi Matsumoto, Annals of Neurology, 78(3):375 - 386, 2015年09月
  • Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders, N. Okamoto; F. Miya; T. Tsunoda; M. Kato; S. Saitoh; M. Yamasaki; A. Shimizu; C. Torii; Y. Kanemura; K. Kosaki, CLINICAL GENETICS, 88(3):288 - 292, 2015年09月
  • Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders, N. Okamoto; F. Miya; T. Tsunoda; M. Kato; S. Saitoh; M. Yamasaki; A. Shimizu; C. Torii; Y. Kanemura; K. Kosaki, CLINICAL GENETICS, 88(3):288 - 292, 2015年09月
  • SCN 2A遺伝子変異を有する早期発症てんかん性脳症2例のてんかん発作と脳波所見の変遷, 福山 哲広; 平野 悟; 佐々木 拓; 中嶋 英子; 笛木 昇; 中川 栄二; 加藤 光広; 石井 敦士; 廣瀬 伸一; 平林 伸一, てんかん研究, 33(2):550 - 550, 2015年09月
  • SCN 2A遺伝子変異を有する早期発症てんかん性脳症2例のてんかん発作と脳波所見の変遷, 福山 哲広; 平野 悟; 佐々木 拓; 中嶋 英子; 笛木 昇; 中川 栄二; 加藤 光広; 石井 敦士; 廣瀬 伸一; 平林 伸一, てんかん研究, 33(2):550 - 550, 2015年09月
  • 重度発達遅滞、てんかん、進行性小脳・大脳萎縮、髄鞘化遅延を呈したSPTAN1変異の1症例, 熊谷 勇治; 小一原 玲子; 平田 佑子; 大場 温子; 菊池 健二郎; 田中 学; 南谷 幹之; 浜野 晋一郎; 加藤 光広, 脳と発達, 47(5):377 - 377, 2015年09月
  • 重度発達遅滞、てんかん、進行性小脳・大脳萎縮、髄鞘化遅延を呈したSPTAN1変異の1症例, 熊谷 勇治; 小一原 玲子; 平田 佑子; 大場 温子; 菊池 健二郎; 田中 学; 南谷 幹之; 浜野 晋一郎; 加藤 光広, 脳と発達, 47(5):377 - 377, 2015年09月
  • Two siblings with cortical dysplasia: Clinico-electroencephalographic features, Tatsuya Fukasawa; Tetsuo Kubota; Tamiko Negoro; Shinsuke Maruyama; Ryoko Honda; Yuko Saito; Masayuki Itoh; Akiyoshi Kakita; Kenji Sugai; Taisuke Otsuki; Mitsuhiro Kato; Jun Natsume; Kazuyoshi Watanabe, PEDIATRICS INTERNATIONAL, 57(3):472 - 475, 2015年06月
  • Two siblings with cortical dysplasia: Clinico-electroencephalographic features, Tatsuya Fukasawa; Tetsuo Kubota; Tamiko Negoro; Shinsuke Maruyama; Ryoko Honda; Yuko Saito; Masayuki Itoh; Akiyoshi Kakita; Kenji Sugai; Taisuke Otsuki; Mitsuhiro Kato; Jun Natsume; Kazuyoshi Watanabe, PEDIATRICS INTERNATIONAL, 57(3):472 - 475, 2015年06月
  • GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders, Chihiro Ohba; Masaaki Shiina; Jun Tohyama; Kazuhiro Haginoya; Tally Lerman-Sagie; Nobuhiko Okamoto; Lubov Blumkin; Dorit Lev; Souichi Mukaida; Fumihito Nozaki; Mitsugu Uematsu; Akira Onuma; Hirofumi Kodera; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Fumiaki Tanaka; Mitsuhiro Kato; Kazuhiro Ogata; Hirotomo Saitsu; Naomichi Matsumoto, EPILEPSIA, 56(6):841 - 848, 2015年06月
  • GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders, Chihiro Ohba; Masaaki Shiina; Jun Tohyama; Kazuhiro Haginoya; Tally Lerman-Sagie; Nobuhiko Okamoto; Lubov Blumkin; Dorit Lev; Souichi Mukaida; Fumihito Nozaki; Mitsugu Uematsu; Akira Onuma; Hirofumi Kodera; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Fumiaki Tanaka; Mitsuhiro Kato; Kazuhiro Ogata; Hirotomo Saitsu; Naomichi Matsumoto, EPILEPSIA, 56(6):841 - 848, 2015年06月
  • Primary Microcephaly with Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM, Kazuyuki Nakamura; Takehiko Inui; Fuyuki Miya; Yonehiro Kanemura; Nobuhiko Okamoto; Shinji Saitoh; Mami Yamasaki; Tatsuhiko Tsunoda; Kenjiro Kosaki; Soichiro Tanaka; Mitsuhiro Kato, Pediatric Neurology, 52(5):e7 - e8, 2015年05月
  • Primary Microcephaly with Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM, Kazuyuki Nakamura; Takehiko Inui; Fuyuki Miya; Yonehiro Kanemura; Nobuhiko Okamoto; Shinji Saitoh; Mami Yamasaki; Tatsuhiko Tsunoda; Kenjiro Kosaki; Soichiro Tanaka; Mitsuhiro Kato, Pediatric Neurology, 52(5):e7 - e8, 2015年05月
  • SCN8A遺伝子の新生変異による大田原症候群の1例, 原口 康平; 緒方 怜奈; 中村 涼子; 松倉 幹; チョン・ピンフィー; 吉良 龍太郎; 加藤 光広, 脳と発達, 47(Suppl.):S393 - S393, 2015年05月
  • SCN8A遺伝子の新生変異による大田原症候群の1例, 原口 康平; 緒方 怜奈; 中村 涼子; 松倉 幹; チョン・ピンフィー; 吉良 龍太郎; 加藤 光広, 脳と発達, 47(Suppl.):S393 - S393, 2015年05月
  • AHI1遺伝子変異をもつJoubert症候群の一例, 小出 彩香; 雨宮 馨; 加藤 光広; 足立 香織; 難波 栄二; 冨田 直; 三山 佐保子, 脳と発達, 47(Suppl.):S390 - S390, 2015年05月
  • AHI1遺伝子変異をもつJoubert症候群の一例, 小出 彩香; 雨宮 馨; 加藤 光広; 足立 香織; 難波 栄二; 冨田 直; 三山 佐保子, 脳と発達, 47(Suppl.):S390 - S390, 2015年05月
  • Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother, Satoru Takeshita; Machiko Higuchi; Megumi Suyama; Wakato Koide; Kanemasa Maki; Katsumi Ushijima; Kyoko Ban; Mariko Saito; Mitsuhiro Kato; Shinji Saitoh, PEDIATRICS INTERNATIONAL, 57(2):321 - 323, 2015年04月
  • Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother, Satoru Takeshita; Machiko Higuchi; Megumi Suyama; Wakato Koide; Kanemasa Maki; Katsumi Ushijima; Kyoko Ban; Mariko Saito; Mitsuhiro Kato; Shinji Saitoh, PEDIATRICS INTERNATIONAL, 57(2):321 - 323, 2015年04月
  • SPTAN1 encephalopathy: distinct phenotypes and genotypes, Jun Tohyama; Mitsuko Nakashima; Shin Nabatame; Ch'ng Gaik-Siew; Rie Miyata; Zvonka Rener-Primec; Mitsuhiro Kato; Naomichi Matsumoto; Hirotomo Saitsu, JOURNAL OF HUMAN GENETICS, 60(4):167 - 173, 2015年04月
  • SPTAN1 encephalopathy: distinct phenotypes and genotypes, Jun Tohyama; Mitsuko Nakashima; Shin Nabatame; Ch'ng Gaik-Siew; Rie Miyata; Zvonka Rener-Primec; Mitsuhiro Kato; Naomichi Matsumoto; Hirotomo Saitsu, JOURNAL OF HUMAN GENETICS, 60(4):167 - 173, 2015年04月
  • Efficacy of long term weekly ACTH therapy for intractable epilepsy, Takehiko Inui; Tomoko Kobayashi; Satoru Kobayashi; Ryo Sato; Wakaba Endo; Atsuo Kikuchi; Tojo Nakayama; Mitsugu Uematsu; Masaru Takayanagi; Mitsuhiro Kato; Hirotomo Saitsu; Naomichi Matsumoto; Shigeo Kure; Kazuhiro Haginoya, BRAIN & DEVELOPMENT, 37(4):449 - 454, 2015年04月
  • Efficacy of long term weekly ACTH therapy for intractable epilepsy, Takehiko Inui; Tomoko Kobayashi; Satoru Kobayashi; Ryo Sato; Wakaba Endo; Atsuo Kikuchi; Tojo Nakayama; Mitsugu Uematsu; Masaru Takayanagi; Mitsuhiro Kato; Hirotomo Saitsu; Naomichi Matsumoto; Shigeo Kure; Kazuhiro Haginoya, BRAIN & DEVELOPMENT, 37(4):449 - 454, 2015年04月
  • De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy, J. Nakajima; N. Okamoto; J. Tohyama; M. Kato; H. Arai; O. Funahashi; Y. Tsurusaki; M. Nakashima; H. Kawashima; H. Saitsu; N. Matsumoto; N. Miyake, CLINICAL GENETICS, 87(4):356 - 361, 2015年04月
  • De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy, J. Nakajima; N. Okamoto; J. Tohyama; M. Kato; H. Arai; O. Funahashi; Y. Tsurusaki; M. Nakashima; H. Kawashima; H. Saitsu; N. Matsumoto; N. Miyake, CLINICAL GENETICS, 87(4):356 - 361, 2015年04月
  • A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations, Fuyuki Miya; Mitsuhiro Kato; Tadashi Shiohama; Nobuhiko Okamoto; Shinji Saitoh; Mami Yamasaki; Daichi Shigemizu; Tetsuo Abe; Takashi Morizono; Keith A. Boroevich; Kenjiro Kosaki; Yonehiro Kanemura; Tatsuhiko Tsunoda, SCIENTIFIC REPORTS, 5:9331, 2015年03月
  • A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations, Fuyuki Miya; Mitsuhiro Kato; Tadashi Shiohama; Nobuhiko Okamoto; Shinji Saitoh; Mami Yamasaki; Daichi Shigemizu; Tetsuo Abe; Takashi Morizono; Keith A. Boroevich; Kenjiro Kosaki; Yonehiro Kanemura; Tatsuhiko Tsunoda, SCIENTIFIC REPORTS, 5:9331, 2015年03月
  • Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3, Atsuko Harada; Fuyuki Miya; Hidetsuna Utsunomiya; Mitsuhiro Kato; Takumi Yamanaka; Tatsuhiko Tsunoda; Kenjiro Kosaki; Yonehiro Kanemura; Mami Yamasaki, CHILDS NERVOUS SYSTEM, 31(3):465 - 471, 2015年03月
  • Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3, Atsuko Harada; Fuyuki Miya; Hidetsuna Utsunomiya; Mitsuhiro Kato; Takumi Yamanaka; Tatsuhiko Tsunoda; Kenjiro Kosaki; Yonehiro Kanemura; Mami Yamasaki, CHILDS NERVOUS SYSTEM, 31(3):465 - 471, 2015年03月
  • New susceptibility variants to narcolepsy identified in HLA class II region, Taku Miyagawa; Hiromi Toyoda; Akane Hirataka; Takashi Kanbayashi; Aya Imanishi; Yohei Sagawa; Nozomu Kotorii; Tatayu Kotorii; Yuji Hashizume; Kimihiro Ogi; Hiroshi Hiejima; Yuichi Kamei; Akiko Hida; Masayuki Miyamoto; Makoto Imai; Yota Fujimura; Yoshiyuki Tamura; Azusa Ikegami; Yamato Wada; Shunpei Moriya; Hirokazu Furuya; Mitsuhiro Kato; Naoto Omata; Hiroto Kojima; Koichi Kashiwase; Hiroh Saji; Seik-Soon Khor; Maria Yamasaki; Yuji Wada; Jun Ishigooka; Kenji Kuroda; Kazuhiko Kume; Shigeru Chiba; Naoto Yamada; Masako Okawa; Koichi Hirata; Naohisa Uchimura; Tetsuo Shimizu; Yuichi Inoue; Yutaka Honda; Kazuo Mishima; Makoto Honda; Katsushi Tokunaga, HUMAN MOLECULAR GENETICS, 24(3):891 - 898, 2015年02月
  • New susceptibility variants to narcolepsy identified in HLA class II region, Taku Miyagawa; Hiromi Toyoda; Akane Hirataka; Takashi Kanbayashi; Aya Imanishi; Yohei Sagawa; Nozomu Kotorii; Tatayu Kotorii; Yuji Hashizume; Kimihiro Ogi; Hiroshi Hiejima; Yuichi Kamei; Akiko Hida; Masayuki Miyamoto; Makoto Imai; Yota Fujimura; Yoshiyuki Tamura; Azusa Ikegami; Yamato Wada; Shunpei Moriya; Hirokazu Furuya; Mitsuhiro Kato; Naoto Omata; Hiroto Kojima; Koichi Kashiwase; Hiroh Saji; Seik-Soon Khor; Maria Yamasaki; Yuji Wada; Jun Ishigooka; Kenji Kuroda; Kazuhiko Kume; Shigeru Chiba; Naoto Yamada; Masako Okawa; Koichi Hirata; Naohisa Uchimura; Tetsuo Shimizu; Yuichi Inoue; Yutaka Honda; Kazuo Mishima; Makoto Honda; Katsushi Tokunaga, HUMAN MOLECULAR GENETICS, 24(3):891 - 898, 2015年02月
  • Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias, Mitsuhiro Kato, Frontiers in Neuroscience, 9(MAY):181, 2015年
  • Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias, Mitsuhiro Kato, Frontiers in Neuroscience, 9(MAY):181, 2015年
  • An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population., Miyagawa T; Toyoda H; Kanbayashi T; Imanishi A; Sagawa Y; Kotorii N; Kotorii T; Hashizume Y; Ogi K; Hiejima H; Kamei Y; Hida A; Miyamoto M; Ikegami A; Wada Y; Takami M; Fujimura Y; Tamura Y; Omata N; Masuya Y; Kondo H; Moriya S; Furuya H; Kato M; Kojima H; Kashiwase K; Saji H; Khor SS; Yamasaki M; Ishigooka J; Wada Y; Chiba S; Yamada N; Okawa M; Kuroda K; Kume K; Hirata K; Uchimura N; Shimizu T; Inoue Y; Honda Y; Mishima K; Honda M; Tokunaga K, Human genome variation, 2(1):15031, 2015年
  • An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population., Miyagawa T; Toyoda H; Kanbayashi T; Imanishi A; Sagawa Y; Kotorii N; Kotorii T; Hashizume Y; Ogi K; Hiejima H; Kamei Y; Hida A; Miyamoto M; Ikegami A; Wada Y; Takami M; Fujimura Y; Tamura Y; Omata N; Masuya Y; Kondo H; Moriya S; Furuya H; Kato M; Kojima H; Kashiwase K; Saji H; Khor SS; Yamasaki M; Ishigooka J; Wada Y; Chiba S; Yamada N; Okawa M; Kuroda K; Kume K; Hirata K; Uchimura N; Shimizu T; Inoue Y; Honda Y; Mishima K; Honda M; Tokunaga K, Human genome variation, 2(1):15031, 2015年
  • Truncating mutation in NFIA causes brain malformation and urinary tract defects., Negishi Y; Miya F; Hattori A; Mizuno K; Hori I; Ando N; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Saitoh S, Human genome variation, 2:15007 - 15007, 2015年
  • Truncating mutation in NFIA causes brain malformation and urinary tract defects., Negishi Y; Miya F; Hattori A; Mizuno K; Hori I; Ando N; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Saitoh S, Human genome variation, 2:15007 - 15007, 2015年
  • The somatic GNAQ mutation c.548G > A (p.R183Q) is consistently found in Sturge-Weber syndrome, Mitsuko Nakashima; Masakazu Miyajima; Hidenori Sugano; Yasushi Iimura; Mitsuhiro Kato; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Hajime Arai; Naomichi Matsumoto, JOURNAL OF HUMAN GENETICS, 59(12):691 - 693, 2014年12月
  • The somatic GNAQ mutation c.548G > A (p.R183Q) is consistently found in Sturge-Weber syndrome, Mitsuko Nakashima; Masakazu Miyajima; Hidenori Sugano; Yasushi Iimura; Mitsuhiro Kato; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Hajime Arai; Naomichi Matsumoto, JOURNAL OF HUMAN GENETICS, 59(12):691 - 693, 2014年12月
  • KIF1A mutation in a patient with progressive neurodegeneration, Nobuhiko Okamoto; Fuyuki Miya; Tatsuhiko Tsunoda; Keiko Yanagihara; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki, JOURNAL OF HUMAN GENETICS, 59(11):639 - 641, 2014年11月
  • KIF1A mutation in a patient with progressive neurodegeneration, Nobuhiko Okamoto; Fuyuki Miya; Tatsuhiko Tsunoda; Keiko Yanagihara; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki, JOURNAL OF HUMAN GENETICS, 59(11):639 - 641, 2014年11月
  • A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation, Hirotomo Saitsu; Jun Tohyama; Tom Walsh; Mitsuhiro Kato; Yu Kobayashi; Ming Lee; Yoshinori Tsurusaki; Noriko Miyake; Yu-ichi Goto; Ichizo Nishino; Akira Ohtake; Mary-Claire King; Naomichi Matsumoto, JOURNAL OF HUMAN GENETICS, 59(10):581 - 583, 2014年10月
  • A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation, Hirotomo Saitsu; Jun Tohyama; Tom Walsh; Mitsuhiro Kato; Yu Kobayashi; Ming Lee; Yoshinori Tsurusaki; Noriko Miyake; Yu-ichi Goto; Ichizo Nishino; Akira Ohtake; Mary-Claire King; Naomichi Matsumoto, JOURNAL OF HUMAN GENETICS, 59(10):581 - 583, 2014年10月
  • 心筋肥大を契機に遺伝子診断されたNoonan症候群の1例, 青木 倉揚; 鈴木 浩; 加藤 光広; 佐々木 綾子; 若林 崇; 中村 和幸; 早坂 清; 笹 真一; 土田 哲生; 本間 信夫; 岡田 昌彦, 日本小児科学会雑誌, 118(9):1406 - 1406, 2014年09月
  • 心筋肥大を契機に遺伝子診断されたNoonan症候群の1例, 青木 倉揚; 鈴木 浩; 加藤 光広; 佐々木 綾子; 若林 崇; 中村 和幸; 早坂 清; 笹 真一; 土田 哲生; 本間 信夫; 岡田 昌彦, 日本小児科学会雑誌, 118(9):1406 - 1406, 2014年09月
  • Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3, Mitsuko Nakashima; Hirofumi Kashii; Yoshiko Murakami; Mitsuhiro Kato; Yoshinori Tsurusaki; Noriko Miyake; Masaya Kubota; Taroh Kinoshita; Hirotomo Saitsu; Naomichi Matsumoto, NEUROGENETICS, 15(3):193 - 200, 2014年08月
  • Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3, Mitsuko Nakashima; Hirofumi Kashii; Yoshiko Murakami; Mitsuhiro Kato; Yoshinori Tsurusaki; Noriko Miyake; Masaya Kubota; Taroh Kinoshita; Hirotomo Saitsu; Naomichi Matsumoto, NEUROGENETICS, 15(3):193 - 200, 2014年08月
  • Early onset epileptic encephalopathy caused by de novo SCN8A mutations, Chihiro Ohba; Mitsuhiro Kato; Satoru Takahashi; Tally Lerman-Sagie; Dorit Lev; Hiroshi Terashima; Masaya Kubota; Hisashi Kawawaki; Mayumi Matsufuji; Yasuko Kojima; Akihiko Tateno; Hadassa Goldberg-Stern; Rachel Straussberg; Dafna Marom; Esther Leshinsky-Silver; Mitsuko Nakashima; Kiyomi Nishiyama; Yoshinori Tsurusaki; Noriko Miyake; Fumiaki Tanaka; Naomichi Matsumoto; Hirotomo Saitsu, EPILEPSIA, 55(7):994 - 1000, 2014年07月
  • Early onset epileptic encephalopathy caused by de novo SCN8A mutations, Chihiro Ohba; Mitsuhiro Kato; Satoru Takahashi; Tally Lerman-Sagie; Dorit Lev; Hiroshi Terashima; Masaya Kubota; Hisashi Kawawaki; Mayumi Matsufuji; Yasuko Kojima; Akihiko Tateno; Hadassa Goldberg-Stern; Rachel Straussberg; Dafna Marom; Esther Leshinsky-Silver; Mitsuko Nakashima; Kiyomi Nishiyama; Yoshinori Tsurusaki; Noriko Miyake; Fumiaki Tanaka; Naomichi Matsumoto; Hirotomo Saitsu, EPILEPSIA, 55(7):994 - 1000, 2014年07月
  • Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria, Yuji Fujii; Nobutsune Ishikawa; Yoshiyuki Kobayashi; Masao Kobayashi; Mitsuhiro Kato, BRAIN & DEVELOPMENT, 36(6):528 - 531, 2014年06月
  • Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria, Yuji Fujii; Nobutsune Ishikawa; Yoshiyuki Kobayashi; Masao Kobayashi; Mitsuhiro Kato, BRAIN & DEVELOPMENT, 36(6):528 - 531, 2014年06月
  • Serum and CSF biomarkers in acute pediatric neurological disorders, Takashi Shiihara; Taeko Miyake; Sakiko Izumi; Susumu Sugihara; Mio Watanabe; Jun-ichi Takanashi; Masaya Kubota; Mitsuhiro Kato, BRAIN & DEVELOPMENT, 36(6):489 - 495, 2014年06月
  • Serum and CSF biomarkers in acute pediatric neurological disorders, Takashi Shiihara; Taeko Miyake; Sakiko Izumi; Susumu Sugihara; Mio Watanabe; Jun-ichi Takanashi; Masaya Kubota; Mitsuhiro Kato, BRAIN & DEVELOPMENT, 36(6):489 - 495, 2014年06月
  • [Molecular genetics of intractable epilepsies]., Kato M, No to hattatsu = Brain and development, 46(3):191 - 194, 2014年05月
  • [Molecular genetics of intractable epilepsies]., Kato M, No to hattatsu = Brain and development, 46(3):191 - 194, 2014年05月
  • PIGA mutations cause early-onset epileptic encephalopathies and distinctive features, Mitsuhiro Kato; Hirotomo Saitsu; Yoshiko Murakami; Kenjiro Kikuchi; Shuei Watanabe; Mizue Iai; Kazushi Miya; Ryuki Matsuura; Rumiko Takayama; Chihiro Ohba; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Shin-ichiro Hamano; Hitoshi Osaka; Kiyoshi Hayasaka; Taroh Kinoshita; Naomichi Matsumoto, NEUROLOGY, 82(18):1587 - 1596, 2014年05月
  • PIGA mutations cause early-onset epileptic encephalopathies and distinctive features, Mitsuhiro Kato; Hirotomo Saitsu; Yoshiko Murakami; Kenjiro Kikuchi; Shuei Watanabe; Mizue Iai; Kazushi Miya; Ryuki Matsuura; Rumiko Takayama; Chihiro Ohba; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Shin-ichiro Hamano; Hitoshi Osaka; Kiyoshi Hayasaka; Taroh Kinoshita; Naomichi Matsumoto, NEUROLOGY, 82(18):1587 - 1596, 2014年05月
  • AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH, K. Nakamura; M. Kato; J. Tohyama; T. Shiohama; K. Hayasaka; K. Nishiyama; H. Kodera; M. Nakashima; Y. Tsurusaki; N. Miyake; N. Matsumoto; H. Saitsu, CLINICAL GENETICS, 85(4):396 - 398, 2014年04月
  • AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH, K. Nakamura; M. Kato; J. Tohyama; T. Shiohama; K. Hayasaka; K. Nishiyama; H. Kodera; M. Nakashima; Y. Tsurusaki; N. Miyake; N. Matsumoto; H. Saitsu, CLINICAL GENETICS, 85(4):396 - 398, 2014年04月
  • Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility, Richard J. Leventer; Floor E. Jansen; Simone A. Mandelstam; Alice Ho; Ismail Mohamed; Harvey B. Sarnat; Mitsuhiro Kato; Tatsuya Fukasawa; Hirotomo Saitsu; Naomichi Matsumoto; Masayuki Itoh; Renate M. Kalnins; Chung W. Chow; A. Simon Harvey; Graeme D. Jackson; Peter B. Crino; Samuel F. Berkovic; Ingrid E. Scheffer, EPILEPSIA, 55(3):E22 - E26, 2014年03月
  • Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility, Richard J. Leventer; Floor E. Jansen; Simone A. Mandelstam; Alice Ho; Ismail Mohamed; Harvey B. Sarnat; Mitsuhiro Kato; Tatsuya Fukasawa; Hirotomo Saitsu; Naomichi Matsumoto; Masayuki Itoh; Renate M. Kalnins; Chung W. Chow; A. Simon Harvey; Graeme D. Jackson; Peter B. Crino; Samuel F. Berkovic; Ingrid E. Scheffer, EPILEPSIA, 55(3):E22 - E26, 2014年03月
  • A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study., Abe J; Nakamura K; Nishikomori R; Kato M; Mitsuiki N; Izawa K; Awaya T; Kawai T; Yasumi T; Toyoshima I; Hasegawa K; Ohshima Y; Hiragi T; Sasahara Y; Suzuki Y; Kikuchi M; Osaka H; Ohya T; Ninomiya S; Fujikawa S; Akasaka M; Iwata N; Kawakita A; Funatsuka M; Shintaku H; Ohara O; Ichinose H; Heike T, Rheumatology (Oxford, England), 53(3):448 - 458, 2014年03月
  • A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study., Abe J; Nakamura K; Nishikomori R; Kato M; Mitsuiki N; Izawa K; Awaya T; Kawai T; Yasumi T; Toyoshima I; Hasegawa K; Ohshima Y; Hiragi T; Sasahara Y; Suzuki Y; Kikuchi M; Osaka H; Ohya T; Ninomiya S; Fujikawa S; Akasaka M; Iwata N; Kawakita A; Funatsuka M; Shintaku H; Ohara O; Ichinose H; Heike T, Rheumatology (Oxford, England), 53(3):448 - 458, 2014年03月
  • Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease, Aya Narita; Kentarou Shirai; Norika Kubota; Rumiko Takayama; Yukitoshi Takahashi; Takanori Onuki; Chikahiko Numakura; Mitsuhiro Kato; Yusuke Hamada; Norio Sakai; Atsuko Ohno; Maya Asami; Shoko Matsushita; Anri Hayashi; Tomohiro Kumada; Tatsuya Fujii; Asako Horino; Takeshi Inoue; Ichiro Kuki; Ken Asakawa; Hitoshi Ishikawa; Koyo Ohno; Yoko Nishimura; Akiko Tamasaki; Yoshihiro Maegaki; Kousaku Ohno, ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 1(2):135 - 140, 2014年02月
  • Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease, Aya Narita; Kentarou Shirai; Norika Kubota; Rumiko Takayama; Yukitoshi Takahashi; Takanori Onuki; Chikahiko Numakura; Mitsuhiro Kato; Yusuke Hamada; Norio Sakai; Atsuko Ohno; Maya Asami; Shoko Matsushita; Anri Hayashi; Tomohiro Kumada; Tatsuya Fujii; Asako Horino; Takeshi Inoue; Ichiro Kuki; Ken Asakawa; Hitoshi Ishikawa; Koyo Ohno; Yoko Nishimura; Akiko Tamasaki; Yoshihiro Maegaki; Kousaku Ohno, ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 1(2):135 - 140, 2014年02月
  • A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease, Norikatsu Hikita; Hideji Hattori; Mitsuhiro Kato; Satoru Sakuma; Yoshiki Morotomi; Hiroshi Ishida; Toshiyuki Seto; Katsuji Tanaka; Taro Shimono; Haruo Shintaku; Daisuke Tokuhara, BRAIN & DEVELOPMENT, 36(2):159 - 162, 2014年02月
  • A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease, Norikatsu Hikita; Hideji Hattori; Mitsuhiro Kato; Satoru Sakuma; Yoshiki Morotomi; Hiroshi Ishida; Toshiyuki Seto; Katsuji Tanaka; Taro Shimono; Haruo Shintaku; Daisuke Tokuhara, BRAIN & DEVELOPMENT, 36(2):159 - 162, 2014年02月
  • 重症心身障害児（者）を対象とした大脳性視覚障害重症度評価スケールの開発, 池田 歩; 境 信哉; 星有理香; 桜庭 聡; 吉田雅紀; 平元 東; 加藤光広; 八田達夫; 平山和美, 日本重症心身障害学会誌, 39(3):397 - 404, 2014年
  • 重症心身障害児（者）を対象とした大脳性視覚障害重症度評価スケールの開発, 池田 歩; 境 信哉; 星有理香; 桜庭 聡; 吉田雅紀; 平元 東; 加藤光広; 八田達夫; 平山和美, 日本重症心身障害学会誌, 39(3):397 - 404, 2014年
  • 国際小児神経学会/アフリカ小児神経学会共催の小児てんかんワークショップに参加して, 加藤 光広, 脳と発達, 46(1):47 - 47, 2014年
  • 国際小児神経学会/アフリカ小児神経学会共催の小児てんかんワークショップに参加して, 加藤 光広, 脳と発達, 46(1):47 - 47, 2014年
  • De Novo Mutations in SLC35A2 Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy, Hirofumi Kodera; Kazuyuki Nakamura; Hitoshi Osaka; Yoshihiro Maegaki; Kazuhiro Haginoya; Shuji Mizumoto; Mitsuhiro Kato; Nobuhiko Okamoto; Mizue Iai; Yukiko Kondo; Kiyomi Nishiyama; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Kiyoshi Hayasaka; Kazuyuki Sugahara; Isao Yuasa; Yoshinao Wada; Naomichi Matsumoto; Hirotomo Saitsu, HUMAN MUTATION, 34(12):1708 - 1714, 2013年12月
  • De Novo Mutations in SLC35A2 Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy, Hirofumi Kodera; Kazuyuki Nakamura; Hitoshi Osaka; Yoshihiro Maegaki; Kazuhiro Haginoya; Shuji Mizumoto; Mitsuhiro Kato; Nobuhiko Okamoto; Mizue Iai; Yukiko Kondo; Kiyomi Nishiyama; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Kiyoshi Hayasaka; Kazuyuki Sugahara; Isao Yuasa; Yoshinao Wada; Naomichi Matsumoto; Hirotomo Saitsu, HUMAN MUTATION, 34(12):1708 - 1714, 2013年12月
  • 重症先天性好中球減少症の経過中、5歳時急性脳症を契機に退院を認め神経発達障害が顕在化したHAX1を有する女児, 目黒 亨; 中村 和幸; 佐藤 裕子; 簡野 美弥子; 小野田 正志; 高橋 憲幸; 川上 貴子; 三井 哲夫; 加藤 光広; 早坂 清, 日本小児血液・がん学会学術集会・日本小児がん看護学会・公益財団法人がんの子どもを守る会公開シンポジウムプログラム総会号, 55回・11回・18回:236 - 236, 2013年11月
  • 重症先天性好中球減少症の経過中、5歳時急性脳症を契機に退院を認め神経発達障害が顕在化したHAX1を有する女児, 目黒 亨; 中村 和幸; 佐藤 裕子; 簡野 美弥子; 小野田 正志; 高橋 憲幸; 川上 貴子; 三井 哲夫; 加藤 光広; 早坂 清, 日本小児血液・がん学会学術集会・日本小児がん看護学会・公益財団法人がんの子どもを守る会公開シンポジウムプログラム総会号, 55回・11回・18回:236 - 236, 2013年11月
  • Epileptic encephalopathy associated with forced normalization after administration of levetiracetam, Takahiro Kikuchi; Mitsuhiro Kato; Nobuya Takahashi; Kazuyuki Nakamura; Kiyoshi Hayasaka, No To Hattatsu, 45(5):375 - 378, 2013年09月
  • Epileptic encephalopathy associated with forced normalization after administration of levetiracetam, Takahiro Kikuchi; Mitsuhiro Kato; Nobuya Takahashi; Kazuyuki Nakamura; Kiyoshi Hayasaka, No To Hattatsu, 45(5):375 - 378, 2013年09月
  • A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation, Aiko Igarashi; Masao Kawatani; Genrei Ohta; Hiroshi Kometani; Yusei Ohshima; Mitsuhiro Kato, No To Hattatsu, 45(5):371 - 374, 2013年09月
  • A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation, Aiko Igarashi; Masao Kawatani; Genrei Ohta; Hiroshi Kometani; Yusei Ohshima; Mitsuhiro Kato, No To Hattatsu, 45(5):371 - 374, 2013年09月
  • De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy., Nakamura K; Kodera H; Akita T; Shiina M; Kato M; Hoshino H; Terashima H; Osaka H; Nakamura S; Tohyama J; Kumada T; Furukawa T; Iwata S; Shiihara T; Kubota M; Miyatake S; Koshimizu E; Nishiyama K; Nakashima M; Tsurusaki Y; Miyake N; Hayasaka K; Ogata K; Fukuda A; Matsumoto N; Saitsu H, American journal of human genetics, 93(3):496 - 505, 2013年09月
  • De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy., Nakamura K; Kodera H; Akita T; Shiina M; Kato M; Hoshino H; Terashima H; Osaka H; Nakamura S; Tohyama J; Kumada T; Furukawa T; Iwata S; Shiihara T; Kubota M; Miyatake S; Koshimizu E; Nishiyama K; Nakashima M; Tsurusaki Y; Miyake N; Hayasaka K; Ogata K; Fukuda A; Matsumoto N; Saitsu H, American journal of human genetics, 93(3):496 - 505, 2013年09月
  • Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome, Kazuyuki Nakamura; Mitsuhiro Kato; Hitoshi Osaka; Sumimasa Yamashita; Eiji Nakagawa; Kazuhiro Haginoya; Jun Tohyama; Mitsuko Okuda; Takahito Wada; Shuichi Shimakawa; Katsumi Imai; Saoko Takeshita; Hisako Ishiwata; Dorit Lev; Tally Lerman-Sagie; David E. Cervantes-Barragan; Camilo E. Villarroel; Masaharu Ohfu; Karin Writzl; Barbara Gnidovec Strazisar; Shinichi Hirabayashi; David Chitayat; Diane Myles Reid; Kiyomi Nishiyama; Hirofumi Kodera; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Kiyoshi Hayasaka; Naomichi Matsumoto; Hirotomo Saitsu, NEUROLOGY, 81(11):992 - 998, 2013年09月
  • Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome, Kazuyuki Nakamura; Mitsuhiro Kato; Hitoshi Osaka; Sumimasa Yamashita; Eiji Nakagawa; Kazuhiro Haginoya; Jun Tohyama; Mitsuko Okuda; Takahito Wada; Shuichi Shimakawa; Katsumi Imai; Saoko Takeshita; Hisako Ishiwata; Dorit Lev; Tally Lerman-Sagie; David E. Cervantes-Barragan; Camilo E. Villarroel; Masaharu Ohfu; Karin Writzl; Barbara Gnidovec Strazisar; Shinichi Hirabayashi; David Chitayat; Diane Myles Reid; Kiyomi Nishiyama; Hirofumi Kodera; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Kiyoshi Hayasaka; Naomichi Matsumoto; Hirotomo Saitsu, NEUROLOGY, 81(11):992 - 998, 2013年09月
  • MLL2 and KDM6A Mutations in Patients With Kabuki Syndrome, Noriko Miyake; Eriko Koshimizu; Nobuhiko Okamoto; Seiji Mizuno; Tsutomu Ogata; Toshiro Nagai; Tomoki Kosho; Hirofumi Ohashi; Mitsuhiro Kato; Goro Sasaki; Hiroyo Mabe; Yoriko Watanabe; Makoto Yoshino; Toyojiro Matsuishi; Jun-ichi Takanashi; Vorasuk Shotelersuk; Mustafa Tekin; Nobuhiko Ochi; Masaya Kubota; Naoko Ito; Kenji Ihara; Toshiro Hara; Hidefumi Tonoki; Tohru Ohta; Kayoko Saito; Mari Matsuo; Mari Urano; Takashi Enokizono; Astushi Sato; Hiroyuki Tanaka; Atsushi Ogawa; Takako Fujita; Yoko Hiraki; Sachiko Kitanaka; Yoichi Matsubara; Toshio Makita; Masataka Taguri; Mitsuko Nakashima; Yoshinori Tsurusaki; Hirotomo Saitsu; Ko-ichiro Yoshiura; Naomichi Matsumoto; Norio Niikawa, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 161(9):2234 - 2243, 2013年09月
  • MLL2 and KDM6A Mutations in Patients With Kabuki Syndrome, Noriko Miyake; Eriko Koshimizu; Nobuhiko Okamoto; Seiji Mizuno; Tsutomu Ogata; Toshiro Nagai; Tomoki Kosho; Hirofumi Ohashi; Mitsuhiro Kato; Goro Sasaki; Hiroyo Mabe; Yoriko Watanabe; Makoto Yoshino; Toyojiro Matsuishi; Jun-ichi Takanashi; Vorasuk Shotelersuk; Mustafa Tekin; Nobuhiko Ochi; Masaya Kubota; Naoko Ito; Kenji Ihara; Toshiro Hara; Hidefumi Tonoki; Tohru Ohta; Kayoko Saito; Mari Matsuo; Mari Urano; Takashi Enokizono; Astushi Sato; Hiroyuki Tanaka; Atsushi Ogawa; Takako Fujita; Yoko Hiraki; Sachiko Kitanaka; Yoichi Matsubara; Toshio Makita; Masataka Taguri; Mitsuko Nakashima; Yoshinori Tsurusaki; Hirotomo Saitsu; Ko-ichiro Yoshiura; Naomichi Matsumoto; Norio Niikawa, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 161(9):2234 - 2243, 2013年09月
  • PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy, Norimichi Higurashi; Mai Nakamura; Misaki Sugai; Masaharu Ohfu; Masako Sakauchi; Yuji Sugawara; Kazuyuki Nakamura; Mitsuhiro Kato; Daisuke Usui; Yukiko Mogami; Yumi Fujiwara; Tomoshiro Ito; Hiroko Ikeda; Katsumi Imai; Yukitoshi Takahashi; Megumi Nukui; Takeshi Inoue; Shin Okazaki; Tomoko Kirino; Yuko Tomonoh; Takahito Inoue; Kyoko Takano; Shuichi Shimakawa; Shinichi Hirose, EPILEPSY RESEARCH, 106(1-2):191 - 199, 2013年09月
  • PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy, Norimichi Higurashi; Mai Nakamura; Misaki Sugai; Masaharu Ohfu; Masako Sakauchi; Yuji Sugawara; Kazuyuki Nakamura; Mitsuhiro Kato; Daisuke Usui; Yukiko Mogami; Yumi Fujiwara; Tomoshiro Ito; Hiroko Ikeda; Katsumi Imai; Yukitoshi Takahashi; Megumi Nukui; Takeshi Inoue; Shin Okazaki; Tomoko Kirino; Yuko Tomonoh; Takahito Inoue; Kyoko Takano; Shuichi Shimakawa; Shinichi Hirose, EPILEPSY RESEARCH, 106(1-2):191 - 199, 2013年09月
  • PCDH19-related Female-Limited Epilepsy—Independent Clinical Entity and Differences fr, Norimichi Higurashi; Mai Nakamura; Masaharu Ohfu; Masako Sakauchi; Yuji Sugawara; Mitsuhiro Kato; Daisuke Usui; Yukiko Mogami; Yumi Fujiwara, Tomo, Epilepsy Research, 2013年09月
  • PCDH19-related Female-Limited Epilepsy—Independent Clinical Entity and Differences fr, Norimichi Higurashi; Mai Nakamura; Masaharu Ohfu; Masako Sakauchi; Yuji Sugawara; Mitsuhiro Kato; Daisuke Usui; Yukiko Mogami; Yumi Fujiwara, Tomo, Epilepsy Research, 2013年09月
  • KCNQ2遺伝子変異を認めたWest症候群の一例, 平田 佑子; 浜野 晋一郎; 加藤 光広; 和田 靖之; 久保 政勝; 井田 博幸, てんかん研究, 31(2):470 - 470, 2013年09月
  • KCNQ2遺伝子変異を認めたWest症候群の一例, 平田 佑子; 浜野 晋一郎; 加藤 光広; 和田 靖之; 久保 政勝; 井田 博幸, てんかん研究, 31(2):470 - 470, 2013年09月
  • Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy, Hirofumi Kodera; Mitsuhiro Kato; Alex S. Nord; Tom Walsh; Ming Lee; Gaku Yamanaka; Jun Tohyama; Kazuyuki Nakamura; Eiji Nakagawa; Tae Ikeda; Bruria Ben-Zeev; Dorit Lev; Tally Lerman-Sagie; Rachel Straussberg; Saori Tanabe; Kazutoshi Ueda; Masano Amamoto; Sayaka Ohta; Yutaka Nonoda; Kiyomi Nishiyama; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Kiyoshi Hayasaka; Mary-Claire King; Naomichi Matsumoto; Hirotomo Saitsu, EPILEPSIA, 54(7):1262 - 1269, 2013年07月
  • Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy, Hirofumi Kodera; Mitsuhiro Kato; Alex S. Nord; Tom Walsh; Ming Lee; Gaku Yamanaka; Jun Tohyama; Kazuyuki Nakamura; Eiji Nakagawa; Tae Ikeda; Bruria Ben-Zeev; Dorit Lev; Tally Lerman-Sagie; Rachel Straussberg; Saori Tanabe; Kazutoshi Ueda; Masano Amamoto; Sayaka Ohta; Yutaka Nonoda; Kiyomi Nishiyama; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Kiyoshi Hayasaka; Mary-Claire King; Naomichi Matsumoto; Hirotomo Saitsu, EPILEPSIA, 54(7):1262 - 1269, 2013年07月
  • Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation, Mitsuhiro Kato; Takanori Yamagata; Masaya Kubota; Hiroshi Arai; Sumimasa Yamashita; Taku Nakagawa; Takanari Fujii; Kenji Sugai; Kaoru Imai; Tami Uster; David Chitayat; Shelly Weiss; Hirofumi Kashii; Ryosuke Kusano; Ayumi Matsumoto; Kazuyuki Nakamura; Yoshinobu Oyazato; Mari Maeno; Kiyomi Nishiyama; Hirofumi Kodera; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Kayoko Saito; Kiyoshi Hayasaka; Naomichi Matsumoto; Hirotomo Saitsu, EPILEPSIA, 54(7):1282 - 1287, 2013年07月
  • Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation, Mitsuhiro Kato; Takanori Yamagata; Masaya Kubota; Hiroshi Arai; Sumimasa Yamashita; Taku Nakagawa; Takanari Fujii; Kenji Sugai; Kaoru Imai; Tami Uster; David Chitayat; Shelly Weiss; Hirofumi Kashii; Ryosuke Kusano; Ayumi Matsumoto; Kazuyuki Nakamura; Yoshinobu Oyazato; Mari Maeno; Kiyomi Nishiyama; Hirofumi Kodera; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Kayoko Saito; Kiyoshi Hayasaka; Naomichi Matsumoto; Hirotomo Saitsu, EPILEPSIA, 54(7):1282 - 1287, 2013年07月
  • 新生児におけるhyperekplexiaの1例, 菊池 貴洋; 加藤 光広; 中村 和幸; 高橋 信也; 高橋 辰徳; 白幡 惠美; 清和 ちづる; 伊東 愛子; 赤羽 和博; 竹谷 健; 早坂 清, 脳と発達, 45(3):245 - 246, 2013年05月
  • 新生児におけるhyperekplexiaの1例, 菊池 貴洋; 加藤 光広; 中村 和幸; 高橋 信也; 高橋 辰徳; 白幡 惠美; 清和 ちづる; 伊東 愛子; 赤羽 和博; 竹谷 健; 早坂 清, 脳と発達, 45(3):245 - 246, 2013年05月
  • De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood, Hirotomo Saitsu; Taki Nishimura; Kazuhiro Muramatsu; Hirofumi Kodera; Satoko Kumada; Kenji Sugai; Emi Kasai-Yoshida; Noriko Sawaura; Hiroya Nishida; Ai Hoshino; Fukiko Ryujin; Seiichiro Yoshioka; Kiyomi Nishiyama; Yukiko Kondo; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Hirokazu Arakawa; Mitsuhiro Kato; Noboru Mizushima; Naomichi Matsumoto, NATURE GENETICS, 45(4):445 - 449, 2013年04月
  • De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood, Hirotomo Saitsu; Taki Nishimura; Kazuhiro Muramatsu; Hirofumi Kodera; Satoko Kumada; Kenji Sugai; Emi Kasai-Yoshida; Noriko Sawaura; Hiroya Nishida; Ai Hoshino; Fukiko Ryujin; Seiichiro Yoshioka; Kiyomi Nishiyama; Yukiko Kondo; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Hirokazu Arakawa; Mitsuhiro Kato; Noboru Mizushima; Naomichi Matsumoto, NATURE GENETICS, 45(4):445 - 449, 2013年04月
  • Brain malformations and genetic factors, Mitsuhiro Kato, Japanese Journal of Neurosurgery, 22(4):252 - 255, 2013年04月
  • Brain malformations and genetic factors, Mitsuhiro Kato, Japanese Journal of Neurosurgery, 22(4):252 - 255, 2013年04月
  • Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly, Yuriko Yoneda; Kazuhiro Haginoya; Mitsuhiro Kato; Hitoshi Osaka; Kenji Yokochi; Hiroshi Arai; Akiyoshi Kakita; Takamichi Yamamoto; Yoshiro Otsuki; Shin-ichi Shimizu; Takahito Wada; Norihisa Koyama; Yoichi Mino; Noriko Kondo; Satoru Takahashi; Shinichi Hirabayashi; Jun-ichi Takanashi; Akihisa Okumura; Toshiyuki Kumagai; Satori Hirai; Makoto Nabetani; Shinji Saitoh; Ayako Hattori; Mami Yamasaki; Akira Kumakura; Yoshinobu Sugo; Kiyomi Nishiyama; Satoko Miyatake; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Naomichi Matsumoto; Hirotomo Saitsu, ANNALS OF NEUROLOGY, 73(1):48 - 57, 2013年01月
  • Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly, Yuriko Yoneda; Kazuhiro Haginoya; Mitsuhiro Kato; Hitoshi Osaka; Kenji Yokochi; Hiroshi Arai; Akiyoshi Kakita; Takamichi Yamamoto; Yoshiro Otsuki; Shin-ichi Shimizu; Takahito Wada; Norihisa Koyama; Yoichi Mino; Noriko Kondo; Satoru Takahashi; Shinichi Hirabayashi; Jun-ichi Takanashi; Akihisa Okumura; Toshiyuki Kumagai; Satori Hirai; Makoto Nabetani; Shinji Saitoh; Ayako Hattori; Mami Yamasaki; Akira Kumakura; Yoshinobu Sugo; Kiyomi Nishiyama; Satoko Miyatake; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Naomichi Matsumoto; Hirotomo Saitsu, ANNALS OF NEUROLOGY, 73(1):48 - 57, 2013年01月
  • Levetiracetamが著効したSTXBP1遺伝子変異による大田原症候群の1例, 山下 哲史; 千代延 友裕; 吉田 路子; 諸戸 雅治; 森田 高史; 森岡 茂己; 加藤 光広; 才津 浩智; 森本 昌史; 細井 創, 脳と発達, 45(1):64 - 66, 2013年01月
  • Levetiracetamが著効したSTXBP1遺伝子変異による大田原症候群の1例, 山下 哲史; 千代延 友裕; 吉田 路子; 諸戸 雅治; 森田 高史; 森岡 茂己; 加藤 光広; 才津 浩智; 森本 昌史; 細井 創, 脳と発達, 45(1):64 - 66, 2013年01月
  • Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature, Tomoki Kosho; Nobuhiko Okamoto; Hirofumi Ohashi; Yoshinori Tsurusaki; Yoko Imai; Yumiko Hibi-Ko; Hiroshi Kawame; Tomomi Homma; Saori Tanabe; Mitsuhiro Kato; Yoko Hiraki; Takanori Yamagata; Shoji Yano; Satoru Sakazume; Takuma Ishii; Toshiro Nagai; Tohru Ohta; Norio Niikawa; Seiji Mizuno; Tadashi Kaname; Kenji Naritomi; Yoko Narumi; Keiko Wakui; Yoshimitsu Fukushima; Satoko Miyatake; Takeshi Mizuguchi; Hirotomo Saitsu; Noriko Miyake; Naomichi Matsumoto, American Journal of Medical Genetics, Part A, 161(6):1221 - 1237, 2013年
  • Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature, Tomoki Kosho; Nobuhiko Okamoto; Hirofumi Ohashi; Yoshinori Tsurusaki; Yoko Imai; Yumiko Hibi-Ko; Hiroshi Kawame; Tomomi Homma; Saori Tanabe; Mitsuhiro Kato; Yoko Hiraki; Takanori Yamagata; Shoji Yano; Satoru Sakazume; Takuma Ishii; Toshiro Nagai; Tohru Ohta; Norio Niikawa; Seiji Mizuno; Tadashi Kaname; Kenji Naritomi; Yoko Narumi; Keiko Wakui; Yoshimitsu Fukushima; Satoko Miyatake; Takeshi Mizuguchi; Hirotomo Saitsu; Noriko Miyake; Naomichi Matsumoto, American Journal of Medical Genetics, Part A, 161(6):1221 - 1237, 2013年
  • Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly., Shiori Toba; Yasuhisa Tamura; Kanako Kumamoto; Masami Yamada; Keizo Takao; Satoko Hattori; Tsuyoshi Miyakawa; Yosky Kataoka; Mitsuyoshi Azuma; Kiyoshi Hayasaka; Masano Amamoto; Keiko Tominaga; Anthony Wynshaw-Boris; Hideki Wanibuchi; Yuichiro Oka; Makoto Sato; Mitsuhiro Kato; Shinji Hirotsune, Scientific reports, 3:1224 - 1224, 2013年
  • Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly., Shiori Toba; Yasuhisa Tamura; Kanako Kumamoto; Masami Yamada; Keizo Takao; Satoko Hattori; Tsuyoshi Miyakawa; Yosky Kataoka; Mitsuyoshi Azuma; Kiyoshi Hayasaka; Masano Amamoto; Keiko Tominaga; Anthony Wynshaw-Boris; Hideki Wanibuchi; Yuichiro Oka; Makoto Sato; Mitsuhiro Kato; Shinji Hirotsune, Scientific reports, 3:1224 - 1224, 2013年
  • Questionnaire survey conducted on the parents of patients with spinal muscular atrophy type 1 in Japan regarding switch devices, language development, upper extremity function and QOL, Shinya Sakai; Makoto Maki; Naoko Sakai; Akira Sudoh; Mitsuhiro Kato; Shinji Saitoh, No To Hattatsu, 44(6):465 - 471, 2012年11月
  • Questionnaire survey conducted on the parents of patients with spinal muscular atrophy type 1 in Japan regarding switch devices, language development, upper extremity function and QOL, Shinya Sakai; Makoto Maki; Naoko Sakai; Akira Sudoh; Mitsuhiro Kato; Shinji Saitoh, No To Hattatsu, 44(6):465 - 471, 2012年11月
  • Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy, Kazuyuki Nakamura; Mitsuhiro Kato; Ayako Sasaki; Takashi Shiihara; Kiyoshi Hayasaka, PEDIATRICS INTERNATIONAL, 54(5):709 - 711, 2012年10月
  • Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy, Kazuyuki Nakamura; Mitsuhiro Kato; Ayako Sasaki; Takashi Shiihara; Kiyoshi Hayasaka, PEDIATRICS INTERNATIONAL, 54(5):709 - 711, 2012年10月
  • Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome, Hirotomo Saitsu; Mitsuhiro Kato; Ayaka Koide; Tomohide Goto; Takako Fujita; Kiyomi Nishiyama; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Kiyoshi Hayasaka; Naomichi Matsumoto, ANNALS OF NEUROLOGY, 72(2):298 - 300, 2012年08月
  • Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome, Hirotomo Saitsu; Mitsuhiro Kato; Ayaka Koide; Tomohide Goto; Takako Fujita; Kiyomi Nishiyama; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Kiyoshi Hayasaka; Naomichi Matsumoto, ANNALS OF NEUROLOGY, 72(2):298 - 300, 2012年08月
  • CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia, Hirotomo Saitsu; Mitsuhiro Kato; Hitoshi Osaka; Nobuko Moriyama; Hideki Horita; Kiyomi Nishiyama; Yuriko Yoneda; Yukiko Kondo; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Kiyoshi Hayasaka; Naomichi Matsumoto, EPILEPSIA, 53(8):1441 - 1449, 2012年08月
  • CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia, Hirotomo Saitsu; Mitsuhiro Kato; Hitoshi Osaka; Nobuko Moriyama; Hideki Horita; Kiyomi Nishiyama; Yuriko Yoneda; Yukiko Kondo; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Kiyoshi Hayasaka; Naomichi Matsumoto, EPILEPSIA, 53(8):1441 - 1449, 2012年08月
  • The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints, Shozo Honda; Shin Hayashi; Takaya Nakane; Issei Imoto; Kenji Kurosawa; Seiji Mizuno; Nobuhiko Okamoto; Mitsuhiro Kato; Hiroshi Yoshihashi; Takeo Kubota; Eiji Nakagawa; Yu-ichi Goto; Johji Inazawa, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(6):1292 - 1303, 2012年06月
  • The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints, Shozo Honda; Shin Hayashi; Takaya Nakane; Issei Imoto; Kenji Kurosawa; Seiji Mizuno; Nobuhiko Okamoto; Mitsuhiro Kato; Hiroshi Yoshihashi; Takeo Kubota; Eiji Nakagawa; Yu-ichi Goto; Johji Inazawa, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(6):1292 - 1303, 2012年06月
  • PCDH 19変異による難治性部分てんかんの1女児例, 中村 和幸; 菊池 貴洋; 加藤 光広; 早坂 清; 椎原 隆; 日暮 憲道; 廣瀬 伸一, てんかん研究, 30(1):81 - 81, 2012年06月
  • PCDH 19変異による難治性部分てんかんの1女児例, 中村 和幸; 菊池 貴洋; 加藤 光広; 早坂 清; 椎原 隆; 日暮 憲道; 廣瀬 伸一, てんかん研究, 30(1):81 - 81, 2012年06月
  • 自傷行為を繰り返す多発性多小脳回と片側性脳梁体部欠損の男児例, 瀬戸 俊之; 加藤 光広; 三木 幸雄; 植松 貢; 新宅 治夫, 脳と発達, 44(Suppl.):S254 - S254, 2012年05月
  • 自傷行為を繰り返す多発性多小脳回と片側性脳梁体部欠損の男児例, 瀬戸 俊之; 加藤 光広; 三木 幸雄; 植松 貢; 新宅 治夫, 脳と発達, 44(Suppl.):S254 - S254, 2012年05月
  • Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome, Yoshinori Tsurusaki; Nobuhiko Okamoto; Hirofumi Ohashi; Tomoki Kosho; Yoko Imai; Yumiko Hibi-Ko; Tadashi Kaname; Kenji Naritomi; Hiroshi Kawame; Keiko Wakui; Yoshimitsu Fukushima; Tomomi Homma; Mitsuhiro Kato; Yoko Hiraki; Takanori Yamagata; Shoji Yano; Seiji Mizuno; Satoru Sakazume; Takuma Ishii; Toshiro Nagai; Masaaki Shiina; Kazuhiro Ogata; Tohru Ohta; Norio Niikawa; Satoko Miyatake; Ippei Okada; Takeshi Mizuguchi; Hiroshi Doi; Hirotomo Saitsu; Noriko Miyake; Naomichi Matsumoto, NATURE GENETICS, 44(4):376 - 378, 2012年04月
  • Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome, Yoshinori Tsurusaki; Nobuhiko Okamoto; Hirofumi Ohashi; Tomoki Kosho; Yoko Imai; Yumiko Hibi-Ko; Tadashi Kaname; Kenji Naritomi; Hiroshi Kawame; Keiko Wakui; Yoshimitsu Fukushima; Tomomi Homma; Mitsuhiro Kato; Yoko Hiraki; Takanori Yamagata; Shoji Yano; Seiji Mizuno; Satoru Sakazume; Takuma Ishii; Toshiro Nagai; Masaaki Shiina; Kazuhiro Ogata; Tohru Ohta; Norio Niikawa; Satoko Miyatake; Ippei Okada; Takeshi Mizuguchi; Hiroshi Doi; Hirotomo Saitsu; Noriko Miyake; Naomichi Matsumoto, NATURE GENETICS, 44(4):376 - 378, 2012年04月
  • Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome, H. Saitsu; M. Kato; M. Shimono; A. Senju; S. Tanabe; T. Kimura; K. Nishiyama; Y. Yoneda; Y. Kondo; Y. Tsurusaki; H. Doi; N. Miyake; K. Hayasaka; N. Matsumoto, CLINICAL GENETICS, 81(4):399 - 402, 2012年04月
  • Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome, H. Saitsu; M. Kato; M. Shimono; A. Senju; S. Tanabe; T. Kimura; K. Nishiyama; Y. Yoneda; Y. Kondo; Y. Tsurusaki; H. Doi; N. Miyake; K. Hayasaka; N. Matsumoto, CLINICAL GENETICS, 81(4):399 - 402, 2012年04月
  • Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl, Rie Tsuburaya; Mitsugu Uematsu; Atsuo Kikuchi; Naomi Hino-Fukuyo; Shinji Kunishima; Mitsuhiro Kato; Kazuhiro Haginoya; Shigeru Tsuchiya, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(3):674 - 677, 2012年03月
  • Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl, Rie Tsuburaya; Mitsugu Uematsu; Atsuo Kikuchi; Naomi Hino-Fukuyo; Shinji Kunishima; Mitsuhiro Kato; Kazuhiro Haginoya; Shigeru Tsuchiya, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(3):674 - 677, 2012年03月
  • Congenital Dysplastic Microcephaly and Hypoplasia of the Brainstem and Cerebellum With Diffuse Intracranial Calcification, Kazuyuki Nakamura; Mitsuhiro Kato; Ayako Sasaki; Masayo Kanai; Kiyoshi Hayasaka, JOURNAL OF CHILD NEUROLOGY, 27(2):218 - 221, 2012年02月
  • Congenital Dysplastic Microcephaly and Hypoplasia of the Brainstem and Cerebellum With Diffuse Intracranial Calcification, Kazuyuki Nakamura; Mitsuhiro Kato; Ayako Sasaki; Masayo Kanai; Kiyoshi Hayasaka, JOURNAL OF CHILD NEUROLOGY, 27(2):218 - 221, 2012年02月
  • De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly., Yoneda Y; Haginoya K; Arai H; Yamaoka S; Tsurusaki Y; Doi H; Miyake N; Yokochi K; Osaka H; Kato M; Matsumoto N; Saitsu H, American journal of human genetics, 90(1):86 - 90, 2012年01月
  • De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly., Yoneda Y; Haginoya K; Arai H; Yamaoka S; Tsurusaki Y; Doi H; Miyake N; Yokochi K; Osaka H; Kato M; Matsumoto N; Saitsu H, American journal of human genetics, 90(1):86 - 90, 2012年01月
  • Early Infantile Epileptic Encephalopathy Associated With the Disrupted Gene Encoding Slit-Robo Rho GTPase Activating Protein 2 (SRGAP2), Hirotomo Saitsu; Hitoshi Osaka; Shirou Sugiyama; Kenji Kurosawa; Takeshi Mizuguchi; Kiyomi Nishiyama; Akira Nishimura; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Naoki Harada; Mitsuhiro Kato; Naomichi Matsumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(1):199 - 205, 2012年01月
  • Early Infantile Epileptic Encephalopathy Associated With the Disrupted Gene Encoding Slit-Robo Rho GTPase Activating Protein 2 (SRGAP2), Hirotomo Saitsu; Hitoshi Osaka; Shirou Sugiyama; Kenji Kurosawa; Takeshi Mizuguchi; Kiyomi Nishiyama; Akira Nishimura; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Naoki Harada; Mitsuhiro Kato; Naomichi Matsumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(1):199 - 205, 2012年01月
  • Haploinsufficiency of STXBP1 and Ohtahara syndrome, Saitsu H; Kato M; Matsumoto N; Noebels JL; Avoli M; Rogawski MA; Olsen RW; Delgado-Escueta AV, 2012年
  • Haploinsufficiency of STXBP1 and Ohtahara syndrome, Saitsu H; Kato M; Matsumoto N; Noebels JL; Avoli M; Rogawski MA; Olsen RW; Delgado-Escueta AV, 2012年
  • De Novo 5q14.3 Translocation 121.5-kb Upstream of MEF2C in a Patient With Severe Intellectual Disability and Early-Onset Epileptic Encephalopathy, Hirotomo Saitsu; Noboru Igarashi; Mitsuhiro Kato; Ippei Okada; Tomoki Kosho; Osamu Shimokawa; Yuki Sasaki; Kiyomi Nishiyama; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Naoki Harada; Kiyoshi Hayasaka; Naomichi Matasumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(11):2879 - 2884, 2011年11月
  • De Novo 5q14.3 Translocation 121.5-kb Upstream of MEF2C in a Patient With Severe Intellectual Disability and Early-Onset Epileptic Encephalopathy, Hirotomo Saitsu; Noboru Igarashi; Mitsuhiro Kato; Ippei Okada; Tomoki Kosho; Osamu Shimokawa; Yuki Sasaki; Kiyomi Nishiyama; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Naoki Harada; Kiyoshi Hayasaka; Naomichi Matasumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(11):2879 - 2884, 2011年11月
  • Paternal mosaicism of an STXBP1 mutation in OS, H. Saitsu; H. Hoshino; M. Kato; K. Nishiyama; I. Okada; Y. Yoneda; Y. Tsurusaki; H. Doi; N. Miyake; M. Kubota; K. Hayasaka; N. Matsumoto, CLINICAL GENETICS, 80(5):484 - 488, 2011年11月
  • Paternal mosaicism of an STXBP1 mutation in OS, H. Saitsu; H. Hoshino; M. Kato; K. Nishiyama; I. Okada; Y. Yoneda; Y. Tsurusaki; H. Doi; N. Miyake; M. Kubota; K. Hayasaka; N. Matsumoto, CLINICAL GENETICS, 80(5):484 - 488, 2011年11月
  • ARX遺伝子ポリアラニン伸展変異によるX連鎖性West症候群と、その自然寛解が疑われる同胞例, 平田 佑子; 浜野 晋一郎; 松浦 隆樹; 日暮 憲道; 加藤 光広; 井田 博幸, てんかん研究, 29(2):357 - 357, 2011年09月
  • ARX遺伝子ポリアラニン伸展変異によるX連鎖性West症候群と、その自然寛解が疑われる同胞例, 平田 佑子; 浜野 晋一郎; 松浦 隆樹; 日暮 憲道; 加藤 光広; 井田 博幸, てんかん研究, 29(2):357 - 357, 2011年09月
  • アレイ解析で確定診断されたRett症候群の1例, 安孫子 優; 高橋 辰徳; 笹 真一; 田邉 さおり; 木村 敏之; 才津 浩智; 松本 直通; 加藤 光広, 日本小児科学会雑誌, 115(9):1472 - 1472, 2011年09月
  • アレイ解析で確定診断されたRett症候群の1例, 安孫子 優; 高橋 辰徳; 笹 真一; 田邉 さおり; 木村 敏之; 才津 浩智; 松本 直通; 加藤 光広, 日本小児科学会雑誌, 115(9):1472 - 1472, 2011年09月
  • Inflammatory changes in infantile-onset LMNA-associated myopathy, Hirofumi Komaki; Yukiko K. Hayashi; Rie Tsuburaya; Kazuma Sugie; Mitsuhiro Kato; Toshiro Nagai; George Imataka; Shuhei Suzuki; Shinji Saitoh; Naoko Asahina; Kazuya Honke; Yoshihisa Higuchi; Hiroshi Sakuma; Yoshiaki Saito; Eiji Nakagawa; Kenji Sugai; Masayuki Sasaki; Ikuya Nonaka; Ichizo Nishino, NEUROMUSCULAR DISORDERS, 21(8):563 - 568, 2011年08月
  • Inflammatory changes in infantile-onset LMNA-associated myopathy, Hirofumi Komaki; Yukiko K. Hayashi; Rie Tsuburaya; Kazuma Sugie; Mitsuhiro Kato; Toshiro Nagai; George Imataka; Shuhei Suzuki; Shinji Saitoh; Naoko Asahina; Kazuya Honke; Yoshihisa Higuchi; Hiroshi Sakuma; Yoshiaki Saito; Eiji Nakagawa; Kenji Sugai; Masayuki Sasaki; Ikuya Nonaka; Ichizo Nishino, NEUROMUSCULAR DISORDERS, 21(8):563 - 568, 2011年08月
  • ヒョレア様の不随意運動をともなうWest症候群症例, 遠山 潤; 赤坂 紀幸; 大橋 伯; 小林 悠; 齋藤 なか; 熊田 聡子; 中川 栄二; 加藤 光広, 脳と発達, 43(Suppl.):S234 - S234, 2011年05月
  • ヒョレア様の不随意運動をともなうWest症候群症例, 遠山 潤; 赤坂 紀幸; 大橋 伯; 小林 悠; 齋藤 なか; 熊田 聡子; 中川 栄二; 加藤 光広, 脳と発達, 43(Suppl.):S234 - S234, 2011年05月
  • STXBP1遺伝子異常を認めた乳児期早期発症のてんかん性脳症3症例の臨床的検討, 柏井 洋文; 寺嶋 宙; 太田 さやか; 星野 英紀; 久保田 雅也; 加藤 光広; 才津 浩智, 脳と発達, 43(Suppl.):S320 - S320, 2011年05月
  • STXBP1遺伝子異常を認めた乳児期早期発症のてんかん性脳症3症例の臨床的検討, 柏井 洋文; 寺嶋 宙; 太田 さやか; 星野 英紀; 久保田 雅也; 加藤 光広; 才津 浩智, 脳と発達, 43(Suppl.):S320 - S320, 2011年05月
  • DCX遺伝子変異と認めた皮質下帯状異所性灰白質症の男児例, 五十嵐 愛子; 川谷 正男; 中井 昭夫; 大嶋 勇成; 加藤 光広, 脳と発達, 43(Suppl.):S357 - S357, 2011年05月
  • DCX遺伝子変異と認めた皮質下帯状異所性灰白質症の男児例, 五十嵐 愛子; 川谷 正男; 中井 昭夫; 大嶋 勇成; 加藤 光広, 脳と発達, 43(Suppl.):S357 - S357, 2011年05月
  • Going BAC or oligo microarray to the well: A commentary on Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies, Mitsuhiro Kato, JOURNAL OF HUMAN GENETICS, 56(2):104 - 105, 2011年02月
  • Going BAC or oligo microarray to the well: A commentary on Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies, Mitsuhiro Kato, JOURNAL OF HUMAN GENETICS, 56(2):104 - 105, 2011年02月
  • PB大量療法とACTHが有効であったSTXBP1変異による年齢依存性てんかん性脳症の1例, 田邉 さおり; 加藤 光広; 中村 和幸; 高橋 辰徳; 笹 真一; 木村 敏之; 才津 浩智; 松本 直通; 早坂 清, 日本小児科学会雑誌, 115(2):418 - 418, 2011年02月
  • PB大量療法とACTHが有効であったSTXBP1変異による年齢依存性てんかん性脳症の1例, 田邉 さおり; 加藤 光広; 中村 和幸; 高橋 辰徳; 笹 真一; 木村 敏之; 才津 浩智; 松本 直通; 早坂 清, 日本小児科学会雑誌, 115(2):418 - 418, 2011年02月
  • Dandy-Walker Malformation Associated With Heterozygous ZIC1 and ZIC4 Deletion: Report of a New Patient, Jun Tohyama; Mitsuhiro Kato; Sari Kawasaki; Naoki Harada; Hiroki Kawara; Takeshi Matsui; Noriyuki Akasaka; Tsukasa Ohashi; Yu Kobayashi; Naomichi Matsumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(1):130 - 133, 2011年01月
  • Dandy-Walker Malformation Associated With Heterozygous ZIC1 and ZIC4 Deletion: Report of a New Patient, Jun Tohyama; Mitsuhiro Kato; Sari Kawasaki; Naoki Harada; Hiroki Kawara; Takeshi Matsui; Noriyuki Akasaka; Tsukasa Ohashi; Yu Kobayashi; Naomichi Matsumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(1):130 - 133, 2011年01月
  • Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space, M. Hirose; K. Haginoya; H. Yokoyama; A. Kikuchi; N. Hino-Fukuyo; M. Munakata; M. Uematsu; K. Iinuma; M. Kato; T. Yamamoto; S. Tsuchiya, Neuropediatrics, 42(4):163 - 166, 2011年
  • Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space, M. Hirose; K. Haginoya; H. Yokoyama; A. Kikuchi; N. Hino-Fukuyo; M. Munakata; M. Uematsu; K. Iinuma; M. Kato; T. Yamamoto; S. Tsuchiya, Neuropediatrics, 42(4):163 - 166, 2011年
  • STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern, Hirotomo Saitsu; Mitsuhiro Kato; Ippei Okada; Kenji E. Orii; Tsukasa Higuchi; Hideki Hoshino; Masaya Kubota; Hiroshi Arai; Tetsuzo Tagawa; Shigeru Kimura; Akira Sudo; Sahoko Miyama; Yuichi Takami; Toshihide Watanabe; Akira Nishimura; Kiyomi Nishiyama; Noriko Miyake; Takahito Wada; Hitoshi Osaka; Naomi Kondo; Kiyoshi Hayasaka; Naomichi Matsumoto, EPILEPSIA, 51(12):2397 - 2405, 2010年12月
  • STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern, Hirotomo Saitsu; Mitsuhiro Kato; Ippei Okada; Kenji E. Orii; Tsukasa Higuchi; Hideki Hoshino; Masaya Kubota; Hiroshi Arai; Tetsuzo Tagawa; Shigeru Kimura; Akira Sudo; Sahoko Miyama; Yuichi Takami; Toshihide Watanabe; Akira Nishimura; Kiyomi Nishiyama; Noriko Miyake; Takahito Wada; Hitoshi Osaka; Naomi Kondo; Kiyoshi Hayasaka; Naomichi Matsumoto, EPILEPSIA, 51(12):2397 - 2405, 2010年12月
  • Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1, Akiko Abe; Kazuyuki Nakamura; Mitsuhiro Kato; Chikahiko Numakura; Tomomi Honma; Chizuru Seiwa; Emi Shirahata; Aiko Itoh; Yumiko Kishikawa; Kiyoshi Hayasaka, JOURNAL OF HUMAN GENETICS, 55(11):771 - 773, 2010年11月
  • Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1, Akiko Abe; Kazuyuki Nakamura; Mitsuhiro Kato; Chikahiko Numakura; Tomomi Honma; Chizuru Seiwa; Emi Shirahata; Aiko Itoh; Yumiko Kishikawa; Kiyoshi Hayasaka, JOURNAL OF HUMAN GENETICS, 55(11):771 - 773, 2010年11月
  • Choreo-Ballistic Movements in a Case Carrying a Missense Mutation in Syntaxin Binding Protein 1 Gene, Kyoko Kanazawa; Satoko Kumada; Mitsuhiro Kato; Hirotomo Saitsu; Eiji Kurihara; Naomichi Matsumoto, MOVEMENT DISORDERS, 25(13):2265 - 2267, 2010年10月
  • Choreo-Ballistic Movements in a Case Carrying a Missense Mutation in Syntaxin Binding Protein 1 Gene, Kyoko Kanazawa; Satoko Kumada; Mitsuhiro Kato; Hirotomo Saitsu; Eiji Kurihara; Naomichi Matsumoto, MOVEMENT DISORDERS, 25(13):2265 - 2267, 2010年10月
  • Supernumerary Impacted Teeth in a Patient With SOX2 Anophthalmia Syndrome, Chikahiko Numakura; Sachiko Kitanaka; Mitsuhiro Kato; Shigeo Ishikawa; Yoshioki Hamamoto; Yuriko Katsushima; Toshiyuki Kimura; Kiyoshi Hayasaka, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(9):2355 - 2359, 2010年09月
  • Supernumerary Impacted Teeth in a Patient With SOX2 Anophthalmia Syndrome, Chikahiko Numakura; Sachiko Kitanaka; Mitsuhiro Kato; Shigeo Ishikawa; Yoshioki Hamamoto; Yuriko Katsushima; Toshiyuki Kimura; Kiyoshi Hayasaka, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(9):2355 - 2359, 2010年09月
  • 脳形成障害・てんかんのトピックス : 年齢依存性てんかん性脳症と介在ニューロン病, 加藤 光広, 脳と発達, 42(5):333 - 338, 2010年09月
  • 脳形成障害・てんかんのトピックス : 年齢依存性てんかん性脳症と介在ニューロン病, 加藤 光広, 脳と発達, 42(5):333 - 338, 2010年09月
  • ヒトヘルペスウイルス7型による突発性発疹関連脳症の1例, 鈴木 恵美子; 片山 紗乙莉; 渡辺 哲; 内田 俊彦; 柏原 俊彦; 今野 昭宏; 饗場 智; 渡辺 真史; 藤山 純一; 加藤 光広; 早坂 清, 日本小児科学会雑誌, 114(8):1245 - 1245, 2010年08月
  • ヒトヘルペスウイルス7型による突発性発疹関連脳症の1例, 鈴木 恵美子; 片山 紗乙莉; 渡辺 哲; 内田 俊彦; 柏原 俊彦; 今野 昭宏; 饗場 智; 渡辺 真史; 藤山 純一; 加藤 光広; 早坂 清, 日本小児科学会雑誌, 114(8):1245 - 1245, 2010年08月
  • Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression, Ahmet Okay Caglayan; Hakan Gumus; Mitsuhiro Kato, Journal of Pediatric Neurosciences, 5(2):147 - 149, 2010年07月
  • Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression, Ahmet Okay Caglayan; Hakan Gumus; Mitsuhiro Kato, Journal of Pediatric Neurosciences, 5(2):147 - 149, 2010年07月
  • Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency, L. Brun; L. H. Ngu; W. T. Keng; G. S. Ch'Ng; Y. S. Choy; W. L. Hwu; W. T. Lee; M. A.A.P. Willemsen; M. M. Verbeek; T. Wassenberg; L. Régal; S. Orcesi; D. Tonduti; P. Accorsi; H. Testard; J. E. Abdenur; S. Tay; G. F. Allen; S. Heales; I. Kern; M. Kato; A. Burlina; C. Manegold; G. F. Hoffmann; N. Blau, Neurology, 75(1):64 - 71, 2010年07月
  • Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency, L. Brun; L. H. Ngu; W. T. Keng; G. S. Ch'Ng; Y. S. Choy; W. L. Hwu; W. T. Lee; M. A.A.P. Willemsen; M. M. Verbeek; T. Wassenberg; L. Régal; S. Orcesi; D. Tonduti; P. Accorsi; H. Testard; J. E. Abdenur; S. Tay; G. F. Allen; S. Heales; I. Kern; M. Kato; A. Burlina; C. Manegold; G. F. Hoffmann; N. Blau, Neurology, 75(1):64 - 71, 2010年07月
  • Dominant-Negative Mutations in alpha-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay, Hirotomo Saitsu; Jun Tohyama; Tatsuro Kumada; Kiyoshi Egawa; Keisuke Hamada; Ippei Okada; Takeshi Mizuguchi; Hitoshi Osaka; Rie Miyata; Tomonori Furukawa; Kazuhiro Haginoya; Hideki Hoshino; Tomohide Goto; Yasuo Hachiya; Takanori Yamagata; Shinji Saitoh; Toshiro Nagai; Kiyomi Nishiyama; Akira Nishimura; Noriko Miyake; Masayuki Komada; Kenji Hayashi; Syu-ichi Hirai; Kazuhiro Ogata; Mitsuhiro Kato; Atsuo Fukuda; Naomichi Matsumoto, AMERICAN JOURNAL OF HUMAN GENETICS, 86(6):881 - 891, 2010年06月
  • Dominant-Negative Mutations in alpha-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay, Hirotomo Saitsu; Jun Tohyama; Tatsuro Kumada; Kiyoshi Egawa; Keisuke Hamada; Ippei Okada; Takeshi Mizuguchi; Hitoshi Osaka; Rie Miyata; Tomonori Furukawa; Kazuhiro Haginoya; Hideki Hoshino; Tomohide Goto; Yasuo Hachiya; Takanori Yamagata; Shinji Saitoh; Toshiro Nagai; Kiyomi Nishiyama; Akira Nishimura; Noriko Miyake; Masayuki Komada; Kenji Hayashi; Syu-ichi Hirai; Kazuhiro Ogata; Mitsuhiro Kato; Atsuo Fukuda; Naomichi Matsumoto, AMERICAN JOURNAL OF HUMAN GENETICS, 86(6):881 - 891, 2010年06月
  • Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency, Shuhei Ide; Masayuki Sasaki; Mitsuhiro Kato; Takashi Shiihara; Satoru Kinoshita; Jun-ya Takahashi; Yu-ichi Goto, BRAIN & DEVELOPMENT, 32(6):506 - 510, 2010年06月
  • Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency, Shuhei Ide; Masayuki Sasaki; Mitsuhiro Kato; Takashi Shiihara; Satoru Kinoshita; Jun-ya Takahashi; Yu-ichi Goto, BRAIN & DEVELOPMENT, 32(6):506 - 510, 2010年06月
  • A case of Baraitser-Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia, Takashi Shiihara; Ken-ichi Maruyama; Yoshiyuki Yamada; Akira Nishimura; Naomichi Matsumoto; Mitsuhiro Kato; Satoru Sakazume, BRAIN & DEVELOPMENT, 32(6):502 - 505, 2010年06月
  • A case of Baraitser-Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia, Takashi Shiihara; Ken-ichi Maruyama; Yoshiyuki Yamada; Akira Nishimura; Naomichi Matsumoto; Mitsuhiro Kato; Satoru Sakazume, BRAIN & DEVELOPMENT, 32(6):502 - 505, 2010年06月
  • Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype, Kana Hosoki; Masayo Kagami; Touju Tanaka; Masaya Kubota; Kenji Kurosawa; Mitsuhiro Kato; Kimiaki Uetake; Jun Tohyama; Tsutomu Ogata; Shinji Saitoh, JOURNAL OF PEDIATRICS, 155(6):900 - U368, 2009年12月
  • Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype, Kana Hosoki; Masayo Kagami; Touju Tanaka; Masaya Kubota; Kenji Kurosawa; Mitsuhiro Kato; Kimiaki Uetake; Jun Tohyama; Tsutomu Ogata; Shinji Saitoh, JOURNAL OF PEDIATRICS, 155(6):900 - U368, 2009年12月
  • Inflammatory myopathy in early childhood is frequently associated with LMNA mutations, H. Komaki; Y. K. Hayashi; M. Kato; H. Sakuma; Y. Saito; E. Nakagawa; K. Sugai; M. Sasaki; I. Nonaka; I. Nishino, NEUROMUSCULAR DISORDERS, 19(8-9):647 - 647, 2009年09月
  • Inflammatory myopathy in early childhood is frequently associated with LMNA mutations, H. Komaki; Y. K. Hayashi; M. Kato; H. Sakuma; Y. Saito; E. Nakagawa; K. Sugai; M. Sasaki; I. Nonaka; I. Nishino, NEUROMUSCULAR DISORDERS, 19(8-9):647 - 647, 2009年09月
  • 重症皮質形成異常症における乳児期のイオマゼニル高集積病変(Iomazenil hyperfixation in lesions of severe cortical dysplasia during infancy), 日暮 憲道; 浜野 晋一郎; 折津 友隆; 南谷 幹之; 加藤 光広; 廣瀬 伸一, てんかん研究, 27(2):241 - 241, 2009年09月
  • 重症皮質形成異常症における乳児期のイオマゼニル高集積病変(Iomazenil hyperfixation in lesions of severe cortical dysplasia during infancy), 日暮 憲道; 浜野 晋一郎; 折津 友隆; 南谷 幹之; 加藤 光広; 廣瀬 伸一, てんかん研究, 27(2):241 - 241, 2009年09月
  • Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG), Rie Miyata; Masaharu Hayashi; Kentaro Miyai; Takumi Akashi; Mitsuhiro Kato; Jun Kohyama, BRAIN & DEVELOPMENT, 31(6):456 - 460, 2009年06月
  • Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG), Rie Miyata; Masaharu Hayashi; Kentaro Miyai; Takumi Akashi; Mitsuhiro Kato; Jun Kohyama, BRAIN & DEVELOPMENT, 31(6):456 - 460, 2009年06月
  • Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome, Hideo Kuniba; Koh-ichiro Yoshiura; Tatsuro Kondoh; Hirofumi Ohashi; Kenji Kurosawa; Hidefumi Tonoki; Toshiro Nagai; Nobuhiko Okamoto; Mitsuhiro Kato; Yoshimitsu Fukushima; Tadashi Kaname; Kenji Naritomi; Tadashi Matsumoto; Hiroyuki Moriuchi; Tatsuya Kishino; Akira Kinoshita; Noriko Miyake; Naomichi Matsumoto; Norio Niikawa, JOURNAL OF HUMAN GENETICS, 54(5):304 - 309, 2009年05月
  • Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome, Hideo Kuniba; Koh-ichiro Yoshiura; Tatsuro Kondoh; Hirofumi Ohashi; Kenji Kurosawa; Hidefumi Tonoki; Toshiro Nagai; Nobuhiko Okamoto; Mitsuhiro Kato; Yoshimitsu Fukushima; Tadashi Kaname; Kenji Naritomi; Tadashi Matsumoto; Hiroyuki Moriuchi; Tatsuya Kishino; Akira Kinoshita; Noriko Miyake; Naomichi Matsumoto; Norio Niikawa, JOURNAL OF HUMAN GENETICS, 54(5):304 - 309, 2009年05月
  • Bilateral Perisylvian Polymicrogyria, Periventricular Nodular Heterotopia, and Left Ventricular Noncompaction in a Girl With 10.5-11.1 Mb Terminal Deletion of 1p36, Shoji Saito; Rie Kawamura; Tomoki Kosho; Takashi Shimizu; Koki Aoyama; Kenichi Koike; Takahito Wada; Naotnichi Matsumoto; Mitsuhiro Kato; Keiko Wakui; Yoshimitsu Fukushima, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(22):2891 - 2897, 2008年11月
  • Bilateral Perisylvian Polymicrogyria, Periventricular Nodular Heterotopia, and Left Ventricular Noncompaction in a Girl With 10.5-11.1 Mb Terminal Deletion of 1p36, Shoji Saito; Rie Kawamura; Tomoki Kosho; Takashi Shimizu; Koki Aoyama; Kenichi Koike; Takahito Wada; Naotnichi Matsumoto; Mitsuhiro Kato; Keiko Wakui; Yoshimitsu Fukushima, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(22):2891 - 2897, 2008年11月
  • Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan., Kuniba Hideo; Tsuda Masayoshi; Nakashima Mitsuko; Miura Shoko; Miyake Noriko; Kondoh Tatsuro; Matsumoto Tadashi; Moriuchi Hiroyuki; Ohashi Hirofumi; Kurosawa Kenji; Tonoki Hidefumi; Nagai Toshiro; Okamoto Nobuhiko; Kato Mitsuhiro; Fukushima Yoshimitsu; Naritomi Kenji; Matsumoto Naomichi; Kinoshita Akira; Yoshiura Koh-ichiro; Niikawa Norio, Journal of medical genetics, 45(7):479 - 480, 2008年07月
  • Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan., Kuniba Hideo; Tsuda Masayoshi; Nakashima Mitsuko; Miura Shoko; Miyake Noriko; Kondoh Tatsuro; Matsumoto Tadashi; Moriuchi Hiroyuki; Ohashi Hirofumi; Kurosawa Kenji; Tonoki Hidefumi; Nagai Toshiro; Okamoto Nobuhiko; Kato Mitsuhiro; Fukushima Yoshimitsu; Naritomi Kenji; Matsumoto Naomichi; Kinoshita Akira; Yoshiura Koh-ichiro; Niikawa Norio, Journal of medical genetics, 45(7):479 - 480, 2008年07月
  • De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy, Hirotomo Saitsu; Mitsuhiro Kato; Takeshi Mizuguchi; Keisuke Hamada; Hitoshi Osaka; Jun Tohyama; Katsuhisa Uruno; Satoko Kumada; Kiyomi Nishiyama; Akira Nishimura; Ippei Okada; Yukiko Yoshimura; Syu-ichi Hirai; Tatsuro Kumada; Kiyoshi Hayasaka; Atsuo Fukuda; Kazuhiro Ogata; Naomichi Matsumoto, NATURE GENETICS, 40(6):782 - 788, 2008年06月
  • De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy, Hirotomo Saitsu; Mitsuhiro Kato; Takeshi Mizuguchi; Keisuke Hamada; Hitoshi Osaka; Jun Tohyama; Katsuhisa Uruno; Satoko Kumada; Kiyomi Nishiyama; Akira Nishimura; Ippei Okada; Yukiko Yoshimura; Syu-ichi Hirai; Tatsuro Kumada; Kiyoshi Hayasaka; Atsuo Fukuda; Kazuhiro Ogata; Naomichi Matsumoto, NATURE GENETICS, 40(6):782 - 788, 2008年06月
  • A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family., Kyoko Takano; Eiji Nakagawa; Ken Inoue; Fumiaki Kamada; Shigeo Kure; Yu-ichi Goto, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 147B(4):479 - 84, 2008年06月
  • A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family., Kyoko Takano; Eiji Nakagawa; Ken Inoue; Fumiaki Kamada; Shigeo Kure; Yu-ichi Goto, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 147B(4):479 - 84, 2008年06月
  • Two new cases of pure 1q terminal deletion presenting with brain malformations, Yoko Hiraki; Nobuhiko Okamoto; Tomoko Ida; Yusei Nakata; Masahiro Kamada; Yonehiro Kanemura; Mami Yamasaki; Hiroko Fujita; Gen Nishimura; Mitsuhiro Kato; Naoki Harada; Naomichi Matsumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(10):1241 - 1247, 2008年05月
  • Two new cases of pure 1q terminal deletion presenting with brain malformations, Yoko Hiraki; Nobuhiko Okamoto; Tomoko Ida; Yusei Nakata; Masahiro Kamada; Yonehiro Kanemura; Mami Yamasaki; Hiroko Fujita; Gen Nishimura; Mitsuhiro Kato; Naoki Harada; Naomichi Matsumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(10):1241 - 1247, 2008年05月
  • Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter, Jun Tohyama; Noriyuki Akasaka; Hitoshi Osaka; Yoshihiro Maegaki; Mitsuhiro Kato; Naka Saito; Sumimasa Yamashita; Kousaku Ohno, BRAIN & DEVELOPMENT, 30(5):349 - 355, 2008年05月
  • Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter, Jun Tohyama; Noriyuki Akasaka; Hitoshi Osaka; Yoshihiro Maegaki; Mitsuhiro Kato; Naka Saito; Sumimasa Yamashita; Kousaku Ohno, BRAIN & DEVELOPMENT, 30(5):349 - 355, 2008年05月
  • 序論, 広常 真治; 加藤 光広, 脳と発達 = OFFICIAL JOURNAL OF THE JAPANESE SOCIETY OF CHILD NEUROLOGY, 40(3):202 - 203, 2008年05月
  • 序論, 広常 真治; 加藤 光広, 脳と発達 = OFFICIAL JOURNAL OF THE JAPANESE SOCIETY OF CHILD NEUROLOGY, 40(3):202 - 203, 2008年05月
  • Megalencephaly and polymicrogyria with polydactyly syndrome, Jun Tohyama; Noriyuki Akasaka; Naka Saito; Junichi Yoshimura; Kenichi Nishiyama; Mitsuhiro Kato, PEDIATRIC NEUROLOGY, 37(2):148 - 151, 2007年08月
  • Megalencephaly and polymicrogyria with polydactyly syndrome, Jun Tohyama; Noriyuki Akasaka; Naka Saito; Junichi Yoshimura; Kenichi Nishiyama; Mitsuhiro Kato, PEDIATRIC NEUROLOGY, 37(2):148 - 151, 2007年08月
  • A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome), Mitsuhiro Kato; Shinji Saitoh; Atsushi Kamei; Hideaki Shiraishi; Yuki Ueda; Manami Akasaka; Jun Tohyama; Noriyuki Akasaka; Kiyoshi Hayasaka, AMERICAN JOURNAL OF HUMAN GENETICS, 81(2):361 - 366, 2007年08月
  • A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome), Mitsuhiro Kato; Shinji Saitoh; Atsushi Kamei; Hideaki Shiraishi; Yuki Ueda; Manami Akasaka; Jun Tohyama; Noriyuki Akasaka; Kiyoshi Hayasaka, AMERICAN JOURNAL OF HUMAN GENETICS, 81(2):361 - 366, 2007年08月
  • Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus, R. Guerrini; F. Moro; M. Kato; A. J. Barkovich; T. Shiihara; M. A. McShane; J. Hurst; M. Loi; J. Tohyama; V. Norci; K. Hayasaka; U. J. Kang; S. Das; W. B. Dobyns, NEUROLOGY, 69(5):427 - 433, 2007年07月
  • Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus, R. Guerrini; F. Moro; M. Kato; A. J. Barkovich; T. Shiihara; M. A. McShane; J. Hurst; M. Loi; J. Tohyama; V. Norci; K. Hayasaka; U. J. Kang; S. Das; W. B. Dobyns, NEUROLOGY, 69(5):427 - 433, 2007年07月
  • Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta 2 autoantibody, Takashi Shiihara; Mitsuhiro Kato; Akihiro Konno; Yukitoshi Takahashi; Kiyoshi Hayasaka, BRAIN & DEVELOPMENT, 29(4):254 - 256, 2007年05月
  • Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta 2 autoantibody, Takashi Shiihara; Mitsuhiro Kato; Akihiro Konno; Yukitoshi Takahashi; Kiyoshi Hayasaka, BRAIN & DEVELOPMENT, 29(4):254 - 256, 2007年05月
  • A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor delta 2, Tomoyuki Shimokaze; Mitsuhiro Kato; Yozo Yoshimura; Yukitoshi Takahashi; Kiyoshi Hayasaka, BRAIN & DEVELOPMENT, 29(4):224 - 226, 2007年05月
  • A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor delta 2, Tomoyuki Shimokaze; Mitsuhiro Kato; Yozo Yoshimura; Yukitoshi Takahashi; Kiyoshi Hayasaka, BRAIN & DEVELOPMENT, 29(4):224 - 226, 2007年05月
  • Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene, Shozo Honda; Shin Hayashi; Mitsuhiro Kato; Yo Niida; Kiyoshi Hayasaka; Torayuki Okuyama; Issei Imoto; Shuki Mizutani; Johji Inazawa, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A(7):687 - 693, 2007年04月
  • Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene, Shozo Honda; Shin Hayashi; Mitsuhiro Kato; Yo Niida; Kiyoshi Hayasaka; Torayuki Okuyama; Issei Imoto; Shuki Mizutani; Johji Inazawa, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A(7):687 - 693, 2007年04月
  • Acute encephalopathy with refractory status epilepticus: Bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage, Takashi Shiihara; Mitsuhiro Kato; Takashi Ichiyama; Yukitoshi Takahashi; Naoyuki Tanuma; Rie Miyata; Kiyoshi Hayasaka, JOURNAL OF THE NEUROLOGICAL SCIENCES, 250(1-2):159 - 161, 2006年12月
  • Acute encephalopathy with refractory status epilepticus: Bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage, Takashi Shiihara; Mitsuhiro Kato; Takashi Ichiyama; Yukitoshi Takahashi; Naoyuki Tanuma; Rie Miyata; Kiyoshi Hayasaka, JOURNAL OF THE NEUROLOGICAL SCIENCES, 250(1-2):159 - 161, 2006年12月
  • A new paradigm for West syndrome based on molecular and cell biology, Mitsuhiro Kato, EPILEPSY RESEARCH, 70:S87 - S95, 2006年08月
  • A new paradigm for West syndrome based on molecular and cell biology, Mitsuhiro Kato, EPILEPSY RESEARCH, 70:S87 - S95, 2006年08月
  • Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy, T Kamimura; J Tohyama; M Oishi; N Akasaka; O Kanazawa; M Sasagawa; M Kato; K Ohno; H Masuda; S Kameyama; M Uchiyama, EPILEPSIA, 47(6):991 - 997, 2006年06月
  • Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy, T Kamimura; J Tohyama; M Oishi; N Akasaka; O Kanazawa; M Sasagawa; M Kato; K Ohno; H Masuda; S Kameyama; M Uchiyama, EPILEPSIA, 47(6):991 - 997, 2006年06月
  • Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy, J Takanashi; H Oba; AJ Barkovich; H Tada; Y Tanabe; H Yamanouchi; S Fujimoto; M Kato; M Kawatani; A Sudo; H Ozawa; T Okanishi; M Ishitobi; Y Maegaki; Y Koyasu, NEUROLOGY, 66(9):1304 - 1309, 2006年05月
  • Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy, J Takanashi; H Oba; AJ Barkovich; H Tada; Y Tanabe; H Yamanouchi; S Fujimoto; M Kato; M Kawatani; A Sudo; H Ozawa; T Okanishi; M Ishitobi; Y Maegaki; Y Koyasu, NEUROLOGY, 66(9):1304 - 1309, 2006年05月
  • BAC array CGH reveals genomic aberrations in idiopathic mental retardation, N Miyake; O Shimokawa; N Harada; N Sosonkina; A Okubo; H Kawara; N Okamoto; K Kurosawa; H Kawame; M Iwakoshi; T Kosho; Y Fukushima; Y Makita; Y Yokoyama; T Yamagata; M Kato; Y Hiraki; M Nomura; K Yoshiura; T Kishino; T Ohta; T Mizuguchi; N Niikawa; N Matsumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A(3):205 - 211, 2006年02月
  • BAC array CGH reveals genomic aberrations in idiopathic mental retardation, N Miyake; O Shimokawa; N Harada; N Sosonkina; A Okubo; H Kawara; N Okamoto; K Kurosawa; H Kawame; M Iwakoshi; T Kosho; Y Fukushima; Y Makita; Y Yokoyama; T Yamagata; M Kato; Y Hiraki; M Nomura; K Yoshiura; T Kishino; T Ohta; T Mizuguchi; N Niikawa; N Matsumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A(3):205 - 211, 2006年02月
  • No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients, N Miyake; O Shimokawa; N Harada; N Sosonkina; A Okubo; H Kawara; N Okamoto; H Ohashi; K Kurosawa; K Naritomi; T Kaname; T Nagai; Shotelersuk, V; JW Hou; Y Fukushima; T Kondoh; T Matsumoto; T Shinoki; M Kato; H Tonoki; M Nomura; K Yoshiura; T Kishino; T Ohta; N Niikawa; N Matsumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A(3):291 - 293, 2006年02月
  • No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients, N Miyake; O Shimokawa; N Harada; N Sosonkina; A Okubo; H Kawara; N Okamoto; H Ohashi; K Kurosawa; K Naritomi; T Kaname; T Nagai; Shotelersuk, V; JW Hou; Y Fukushima; T Kondoh; T Matsumoto; T Shinoki; M Kato; H Tonoki; M Nomura; K Yoshiura; T Kishino; T Ohta; N Niikawa; N Matsumoto, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A(3):291 - 293, 2006年02月
  • Simultaneous spectrophotometric analysis of aliphatic amines utilizing thermochromism of charge-transfer complexes with tetrabromophenolphthalein ethyl ester., Sakai T; Kato M; Teshima N, Analytical sciences : the international journal of the Japan Society for Analytical Chemistry, 21(12):1557 - 1560, 2005年12月
  • Simultaneous spectrophotometric analysis of aliphatic amines utilizing thermochromism of charge-transfer complexes with tetrabromophenolphthalein ethyl ester., Sakai T; Kato M; Teshima N, Analytical sciences : the international journal of the Japan Society for Analytical Chemistry, 21(12):1557 - 1560, 2005年12月
  • Costello syndrome showing moyamoya-like vasculopathy, T Shiihara; M Kato; Y Mitsuhashi; K Hayasaka, PEDIATRIC NEUROLOGY, 32(5):361 - 363, 2005年05月
  • Costello syndrome showing moyamoya-like vasculopathy, T Shiihara; M Kato; Y Mitsuhashi; K Hayasaka, PEDIATRIC NEUROLOGY, 32(5):361 - 363, 2005年05月
  • X-Linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: Proposal for a new term, "interneuronopathy", M Kato; WB Dobyns, JOURNAL OF CHILD NEUROLOGY, 20(4):392 - 397, 2005年04月
  • X-Linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: Proposal for a new term, "interneuronopathy", M Kato; WB Dobyns, JOURNAL OF CHILD NEUROLOGY, 20(4):392 - 397, 2005年04月
  • Clinically mild encephalitis/encephalopathy with a reversible splenial lesion, T Shiihara; M Kato; K Hayasaka, NEUROLOGY, 64(8):1487 - 1487, 2005年04月
  • Clinically mild encephalitis/encephalopathy with a reversible splenial lesion, T Shiihara; M Kato; K Hayasaka, NEUROLOGY, 64(8):1487 - 1487, 2005年04月
  • Molecular screening for Moyamoya disease by use of expressed sequence tag on chromosome 3p, Toshiyuki Yamamoto; Yuko Akasaka; Kyoichi Ohtani; Takashi Hayashi; Shiro Kashiwagi; Takashi Ichiyama; Miki Nishikawa; Mitsuhiro Kato; Yoshihiro Maegaki; Akira Oka; Kousaku Ohno, No To Hattatsu, 37(1):20 - 25, 2005年
  • Molecular screening for Moyamoya disease by use of expressed sequence tag on chromosome 3p, Toshiyuki Yamamoto; Yuko Akasaka; Kyoichi Ohtani; Takashi Hayashi; Shiro Kashiwagi; Takashi Ichiyama; Miki Nishikawa; Mitsuhiro Kato; Yoshihiro Maegaki; Akira Oka; Kousaku Ohno, No To Hattatsu, 37(1):20 - 25, 2005年
  • No association between Moyamoya disease and polymorphism of IGF2R, Toshiyuki Yamamoto; Yuko Akasaka; Kyoichi Ohtani; Takashi Hayashi; Shiro Kashiwagi; Takashi Ichiyama; Miki Nishikawa; Mitsuhiro Kato; Yoshihiro Maegaki; Akira Oka; Kousaku Ohno, No To Hattatsu, 37(1):15 - 19, 2005年
  • No association between Moyamoya disease and polymorphism of IGF2R, Toshiyuki Yamamoto; Yuko Akasaka; Kyoichi Ohtani; Takashi Hayashi; Shiro Kashiwagi; Takashi Ichiyama; Miki Nishikawa; Mitsuhiro Kato; Yoshihiro Maegaki; Akira Oka; Kousaku Ohno, No To Hattatsu, 37(1):15 - 19, 2005年
  • Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP, T Shiihara; Y Sawaishi; M Adachi; M Kato; K Hayasaka, JOURNAL OF THE NEUROLOGICAL SCIENCES, 225(1-2):125 - 127, 2004年10月
  • Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP, T Shiihara; Y Sawaishi; M Adachi; M Kato; K Hayasaka, JOURNAL OF THE NEUROLOGICAL SCIENCES, 225(1-2):125 - 127, 2004年10月
  • Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy., Takashi Shiihara; Mitsuhiro Kato; Toshiyuki Kimura; Kiyoshi Hayasaka; Shunji Yamamori; Tsutomu Ogata, American journal of medical genetics. Part A, 128A(2):214 - 6, 2004年07月
  • Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy., Takashi Shiihara; Mitsuhiro Kato; Toshiyuki Kimura; Kiyoshi Hayasaka; Shunji Yamamori; Tsutomu Ogata, American journal of medical genetics. Part A, 128A(2):214 - 6, 2004年07月
  • 頭蓋早期癒合症を呈したMSX2遺伝子を含む5q部分トリソミーの1例, 椎原 隆; 加藤 光広; 木村 敏之; 緒方 勤; 山森 俊治; 早坂 清, 日本小児科学会雑誌, 108(2):180 - 180, 2004年02月
  • 頭蓋早期癒合症を呈したMSX2遺伝子を含む5q部分トリソミーの1例, 椎原 隆; 加藤 光広; 木村 敏之; 緒方 勤; 山森 俊治; 早坂 清, 日本小児科学会雑誌, 108(2):180 - 180, 2004年02月
  • Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation, M Kato; S Das; K Petras; K Kitamura; KI Morohashi; DN Abuelo; M Barr; D Bonneau; AF Brady; NJ Carpenter; KL Cipero; F Frisone; T Fukuda; R Guerrini; E Iida; M Itoh; AF Lewanda; Y Nanba; A Oka; VK Proud; P Saugier-Veber; SL Schelley; A Selicorni; R Shaner; M Silengo; F Stewart; N Sugiyama; J Toyama; A Toutain; AL Vargas; M Yanazawa; EH Zackai; WB Dobyns, HUMAN MUTATION, 23(2):147 - 159, 2004年
  • Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation, M Kato; S Das; K Petras; K Kitamura; KI Morohashi; DN Abuelo; M Barr; D Bonneau; AF Brady; NJ Carpenter; KL Cipero; F Frisone; T Fukuda; R Guerrini; E Iida; M Itoh; AF Lewanda; Y Nanba; A Oka; VK Proud; P Saugier-Veber; SL Schelley; A Selicorni; R Shaner; M Silengo; F Stewart; N Sugiyama; J Toyama; A Toutain; AL Vargas; M Yanazawa; EH Zackai; WB Dobyns, HUMAN MUTATION, 23(2):147 - 159, 2004年
  • Polyalanine expansion of ARX associated with cryptogenic West syndrome, M Kato; S Das; K Petras; Y Sawaishi; WB Dobyns, NEUROLOGY, 61(2):267 - 268, 2003年07月
  • Polyalanine expansion of ARX associated with cryptogenic West syndrome, M Kato; S Das; K Petras; Y Sawaishi; WB Dobyns, NEUROLOGY, 61(2):267 - 268, 2003年07月
  • Lissencephaly and the molecular basis of neuronal migration, M Kato; WB Dobyns, HUMAN MOLECULAR GENETICS, 12:R89 - R96, 2003年04月
  • Lissencephaly and the molecular basis of neuronal migration, M Kato; WB Dobyns, HUMAN MOLECULAR GENETICS, 12:R89 - R96, 2003年04月
  • Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: A possible mild form of Galloway-Mowat syndrome, T Shiihara; M Kato; T Kimura; A Matsunaga; K Joh; K Hayasaka, JOURNAL OF CHILD NEUROLOGY, 18(2):147 - 149, 2003年02月
  • Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: A possible mild form of Galloway-Mowat syndrome, T Shiihara; M Kato; T Kimura; A Matsunaga; K Joh; K Hayasaka, JOURNAL OF CHILD NEUROLOGY, 18(2):147 - 149, 2003年02月
  • Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans, K Kitamura; M Yanazawa; N Sugiyama; H Miura; A Iizuka-Kogo; M Kusaka; K Omichi; R Suzuki; Y Kato-Fukui; K Kamiirisa; M Matsuo; S Kamijo; M Kasahara; H Yoshioka; T Ogata; T Fukuda; Kondo, I; M Kato; WB Dobyns; M Yokoyama; K Morohashi, NATURE GENETICS, 32(3):359 - 369, 2002年11月
  • Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans, K Kitamura; M Yanazawa; N Sugiyama; H Miura; A Iizuka-Kogo; M Kusaka; K Omichi; R Suzuki; Y Kato-Fukui; K Kamiirisa; M Matsuo; S Kamijo; M Kasahara; H Yoshioka; T Ogata; T Fukuda; Kondo, I; M Kato; WB Dobyns; M Yokoyama; K Morohashi, NATURE GENETICS, 32(3):359 - 369, 2002年11月
  • Contrast sensitivity of patients with severe motor and intellectual disabilities and cerebral visual impairment, S Sakai; K Hirayama; S Iwasaki; A Yamadori; N Sato; A Ito; M Kato; M Sudo; K Tsuburaya, JOURNAL OF CHILD NEUROLOGY, 17(10):731 - 737, 2002年10月
  • Contrast sensitivity of patients with severe motor and intellectual disabilities and cerebral visual impairment, S Sakai; K Hirayama; S Iwasaki; A Yamadori; N Sato; A Ito; M Kato; M Sudo; K Tsuburaya, JOURNAL OF CHILD NEUROLOGY, 17(10):731 - 737, 2002年10月
  • Progressive sliding hiatal hernia as a complication of Menkes' syndrome, T Shiihara; M Kato; T Honma; T Kimura; A Matsunaga; H Kodama; K Hayasaka, JOURNAL OF CHILD NEUROLOGY, 17(5):401 - 402, 2002年05月
  • Progressive sliding hiatal hernia as a complication of Menkes' syndrome, T Shiihara; M Kato; T Honma; T Kimura; A Matsunaga; H Kodama; K Hayasaka, JOURNAL OF CHILD NEUROLOGY, 17(5):401 - 402, 2002年05月
  • Fluctuation of computed tomographic findings in white matter in Alexander's disease, T Shiihara; M Kato; T Honma; S Ohtaki; Y Sawaishi; K Hayasaka, JOURNAL OF CHILD NEUROLOGY, 17(3):227 - 230, 2002年03月
  • Fluctuation of computed tomographic findings in white matter in Alexander's disease, T Shiihara; M Kato; T Honma; S Ohtaki; Y Sawaishi; K Hayasaka, JOURNAL OF CHILD NEUROLOGY, 17(3):227 - 230, 2002年03月
  • Cerebrospinal fluid levels of cytokines and soluble tumour necrosis factor receptor in acute disseminated encephalomyelitis, T Ichiyama; H Shoji; M Kato; Y Sawaishi; H Ozawa; T Matsubara; S Furukawa, EUROPEAN JOURNAL OF PEDIATRICS, 161(3):133 - 137, 2002年03月
  • Cerebrospinal fluid levels of cytokines and soluble tumour necrosis factor receptor in acute disseminated encephalomyelitis, T Ichiyama; H Shoji; M Kato; Y Sawaishi; H Ozawa; T Matsubara; S Furukawa, EUROPEAN JOURNAL OF PEDIATRICS, 161(3):133 - 137, 2002年03月
  • Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosis, T Kimura; H Ikeda; M Kato; A Ito; M Okubo; K Hayasaka, JOURNAL OF INHERITED METABOLIC DISEASE, 24(8):873 - 874, 2001年12月
  • Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosis, T Kimura; H Ikeda; M Kato; A Ito; M Okubo; K Hayasaka, JOURNAL OF INHERITED METABOLIC DISEASE, 24(8):873 - 874, 2001年12月
  • モヤモヤ病原因遺伝子クローニングの試み, 山本 俊至; 赤阪 裕子; 難波 栄二; 林 隆; 柏木 史郎; 市山 高志; 西河 美希; 加藤 光広; 大谷 恭一; 前垣 義弘, 脳と発達, 33(Suppl.):S129 - S129, 2001年05月
  • モヤモヤ病原因遺伝子クローニングの試み, 山本 俊至; 赤阪 裕子; 難波 栄二; 林 隆; 柏木 史郎; 市山 高志; 西河 美希; 加藤 光広; 大谷 恭一; 前垣 義弘, 脳と発達, 33(Suppl.):S129 - S129, 2001年05月
  • モヤモヤ病とIGF2R遺伝子のゲノム刷り込みについて, 赤阪 裕子; 山本 俊至; 難波 栄二; 林 隆; 柏木 史郎; 市山 高志; 西河 美希; 加藤 光広; 大谷 恭一; 前垣 義弘, 脳と発達, 33(Suppl.):S129 - S129, 2001年05月
  • モヤモヤ病とIGF2R遺伝子のゲノム刷り込みについて, 赤阪 裕子; 山本 俊至; 難波 栄二; 林 隆; 柏木 史郎; 市山 高志; 西河 美希; 加藤 光広; 大谷 恭一; 前垣 義弘, 脳と発達, 33(Suppl.):S129 - S129, 2001年05月
  • Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis, Mitsuhiro Kato; Masayo Kanai; Osamu Soma; Yuichi Takusa; Toshiyuki Kimura; Chikahiko Numakura; Takasumi Matsuki; Shigeki Nakamura; Kiyoshi Hayasaka, Annals of Neurology, 50(4):547 - 551, 2001年
  • Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis, Mitsuhiro Kato; Masayo Kanai; Osamu Soma; Yuichi Takusa; Toshiyuki Kimura; Chikahiko Numakura; Takasumi Matsuki; Shigeki Nakamura; Kiyoshi Hayasaka, Annals of Neurology, 50(4):547 - 551, 2001年
  • Rett症候群患児に対する目的的な手の使用を目指したアプローチ 食事場面でのスプーン操作を通して, 境信哉; 渡辺祐子; 佐竹真次; 加藤光広; 伊東愛子; 村井真由美; 青山宏; 円谷建治, 日本重症心身障害学会誌, 25(3):51 - 54, 2000年11月
  • Rett症候群患児に対する目的的な手の使用を目指したアプローチ 食事場面でのスプーン操作を通して, 境信哉; 渡辺祐子; 佐竹真次; 加藤光広; 伊東愛子; 村井真由美; 青山宏; 円谷建治, 日本重症心身障害学会誌, 25(3):51 - 54, 2000年11月
  • SHH遺伝子のシグナル配列に変異を認めた全前脳胞症の1例, 加藤 光広; 難波 栄二; 赤星 進二郎; 椎原 隆; 伊東 愛子; 本間 友美; 早坂 清, 脳と発達, 32(Suppl.):S245 - S245, 2000年05月
  • SHH遺伝子のシグナル配列に変異を認めた全前脳胞症の1例, 加藤 光広; 難波 栄二; 赤星 進二郎; 椎原 隆; 伊東 愛子; 本間 友美; 早坂 清, 脳と発達, 32(Suppl.):S245 - S245, 2000年05月
  • Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1, T Ikegami; CQ Lin; M Kato; A Itoh; Nonaka, I; M Kurimura; H Hirayabashi; Y Shinohara; A Mochizuki; K Hayasaka, AMERICAN JOURNAL OF MEDICAL GENETICS, 80(4):352 - 355, 1998年12月
  • Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1, T Ikegami; CQ Lin; M Kato; A Itoh; Nonaka, I; M Kurimura; H Hirayabashi; Y Shinohara; A Mochizuki; K Hayasaka, AMERICAN JOURNAL OF MEDICAL GENETICS, 80(4):352 - 355, 1998年12月
  • Multiple sulphatase deficiency and haemophagocytic syndrome, H Ikeda; M Kato; A Matsunaga; Y Shimizu; M Katsuura; K Hayasaka, EUROPEAN JOURNAL OF PEDIATRICS, 157(7):553 - 554, 1998年07月
  • Multiple sulphatase deficiency and haemophagocytic syndrome, H Ikeda; M Kato; A Matsunaga; Y Shimizu; M Katsuura; K Hayasaka, EUROPEAN JOURNAL OF PEDIATRICS, 157(7):553 - 554, 1998年07月
  • A tyrosine kinase-like molecule is localized in the nuclear membrane of neurons: Hippocampal behavior under stress, Yasushi Kajii; Daiki Ninomiya; Mitsuhiro Kato; Masashi Mizuguchi; Makoto Saji; Tetsuo Katsumoto; Kousaku Ohno; Sachio Takashima; Kazukiyo Onodera, Biology of the Cell, 88(1-2):45 - 54, 1997年
  • A tyrosine kinase-like molecule is localized in the nuclear membrane of neurons: Hippocampal behavior under stress, Yasushi Kajii; Daiki Ninomiya; Mitsuhiro Kato; Masashi Mizuguchi; Makoto Saji; Tetsuo Katsumoto; Kousaku Ohno; Sachio Takashima; Kazukiyo Onodera, Biology of the Cell, 88(1-2):45 - 54, 1997年
  • Cerebellar leptomeningeal astroglial heterotopia in neurofibromatosis type 1, M. Kato; S. Takashima; S. Houdou; S. Miyahara, Clinical Neuropathology, 14(3):175 - 178, 1995年
  • Cerebellar leptomeningeal astroglial heterotopia in neurofibromatosis type 1, M. Kato; S. Takashima; S. Houdou; S. Miyahara, Clinical Neuropathology, 14(3):175 - 178, 1995年
  • 胎児・新生児仮死-最近の話題-(1)神経病理の立場から(共著), 加藤 光広; 高嶋 幸男, 小児科診療, 10(10):1725 - 1730, 1994年
  • 胎児・新生児仮死-最近の話題-(1)神経病理の立場から(共著), 加藤 光広; 高嶋 幸男, 小児科診療, 10(10):1725 - 1730, 1994年

MISC

  • IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis., SHIGEMIZU D;MIYA F;AKIYAMA S;OKUDA S;BOROEVICH KA;FUJIMOTO A;NAKAGAWA H;OZAKI K;NIIDA S;KANEMURA Y;OKAMOTO N;SAITOH S;KATO Mitsuhiro;YAMASAKI M;MATSUNAGA T;MUTAI H;KOSAKI K;TSUNODA T, Sci Rep, 8(1):5608, 2018年04月

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