論文 - 石浦 浩之
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Biallelic variants in DNAJC7 cause familial amyotrophic lateral sclerosis with the TDP-43 pathology. 査読 国際誌
Toru Yamashita, Osamu Yokota, Daiki Ousaka, Hongming Sun, Takashi Haraguchi, Ricardo Satoshi Ota-Elliott, Chika Matsuoka, Tomohito Kawano, Hanae Nakashima-Yasuda, Yusuke Fukui, Yumiko Nakano, Ryuta Morihara, Masato Hasegawa, Yasuyuki Hosono, Seishi Terada, Manabu Takaki, Hiroyuki Ishiura
Acta neuropathologica 150 ( 1 ) 19 - 19 2025年8月
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Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families. 査読
Taijun Yunoki, Chika Matsuoka, Yosuke Osakada, Yusuke Fukui, Mami Takemoto, Ryuta Morihara, Toru Yamashita, Hiroyuki Ishiura
Internal medicine (Tokyo, Japan) 2025年6月
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Identification of New Repeat Expansion Diseases 招待 査読
Hiroyuki Ishiura
Neurology and Clinical Neuroscience 13 ( 4 ) 244 - 249 2025年5月
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Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints. 招待 査読 国際誌
Hiroyuki Ishiura
Journal of neuromuscular diseases 22143602251319164 - 22143602251319164 2025年3月
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Long-Term Follow-Up of a Patient With SPG11 査読
Yosuke Osakada, Taijun Yunoki, Chika Matsuoka, Yusuke Fukui, Keiichiro Tsunoda, Kentaro Deguchi, Ryuta Morihara, Toru Yamashita, Hiroyuki Ishiura
Neurology and Clinical Neuroscience 13 ( 3 ) 198 - 200 2025年1月
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Late-onset MELAS: a case report of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes in a 55-year-old patient 査読
Taira Yuki, Toru Yamashita, Ryuta Morihara, Taijun Yunoki, Chika Matsuoka, Kawano Tomohito, Yusuke Fukui, Hiroyuki Ishiura
Vas-Cog Journal 11 44 - 47 2025年
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A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy. 査読
Akihiko Mitsutake, Takashi Matsukawa, Tatsuhiko Naito, Hiroyuki Ishiura, Jun Mitsui, Hiroaki Harada, Keishi Fujio, Jun Fujishiro, Harushi Mori, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2024年8月
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Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis. 査読 国際誌
Elisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, David Pellerin, Francesca Magrinelli, Riccardo Currò, Stefano Facchini, Arianna Tucci, John Hardy, Nutan Sharma, Matt C Danzi, Stephan Zuchner, Bernard Brais, Mary M Reilly, Shoji Tsuji, Henry Houlden, Andrea Cortese
The Lancet. Neurology 23 ( 7 ) 725 - 739 2024年7月
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RFC1-related disorder presenting recurrent syncope. 査読 国際誌
Yoko Tsuboyama, Akiko Takahashi, Sawako Furukawa, Asem Almansour, Masashi Hamada, Akatsuki Kubota, Jun Shimizu, Makoto Kinoshita, Chisato Fujimoto, Jun Mitsui, Takashi Matsukawa, Hiroya Naruse, Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
Journal of neurology 271 ( 7 ) 4635 - 4638 2024年3月
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SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. 査読 国際誌
Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, Tetsuya Oda, Tomoko Ikkaku, Ichiro Yokota, Yuji Takahashi, Yuta Suzuki, Takashi Matsukawa, Jun Goto, Kishin Koh, Yoshihisa Takiyama, Shinichi Morishita, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda
Annals of clinical and translational neurology 11 ( 4 ) 946 - 957 2024年2月
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Expanded clinical spectrum of oculopharyngodistal myopathy type 1 査読
Takahiro Shimizu, Hiroyuki Ishiura, Manato Hara, Shota Shibata, Atsushi Unuma, Akatsuki Kubota, Kaori Sakuishi, Kiyoharu Inoue, Jun Goto, Yuji Takahashi, Yuichiro Shirota, Masashi Hamada, Jun Shimizu, Shoji Tsuji, Tatsushi Toda
Muscle & Nerve 2022年9月
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Isolated Paravermal Hyperintensities in Neuronal Intranuclear Inclusion Disease. 査読 国際誌
Ryo Tokimura, Meiko Hashimoto, Akihiko Mitsutake, Souichi Sakai, Fumio Suzuki, Keiko Sugasawa, Chisato Fujimoto, Hiroyuki Ishiura, Tatsushi Toda
Neurology 98 ( 22 ) 938 - 939 2022年3月
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Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes. 国際誌
Theerawat Kumutpongpanich, Masashi Ogasawara, Ayami Ozaki, Hiroyuki Ishiura, Shoji Tsuji, Narihiro Minami, Shinichiro Hayashi, Satoru Noguchi, Aritoshi Iida, Ichizo Nishino, Madoka Mori-Yoshimura, Yasushi Oya, Kenjiro Ono, Toshio Shimizu, Akihiro Kawata, Shun Shimohama, Keiko Toyooka, Kaoru Endo, Shuta Toru, Oga Sasaki, Kenji Isahaya, Masanori P Takahashi, Kazuo Iwasa, Jun-Ichi Kira, Tatsuya Yamamoto, Michi Kawamoto, Tadanori Hamano, Kazuma Sugie, Nobuyuki Eura, Tomo Shiota, Mizuho Koide, Kanako Sekiya, Hideaki Kishi, Takuto Hideyama, Shigeru Kawai, Satoshi Yanagimoto, Hiroyasu Sato, Hajime Arahata, Shigeo Murayama, Kayoko Saito, Hideo Hara, Takashi Kanda, Hiroshi Yaguchi, Noboru Imai, Yuichi Kawagashira, Mitsuru Sanada, Kazuki Obara, Misako Kaido, Minori Furuta, Takashi Kurashige, Wataru Hara, Daisuke Kuzume, Mamoru Yamamoto, Jun Tsugawa, Hitaru Kishida, Naoki Ishizuka, Kohei Morimoto, Yukio Tsuji, Atsuko Tsuneyama, Atsuhiro Matsuno, Ryo Sasaki, Daigo Tamakoshi, Erika Abe, Shinichiro Yamada, Akiyuki Uzawa
JAMA neurology 78 ( 7 ) 853 - 863 2021年7月
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Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population. 国際誌
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Jun Goto, Tatsushi Toda, Shoji Tsuji
Journal of human genetics 66 ( 3 ) 237 - 241 2021年3月
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Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis. 国際誌
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Kaori Sakuishi, Kiyotaka Nakamagoe, Zenshi Miyake, Akira Tamaoka, Jun Goto, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Tatsushi Toda, Shoji Tsuji
Neurogenetics 22 ( 1 ) 11 - 17 2021年3月
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SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. 国際誌
Kishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama
BMC neurology 21 ( 1 ) 64 - 64 2021年2月
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Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature. 国際誌
Junko Kanda Kikuchi, Yu Nagashima, Tatsuo Mano, Hiroyuki Ishiura, Toshihiro Hayashi, Jun Shimizu, Takashi Matsukawa, Yaeko Ichikawa, Yuji Takahashi, Shotaro Karino, Takashi Kanbayashi, Junichi Kira, Jun Goto, Shoji Tsuji
Journal of molecular neuroscience : MN 71 ( 9 ) 1796 - 1801 2021年1月
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Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlation. 国際誌
Hiroyuki Ishiura, Shoji Tsuji
Current opinion in genetics & development 65 176 - 185 2020年12月
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Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations. 国際誌
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Tatsushi Toda, Shoji Tsuji
Amyotrophic lateral sclerosis & frontotemporal degeneration 22 ( 7-8 ) 1 - 3 2020年9月
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Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients. 査読 国際誌
Shen-Yang Lim, Hiroyuki Ishiura, Norlisah Ramli, Shota Shibata, M Asem Almansour, Ai Huey Tan, Henry Houlden, Anthony E Lang, Shoji Tsuji
Parkinsonism & related disorders 74 25 - 27 2020年4月