Nakamura, Akinori; Matsumura, Tsuyoshi; Ogata, Katsuhisa; Mori-Yoshimura, Madoka; Takeshita, Eri; Kimura, Koichi; Kawashima, Takahiro; Tomo, Yui; Arahata, Hajime; Miyazaki, Daigo; Takeshima, Yasuhiro; Takahashi, Toshiaki; Ishigaki, Keiko; Kuru, Satoshi; Wakisaka, Akiko; Awano, Hiroyuki; Funato, Michinori; Sato, Tatsuharu; Saito, Yoshiaki; Takada, Hiroto; Sugie, Kazuma; Kobayashi, Michio; Ozasa, Shiro; Fujii, Tatsuya; Maegaki, Yoshihiro; Oi, Hideki; Tachimori, Hisateru; Komaki, Hirofumi

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

儿童小脑发育不全和萎缩的遗传和临床景观

GENETICS IN MEDICINE

IF6.2

2022-12-012

OAAI

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; Gursoy, 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

Determining neurodevelopmental manifestations in Duchenne muscular dystrophy using a battery of brief tests

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2022-09-013

PRE

Highly sensitive screening of antisense sequences for different types of DMD mutations in patients? urine-derived cells

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2021-04-015

OAAI

Hyperglycemic Crisis in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)

PEDIATRIC NEUROLOGY

IF2.1

2021-01-013

PREAI

Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2020-12-0763

OAAI

Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2020-11-308

OAAI

Hayase, Yoneko; Amano, Shigeru; Hashizume, Koichi; Tominaga, Takashi; Miyamoto, Hiroyuki; Kanno, Yukie; Ueno-Inoue, Yukiko; Inoue, Takayoshi; Yamada, Mayumi; Ogata, Shigehiro; Balan, Shabeesh; Hayashi, Ken; Miura, Yoshiki; Tokudome, Kentaro; Ohno, Yukihiro; Nishijo, Takuma; Momiyama, Toshihiko; Yanagawa, Yuchio; Takizawa, Akiko; Mashimo, Tomoji; Serikawa, Tadao; Sekine, Akihiro; Nakagawa, Eiji; Takeshita, Eri; Yoshikawa, Takeo; Waga, Chikako; Inoue, Ken; Goto, Yu-ichi; Nabeshima, Yoichi; Ihara, Nobuo; Yamakawa, Kazuhiro; Taya, Shinichiro; Hoshino, Mikio

Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses

使用外显子组数据有效检测拷贝数变异: 基于批次和性别的分析

HUMAN MUTATION

IF3.7

2020-11-1126

OAAI

Uchiyama, Yuri; Yamaguchi, Daisuke; Iwama, Kazuhiro; Miyatake, Satoko; Hamanaka, Kohei; Tsuchida, Naomi; Aoi, Hiromi; Azuma, Yoshiteru; Itai, Toshiyuki; Saida, Ken; Fukuda, Hiromi; Sekiguchi, Futoshi; Sakaguchi, Tomohiro; Lei, Ming; Ohori, Sachiko; Sakamoto, Masamune; Kato, Mitsuhiro; Koike, Takayoshi; Takahashi, Yukitoshi; Tanda, Koichi; Hyodo, Yuki; Honjo, Rachel S.; Bertola, Debora Romeo; Kim, Chong Ae; Goto, Masahide; Okazaki, Tetsuya; Yamada, Hiroyuki; Maegaki, Yoshihiro; Osaka, Hitoshi; Ngu, Lock-Hock; Siew, Ch'ng G.; Teik, Keng W.; Akasaka, Manami; Doi, Hiroshi; Tanaka, Fumiaki; Goto, Tomohide; Guo, Long; Ikegawa, Shiro; Haginoya, Kazuhiro; Haniffa, Muzhirah; Hiraishi, Nozomi; Hiraki, Yoko; Ikemoto, Satoru; Daida, Atsuro; Hamano, Shin-ichiro; Miura, Masaki; Ishiyama, Akihiko; Kawano, Osamu; Kondo, Akane; Matsumoto, Hiroshi; Okamoto, Nobuhiko; Okanishi, Tohru; Oyoshi, Yukimi; Takeshita, Eri; Suzuki, Toshifumi; Ogawa, Yoshiyuki; Handa, Hiroshi; Miyazono, Yayoi; Koshimizu, Eriko; Fujita, Atsushi; Takata, Atsushi; Miyake, Noriko; Mizuguchi, Takeshi; Matsumoto, Naomichi

ATP1A3variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2020-09-0714

OAAI

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

定义FHF1发育性和癫痫性脑病的表型

EPILEPSIA

IF6.6

2020-07-0913

OAAI

Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathieu, Marie L.; Minassian, Berge A.; Novelli, Antonio; Pietrafusa, Nicola; Takeshita, Eri; Tartaglia, Marco; Terracciano, Alessandra; Thompson, Michelle L.; Cooper, Gregory M.; Vigevano, Federico; Villard, Laurent; Villeneuve, Nathalie; Buyse, Gunnar M.; Demos, Michelle; Scheffer, Ingrid E.; Specchio, Nicola

New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies

AMERICAN JOURNAL OF NEURORADIOLOGY

IF3.7

2020-05-214