Matsukawa, Takashi; Yamamoto, Tomotaka; Honda, Akira; Toya, Takashi; Ishiura, Hiroyuki; Mitsui, Jun; Tanaka, Masaki; Hao, Akihito; Shinohara, Akihito; Ogura, Mizuki; Kataoka, Keisuke; Seo, Sachiko; Kumano, Keiki; Hosoi, Masataka; Narukawa, Kensuke; Yasunaga, Megumi; Maki, Hiroaki; Ichikawa, Motoshi; Nannya, Yasuhito; Imai, Yoichi; Takahashi, Tsuyoshi; Takahashi, Yuji; Nagasako, Yuki; Yasaka, Kyoko; Mano, Kagari Koshi; Matsukawa, Miho Kawabe; Miyagawa, Toji; Hamada, Masashi; Sakuishi, Kaori; Hayashi, Toshihiro; Iwata, Atsushi; Terao, Yasuo; Shimizu, Jun; Goto, Jun; Mori, Harushi; Kunimatsu, Akira; Aoki, Shigeki; Hayashi, Shin; Nakamura, Fumihiko; Arai, Syunya; Momma, Kazunari; Ogata, Katsuhisa; Yoshida, Toshikazu; Abe, Osamu; Inazawa, Johji; Toda, Tatsushi; Kurokawa, Mineo; Tsuji, Shoji

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

NATURE GENETICS

IF31.8

2019-07-22292

PREAI

Ishiura, Hiroyuki; Shibata, Shota; Yoshimura, Jun; Suzuki, Yuta; Qu, Wei; Doi, Koichiro; Almansour, M. Asem; Kikuchi, Junko Kanda; Taira, Makiko; Mitsui, Jun; Takahashi, Yuji; Ichikawa, Yaeko; Mano, Tatsuo; Iwata, Atsushi; Harigaya, Yasuo; Matsukawa, Miho Kawabe; Matsukawa, Takashi; Tanaka, Masaki; Shirota, Yuichiro; Ohtomo, Ryo; Kowa, Hisatomo; Date, Hidetoshi; Mitsue, Aki; Hatsuta, Hiroyuki; Morimoto, Satoru; Murayama, Shigeo; Shiio, Yasushi; Saito, Yuko; Mitsutake, Akihiko; Kawai, Mizuho; Sasaki, Takuya; Sugiyama, Yusuke; Hamada, Masashi; Ohtomo, Gaku; Terao, Yasuo; Nakazato, Yoshihiko; Takeda, Akitoshi; Sakiyama, Yoshio; Umeda-Kameyama, Yumi; Shinmi, Jun; Ogata, Katsuhisa; Kohno, Yutaka; Lim, Shen-Yang; Tan, Ai Huey; Shimizu, Jun; Goto, Jun; Nishino, Ichizo; Toda, Tatsushi; Morishita, Shinichi; Tsuji, Shoji

Inflammatory myopathy with myasthenia gravis Thymoma association and polymyositis pathology

NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION

IF7.5

2019-03-0126

OAAI

Granulomatous myositis induced by anti-PD-1 monoclonal antibodies

NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION

IF7.5

2018-07-0114

OAAI

Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis

WDFY4的剪接变体增强了MDA5信号传导和临床肌病性皮肌炎的风险

ANNALS OF THE RHEUMATIC DISEASES

IF20.6

2018-04-0156

OAAI

Kochi, Yuta; Kamatani, Yoichiro; Kondo, Yuya; Suzuki, Akari; Kawakami, Eiryo; Hiwa, Ryosuke; Momozawa, Yukihide; Fujimoto, Manabu; Jinnin, Masatoshi; Tanaka, Yoshiya; Kanda, Takashi; Cooper, Robert G.; Chinoy, Hector; Rothwell, Simon; Lamb, Janine A.; Vencovsky, Jiri; Mann, Herman; Ohmura, Koichiro; Myouzen, Keiko; Ishigaki, Kazuyoshi; Nakashima, Ran; Hosono, Yuji; Tsuboi, Hiroto; Kawasumi, Hidenaga; Iwasaki, Yukiko; Kajiyama, Hiroshi; Horita, Tetsuya; Ogawa-Momohara, Mariko; Takamura, Akito; Tsunoda, Shinichiro; Shimizu, Jun; Fujio, Keishi; Amano, Hirofumi; Mimori, Akio; Kawakami, Atsushi; Umehara, Hisanori; Takeuchi, Tsutomu; Sano, Hajime; Muro, Yoshinao; Atsumi, Tatsuya; Mimura, Toshihide; Kawaguchi, Yasushi; Mimori, Tsuneyo; Takahashi, Atsushi; Kubo, Michiaki; Kohsaka, Hitoshi; Sumida, Takayuki; Yamamoto, Kazuhiko

A new method to visualize abnormal lipid accumulation in tissues from Fabry disease patient using Raman spectroscopic marker of globotriaosylceramide

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2017-10-011

PREAI

Interpretation of sequence variants called by whole exome sequencing in the clinical sequence of muscular diseases

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2017-10-010

PREAI

A rare clinical presentation of neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) accompanied with spinal cord atrophy: A case report

JOURNAL OF THE NEUROLOGICAL SCIENCES