論文 - 石浦 浩之
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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
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An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support. 査読 国際誌
Akiko Uchino, Makiko Nagai, Naomi Kanazawa, Masaaki Ichinoe, Nobuyuki Yanagisawa, Kaori Adachi, Eiji Nanba, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Kinuko Suzuki, Shigeo Murayama, Kazutoshi Nishiyama
Neuropathology : official journal of the Japanese Society of Neuropathology 40 ( 4 ) 379 - 388 2020年3月
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A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia. 査読
Masanori Kurihara, Hiroyuki Ishiura, Taro Bannai, Jun Mitsui, Jun Yoshimura, Shinichi Morishita, Toshihiro Hayashi, Jun Shimizu, Tatsushi Toda, Shoji Tsuji
Internal medicine (Tokyo, Japan) 59 ( 6 ) 839 - 842 2020年3月
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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. 査読 国際誌
Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, Wei Qu, Koichiro Doi, M Asem Almansour, Junko Kanda Kikuchi, Makiko Taira, Jun Mitsui, Yuji Takahashi, Yaeko Ichikawa, Tatsuo Mano, Atsushi Iwata, Yasuo Harigaya, Miho Kawabe Matsukawa, Takashi Matsukawa, Masaki Tanaka, Yuichiro Shirota, Ryo Ohtomo, Hisatomo Kowa, Hidetoshi Date, Aki Mitsue, Hiroyuki Hatsuta, Satoru Morimoto, Shigeo Murayama, Yasushi Shiio, Yuko Saito, Akihiko Mitsutake, Mizuho Kawai, Takuya Sasaki, Yusuke Sugiyama, Masashi Hamada, Gaku Ohtomo, Yasuo Terao, Yoshihiko Nakazato, Akitoshi Takeda, Yoshio Sakiyama, Yumi Umeda-Kameyama, Jun Shinmi, Katsuhisa Ogata, Yutaka Kohno, Shen-Yang Lim, Ai Huey Tan, Jun Shimizu, Jun Goto, Ichizo Nishino, Tatsushi Toda, Shinichi Morishita, Shoji Tsuji
Nature genetics 51 ( 8 ) 1222 - 1232 2019年8月
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Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. 査読 国際誌
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto, Tatsushi Toda, Shoji Tsuji
Journal of neurology, neurosurgery, and psychiatry 90 ( 5 ) 537 - 542 2019年5月
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Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations. 査読 国際誌
Hiroya Naruse, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Hiroki Takano, Jun Goto, Tatsushi Toda, Shoji Tsuji
Neurogenetics 20 ( 2 ) 65 - 71 2019年5月
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Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion. 査読 国際誌
Yuta Ichinose, Hiroyuki Ishiura, Masaki Tanaka, Jun Yoshimura, Koichiro Doi, Takako Umeda, Hajime Yamauchi, Mai Tsuchiya, Kishin Koh, Nobuo Yamashiro, Jun Mitsui, Jun Goto, Hiroshi Onishi, Toshihisa Ohtsuka, Kazumasa Shindo, Shinichi Morishita, Shoji Tsuji, Yoshihisa Takiyama
Parkinsonism & related disorders 61 57 - 63 2019年4月
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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 査読
Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S
Nature genetics 50 ( 4 ) 581 - 590 2018年4月
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Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation 査読
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Hidetoshi Date, Yuji Takahashi, Takashi Matsukawa, Masaki Tanaka, Akiko Ishii, Akira Tamaoka, Keiichi Hokkoku, Masahiro Sonoo, Mari Segawa, Yoshikazu Ugawa, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto, Shoji Tsuji
NEUROBIOLOGY OF AGING 61 255.e9 - 255.e16 2018年1月
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Partial duplication of DHH causes minifascicular neuropathy A novel mutation detection of DHH 査読
Naoko Saito Sato, Risa Maekawa, Hiroyuki Ishiura, Jun Mitsui, Hiroya Naruse, Shin-ichi Tokushige, Kazuma Sugie, Genshu Tate, Jun Shimizu, Jun Goto, Shoji Tsuji, Yasushi Shiio
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY 4 ( 6 ) 415 - 421 2017年6月
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Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum. 査読 国際誌
Kagari Koshi Mano, Takashi Matsukawa, Jun Mitsui, Hiroyuki Ishiura, Shin-Ichi Tokushige, Yuji Takahashi, Naoko Saito Sato, Fumiko Kusunoki Nakamoto, Yaeko Ichikawa, Yu Nagashima, Yasuo Terao, Jun Shimizu, Masashi Hamada, Yoshikazu Uesaka, Genko Oyama, Go Ogawa, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Jun Goto
Neurology. Genetics 2 ( 1 ) e48 2016年2月
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Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72 査読
Hiroyuki Ishiura, Shoji Tsuji
JOURNAL OF NEUROGENETICS 29 ( 2-3 ) 85 - 94 2015年
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Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses 査読
Hiroyuki Ishiura, Yuji Takahashi, Toshihiro Hayashi, Kayoko Saito, Hirokazu Furuya, Mitsunori Watanabe, Miho Murata, Mikiya Suzuki, Akira Sugiura, Setsu Sawai, Kazumoto Shibuya, Naohisa Ueda, Yaeko Ichikawa, Ichiro Kanazawa, Jun Goto, Shoji Tsuji
JOURNAL OF HUMAN GENETICS 59 ( 3 ) 163 - 172 2014年3月
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ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19 査読
Yuji Takahashi, Yoko Fukuda, Jun Yoshimura, Atsushi Toyoda, Kari Kurppa, Hiroyoko Moritoyo, Veronique V. Belzil, Patrick A. Dion, Koichiro Higasa, Koichiro Doi, Hiroyuki Ishiura, Jun Mitsui, Hidetoshi Date, Budrul Ahsan, Takashi Matsukawa, Yaeko Ichikawa, Takashi Moritoyo, Mayumi Ikoma, Tsukasa Hashimoto, Fumiharu Kimura, Shigeo Murayama, Osamu Onodera, Masatoyo Nishizawa, Mari Yoshida, Naoki Atsuta, Gen Sobue, Jennifer A. Fifita, Kelly L. Williams, Ian P. Blair, Garth A. Nicholson, Paloma Gonzalez-Perez, Robert H. Brown, Masahiro Nomoto, Klaus Elenius, Guy A. Rouleau, Asao Fujiyama, Shinichi Morishita, Jun Goto, Shoji Tsuji
AMERICAN JOURNAL OF HUMAN GENETICS 93 ( 5 ) 900 - 905 2013年11月
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Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy 査読
Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Yoko Fukuda, Yaeko Ichikawa, Hidetoshi Date, Budrul Ahsan, Yasuo Nakahara, Yoshio Momose, Yuji Takahashi, Atsushi Iwata, Jun Goto, Yorihiro Yamamoto, Makiko Komata, Katsuhiko Shirahige, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hiroshi Takashima, Ryozo Kuwano, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Hiroyuki Soma, Ichiro Yabe, Hidenao Sasaki, Masashi Aoki, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Takamichi Hattori, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Tomoyoshi Kondo, Shigeo Murayama, Nobutaka Hattori, Mitsutoshi Yamamoto, Miho Murata, Wataru Satake, Tatsushi Toda, Alexandra Duerr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wuellner, Garth Nicholson, Sid Gilman, Clifford W. Shults, Caroline M. Tanner, Walter A. Kukull, Virginia M. -Y. Lee, Eliezer Masliah, Phillip A. Low, Paola Sandroni, John Q. Trojanowski, Laurie Ozelius, Tatiana Foroud, Shoji Tsuji
NEW ENGLAND JOURNAL OF MEDICINE 369 ( 3 ) 233 - 244 2013年7月
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C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan 査読
Hiroyuki Ishiura, Yuji Takahashi, Jun Mitsui, Sohei Yoshida, Tameko Kihira, Yasumasa Kokubo, Shigeki Kuzuhara, Laura P. W. Ranum, Tomoko Tamaoki, Yaeko Ichikawa, Hidetoshi Date, Jun Goto, Shoji Tsuji
ARCHIVES OF NEUROLOGY 69 ( 9 ) 1154 - 1158 2012年9月
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The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement 査読
Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin Izumi, Koji Fujita, Kouji Maeda, Satoshi Goto, Hidetaka Koizumi, Ryoma Morigaki, Masako Ikemura, Naoko Yamauchi, Shigeo Murayama, Garth A. Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji, Shoji Tsujii
AMERICAN JOURNAL OF HUMAN GENETICS 91 ( 2 ) 320 - 329 2012年8月
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Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type 査読
Makiko Taira, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Toshihiro Hayashi, Jun Shimizu, Takashi Matsukawa, Naoko Saito, Kazumasa Okada, Sadatoshi Tsuji, Hiromasa Sawamura, Shiro Amano, Jun Goto, Shoji Tsuji
NEUROGENETICS 13 ( 3 ) 237 - 243 2012年8月
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Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1 査読
Hiroyuki Ishiura, Yoko Fukuda, Jun Mitsui, Yasuo Nakahara, Budrul Ahsan, Yuji Takahashi, Yaeko Ichikawa, Jun Goto, Tetsuo Sakai, Shoji Tsuji
NEUROGENETICS 12 ( 2 ) 117 - 121 2011年5月
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TRPM7 Is Not Associated With Amyotrophic Lateral Sclerosis-Parkinsonism Dementia Complex in the Kii Peninsula of Japan 査読
Kenju Hara, Yasumasa Kokubo, Hiroyuki Ishiura, Yuko Fukuda, Akinori Miyashita, Ryozo Kuwano, Ryogen Sasaki, Jun Goto, Masatoyo Nishizawa, Shigeki Kuzuhara, Shoji Tsuji
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 153B ( 1 ) 310 - 313 2010年1月
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RESPONSE OF ANTI-NMDA RECEPTOR ENCEPHALITIS WITHOUT TUMOR TO IMMUNOTHERAPY INCLUDING RITUXIMAB 査読
H. Ishiura, S. Matsuda, M. Higashihara, M. Hasegawa, A. Hida, R. Hanajima, T. Yamamoto, J. Shimizu, J. Dalmau, S. Tsuji
NEUROLOGY 71 ( 23 ) 1921 - 1923 2008年12月
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Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis 査読
Yuji Takahashi, Naomi Seki, Hiroyuki Ishiura, Jun Mitsui, Takashi Matsukawa, Atsushi Kishino, Osamu Onodera, Masashi Aoki, Nobuyuki Shimozawa, Shigeo Murayama, Yasuto Itoyama, Yasuyuki Suzuki, Gen Sobue, Masatoyo Nishizawa, Jun Goto, Shoji Tsuji
ARCHIVES OF NEUROLOGY 65 ( 10 ) 1326 - 1332 2008年10月
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Lymphomatoid granulomatosis involving central nervous system successfully treated with rituximab alone 査読
Hiroyuki Ishiura, Masato Morikawa, Masashi Hamada, Takuro Watanabe, Shinichi Kako, Shigeru Chiba, Toru Motokura, Akira Hangaishi, Junji Shibahara, Masaaki Akahane, Jun Goto, Shin Kwak, Mineo Kurokawa, Shoji Tsuji
ARCHIVES OF NEUROLOGY 65 ( 5 ) 662 - 665 2008年5月
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Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy. 国際誌
Kenta Orimo, Takashi Matsukawa, Akihiko Mitsutake, Takusei Cho, Hiroya Naruse, Yoshio Sakiyama, Kensho Sumi, Naohiro Uchio, Akane Satake, Yoshihisa Takiyama, Takuya Matsushita, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
Journal of the neurological sciences 472 123486 - 123486 2025年4月
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In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy. 国際誌
Takashi Matsukawa, Atsushi Sudo, Toshiyuki Kakumoto, Akihito Hao, Mitsuhiro Kainaga, Hyangri Chang, Tatsuo Mano, Hiroyuki Ishiura, Jun Mitsui, Toshihiro Hayashi, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
Human genome variation 12 ( 1 ) 5 - 5 2025年2月
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Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia.
Akihiko Mitsutake, Takashi Matsukawa, Rimi Hino, Go Fujino, Yuto Sakai, Jun Mitsui, Hiroyuki Ishiura, Nobue K Iwata, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2025年2月
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The potential mechanism maintaining transactive response DNA binding protein 43 kDa in the mouse stroke model. 国際誌
Yuting Bian, Yusuke Fukui, Ricardo Satoshi Ota-Elliott, Xinran Hu, Hongming Sun, Zhihong Bian, Yun Zhai, Haibo Yu, Xiao Hu, Hangping An, Hongzhi Liu, Ryuta Morihara, Hiroyuki Ishiura, Toru Yamashita
Neuroscience research 2025年1月
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Yuka Shibata, Hyangri Chang, Katsuya Nakamura, Shinichiro Yamada, Masaaki Matsushima, Kazumasa Saigoh, Hiroyuki Ishiura, Yoshiki Sekijima, Hirofumi Maruyama, Takeshi Ikeuchi, Kazuko Hasegawa, Masashi Aoki, Masahisa Katsuno, Tatsushi Toda, Ichiro Yabe
Rinsho Shinkeigaku 2025年
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A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability. 国際誌
Akihiko Mitsutake, Mizuho Kawai, Kenta Orimo, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Hideki Nakajima, Hiroyuki Murai, Shoji Tsuji, Jun Goto, Nobue K Iwata
Cerebellum (London, England) 24 ( 1 ) 20 - 20 2024年12月
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A Case of Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy.
Ryoji Miyano, Akihiko Mitsutake, Takashi Matsukawa, Satomi Obata, Hiroaki Koyama, Yudai Nakai, Hiroyuki Ishiura, Akatsuki Kubota, Jun Shimizu, Kaori Sakuishi, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2024年12月
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Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis. 国際誌
So Okubo, Hiroya Naruse, Hiroyuki Ishiura, Atsushi Sudo, Kayoko Esaki, Jun Mitsui, Takashi Matsukawa, Wataru Satake, Peter Greimel, Nanoka Shingai, Yasushi Oya, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda
Journal of neurology 272 ( 1 ) 36 - 36 2024年12月
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Subacute Upper Motor Neuron Dysfunction Possibly Associated with the Anti-GM1 Autoantibody: A Case Report.
So Okubo, Meiko Maeda, Kazuto Katsuse, Hiroyuki Ishiura, Yuichiro Shirota, Masashi Hamada, Wataru Satake, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2024年11月
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Clinical phenotypes and CSF phospho-tau in NOTCH2NLC-related neuronal intranuclear inclusion disease(タイトル和訳中)
Kurihara Masanori, Sengoku Renpei, Morimoto Satoru, Mitsutake Akihiko, Ishiura Hiroyuki, Higashihara Mana, Tokumaru Aya Midori, Kanemaru Kazutomi, Saito Yuko, Murayama Shigeo, Iwata Atsushi
臨床神経学 64 ( Suppl. ) S265 - S265 2024年10月
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Clinical and genetic analysis of Japanese patients with SPG7(タイトル和訳中)
Mitsutake Akihiko, Hino Rimi, Sakai Yuto, Matsukawa Takashi, Mitsui Jun, Ishiura Hiroyuki, Iwata Nobue K., Tsuji Shoji, Toda Tatsushi
臨床神経学 64 ( Suppl. ) S372 - S372 2024年10月
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当院における2家系のSCAR8の検討
柚木 太淳, 松岡 千加, 小坂田 陽介, 中野 由美子, 武本 麻美, 森原 隆太, 山下 徹, 石浦 浩之
臨床神経学 64 ( 10 ) 751 - 751 2024年10月
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ATXN2遺伝子のCAGリピートをホモ接合性に有し同胞と臨床病型が異なりパーキンソニズムと痙性を呈した症例
小坂田 陽介, 松岡 千加, 中田 有美, 佐々木 諒, 中野 由美子, 柚木 太淳, 武本 麻美, 森原 隆太, 山下 徹, 石浦 浩之
臨床神経学 64 ( 10 ) 755 - 755 2024年10月
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髄液中抗MOG抗体を指標にIVIGによる維持療法を行った再発性MOGADの一例
池上 憲, 佐々木 諒, 石田 将大, 樹下 明典, 平 祐貴, 小坂田 陽介, 武本 麻美, 森原 隆太, 柚木 太淳, 山下 徹, 石浦 浩之
神経免疫学 29 ( 1 ) 262 - 262 2024年10月
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レカネマブ治療に伴うAPOE遺伝子型検査の実際
森原 隆太, 小坂田 陽介, 池上 憲, 平 祐貴, 石田 将大, 樹下 明典, 柚木 太淳, 武本 麻美, 野村 恵美, 河野 智仁, 松岡 千加, 山下 徹, 加藤 芙美乃, 深野 智華, 平沢 晃, 石浦 浩之
Dementia Japan 38 ( 4 ) 681 - 681 2024年10月
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Hyperdense Vessel Sign in Brain Computed Tomography as an Early Indication of Reversible Cerebral Vasoconstriction Syndrome: A Case Report.
Akihiko Mitsutake, Tatsuo Mano, Mizuho Kawai, Ryo Kurokawa, Hiroyuki Ishiura, Kaori Sakuishi, Harushi Mori, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2024年9月
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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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Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, Hatsue Ishibashi-Ueda, Tsutomu Tomita, Michio Noguchi, Ayako Takahashi, Yu-ichi Goto, Sumiko Yoshida, Kotaro Hattori, Ryo Matsumura, Aritoshi Iida, Yutaka Maruoka, Hiroyuki Gatanaga, Akihiko Shimomura, Masaya Sugiyama, Satoshi Suzuki, Kengo Miyo, Yoichi Matsubara, Akihiro Umezawa, Kenichiro Hata, Tadashi Kaname, Kouichi Ozaki, Haruhiko Tokuda, Hiroshi Watanabe, Shumpei Niida, Eisei Noiri, Koji Kitajima, Yosuke Omae, Reiko Miyahara, Hideyuki Shimanuki, Yosuke Kawai, Katsushi Tokunaga, Tatsushi Toda, Shoji Tsuji
Journal of Human Genetics 2024年7月
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A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes. 査読 国際誌
Hiroya Naruse, Chifumi Iseki, Jun Mitsui, Jun Miki, Hikaru Nagasawa, Katsuro Kurokawa, Ryota Kobayashi, Hiroyasu Sato, Jun Goto, Wataru Satake, Hiroyuki Ishiura, Shoji Tsuji, Yasuyuki Ohta, Tatsushi Toda
Amyotrophic lateral sclerosis & frontotemporal degeneration 1 - 4 2024年7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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Treatment of cryptogenic new-onset refractory status epilepticus (C-NORSE) with tocilizumab: A case report. 査読
Yumiko Nakamura, Masayuki Ueda, Satoshi Kodama, Tomohiko Kimura, Yuichiro Shirota, Masashi Hamada, Hiroyuki Ishiura, Takahiro Iizuka, Tatsushi Toda
Internal medicine (Tokyo, Japan) 2024年4月
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Protective effect of scallop-derived plasmalogen against vascular dysfunction, via the pSTAT3/PIM1/NFATc1 axis, in a novel mouse model of Alzheimer's disease with cerebral hypoperfusion. 査読 国際誌
Yun Zhai, Ryuta Morihara, Tian Feng, Xinran Hu, Yusuke Fukui, Zhihong Bian, Yuting Bian, Haibo Yu, Hongming Sun, Mami Takemoto, Yumiko Nakano, Taijun Yunoki, Ying Tang, Hiroyuki Ishiura, Toru Yamashita
Brain research 1828 148790 - 148790 2024年4月
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Neuroprotective effect of, a flavonoid, sudachitin in mice stroke model. 査読 国際誌
Ricardo Satoshi Ota-Elliott, Yusuke Fukui, Yuting Bian, Zhihong Bian, Xinran Hu, Hongming Sun, Haibo Yu, Ryuta Morihara, Hiroyuki Ishiura, Toru Yamashita
Brain research 1827 148745 - 148745 2024年3月
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Proximal sensory neuropathy and cerebellar ataxia as presenting symptoms of NOTCH2NLC-related neuronal intranuclear inclusion disease. 査読 国際誌
Kai Funakawa, Masanori Kurihara, Kensuke Takahashi, Mana Higashihara, Manato Hara, Akihiko Mitsutake, Hiroyuki Ishiura, Aya Midori Tokumaru, Masahiro Sonoo, Shigeo Murayama, Yuko Saito, Atsushi Iwata
Journal of the neurological sciences 458 122915 - 122915 2024年2月
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CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy. 査読 国際誌
Yan Shi, Chunyan Cao, Yiheng Zeng, Yuanliang Ding, Long Chen, Fuze Zheng, Xuejiao Chen, Fanggui Zhou, Xiefeng Yang, Jinjing Li, Liuqing Xu, Guorong Xu, Minting Lin, Hiroyuki Ishiura, Shoji Tsuji, Ning Wang, Zhiqiang Wang, Wan-Jin Chen, Kang Yang
Journal of genetics and genomics = Yi chuan xue bao 51 ( 2 ) 184 - 196 2024年2月
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The Japan MSA registry: A multicenter cohort study of multiple system atrophy 査読
Ayaka Chikada, Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda, Hidehiro Mizusawa, Yuji Takahashi, Masahisa Katsuno, Kazuhiro Hara, Osamu Onodera, Tomohiko Ishihara, Masayoshi Tada, Satoshi Kuwabara, Atsuhiko Sugiyama, Yoshitaka Yamanaka, Ryosuke Takahashi, Nobukatsu Sawamoto, Yusuke Sakato, Tomoyuki Ishimoto, Ritsuko Hanajima, Yasuhiro Watanabe, Hiroshi Takigawa, Tadashi Adachi, Koji Abe, Toru Yamashita, Hiroshi Takashima, Keiko Higashi, Junichi Kira, Ichiro Yabe, Masaaki Matsushima, Katsuhisa Ogata, Kinya Ishikawa, Yoichiro Nishida, Taro Ishiguro, Kokoro Ozaki, Tetsuya Nagata, Shoji Tsuji
Neurology and Clinical Neuroscience 2024年
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A novel de novo disease-causing variant in ATL1 in a pediatric patient with spastic paraplegia
Ayumi Nakamura, Hiroya Naruse, Akihiko Mitsutake, Jun Mitsui, Shinichi Morishita, Mie Iwakoshi, Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
Neurology and Clinical Neuroscience 2024年
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神経伝導検査と免疫固定電気泳動法からPOEMS症候群と診断し得た59歳男性例 査読
時村 瞭, 原 涼, 久保田 暁, 石浦 浩之, 小玉 聡, 代田 悠一郎, 濱田 雅, 戸田 達史
臨床神経生理学 51 ( 6 ) 651 - 657 2023年12月
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Case Report: Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2. 査読
Saki Nakashima, Masashi Hamada, Tomohiko Kimura, Shuichi Tanifuji, Akiko Takahashi, Daiki Yashita, Yu Kakimoto, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda
Internal medicine (Tokyo, Japan) 63 ( 12 ) 1807 - 1812 2023年11月
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Protective Effects of Rivaroxaban on White Matter Integrity and Remyelination in a Mouse Model of Alzheimer's Disease Combined with Cerebral Hypoperfusion. 査読 国際誌
Zhihong Bian, Xinran Hu, Xia Liu, Haibo Yu, Yuting Bian, Hongming Sun, Yusuke Fukui, Ryuta Morihara, Hiroyuki Ishiura, Toru Yamashita
Journal of Alzheimer's disease : JAD 96 ( 2 ) 609 - 622 2023年10月
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脊髄性筋萎縮症患者7名に対するリスジプラムの治療効果
山下 徹, 柚木 太淳, 中田 有美, 松岡 千加, 佐々木 涼, 田所 功, 中野 由美子, 武本 麻美, 森原 隆太, 石浦 浩之
臨床神経学 63 ( Suppl. ) S215 - S215 2023年9月
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Foix-Chavany-Marie症候群を呈した持続性部分てんかんの一例
佐々木 諒, 柚木 太淳, 中田 有美, 松岡 千加, 田所 功, 中野 由美子, 武本 麻美, 森原 隆太, 山下 徹, 石浦 浩之
臨床神経学 63 ( 9 ) 620 - 620 2023年9月
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抗AQP4抗体陽性のNMOsd患者の髄液におけるIL-6測定の有用性の検討
柚木 太淳, 中田 有美, 松岡 千加, 田所 功, 佐々木 諒, 中野 由美子, 武本 麻実, 森原 隆太, 山下 徹, 石浦 浩之
臨床神経学 63 ( Suppl. ) S298 - S298 2023年9月
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70代以降意識減損・消失発作が増悪し,抗てんかん薬の調整に難渋した良性成人型家族性ミオクローヌスてんかん1型の80歳女性例
高橋 健祐, 栗原 正典, 東原 真奈, 松平 敬史, 広吉 祐子, 松川 美穂, 石浦 浩之, 岩田 淳
臨床神経学 63 ( 9 ) 604 - 604 2023年9月
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当院で経験した脊髄小脳変性症7型2家系の臨床的検討
吉田 千晴, 小松 大樹, 馬場 智也, 後藤 良司, 首藤 篤史, 松川 敬志, 石浦 浩之, 三井 純, 中森 知毅, 市川 弥生子, 後藤 順, 中村 奈津子, 角田 和繁, 小畑 亮, 澤村 裕正, 戸田 達史
臨床神経学 63 ( Suppl. ) S298 - S298 2023年9月
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A Case of Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1. 査読
Naoki Takegami, Takashi Matsukawa, Masashi Hamada, Shuichi Tanifuji, Takayuki Tamura, Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura, Jun Mitsui, Kaori Sakuishi, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 63 ( 7 ) 999 - 1004 2023年8月
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Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease. 査読
Nanaka Yamaguchi-Takegami, Akiko Takahashi, Jun Mitsui, Yusuke Sugiyama, Ayaka Chikada, Kristine Joyce L Porto, Naoki Takegami, Kaori Sakuishi, Hiroyuki Ishiura, Kaoru Yamada, Jun Shimizu, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 63 ( 6 ) 861 - 865 2023年8月
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A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant 査読 国際誌
Kenta Orimo, Toshiyuki Kakumoto, Ryo Hara, Ryoji Goto, Hiroyuki Ishiura, Jun Mitsui, Chiharu Yoshida, Yoshikazu Uesaka, Yuta Suzuki, Shinichi Morishita, Wataru Satake, Shoji Tsuji, Tatsushi Toda
Journal of the Neurological Sciences 451 120732 - 120732 2023年7月
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Anti-neurofascin 155 Antibody-positive Neuropathy in a Human Immunodeficiency Virus-infected Patient. 査読
So Okubo, Tatsuo Mano, Atsushi Sudo, Ryoji Goto, Satoka Yano, Manato Hara, Hiroyuki Ishiura, Wataru Satake, Shintaro Yanagimoto, Hidenori Ogata, Tatsushi Toda
Internal medicine (Tokyo, Japan) 63 ( 4 ) 565 - 569 2023年6月
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Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution. 査読 国際誌
Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir S N AlDin, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri
Journal of movement disorders 16 ( 3 ) 231 - 247 2023年6月
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Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability. 査読 国際誌
Christel Depienne, Arn M J M van den Maagdenberg, Theresa Kühnel, Hiroyuki Ishiura, Mark A Corbett, Shoji Tsuji
Epilepsia 64 Suppl 1 S31-S38 2023年6月
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Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy. 査読 国際誌
Toshiyuki Kakumoto, Takashi Matsukawa, Hiroyuki Ishiura, Harushi Mori, Shoji Tsuji, Tatsushi Toda
Annals of clinical and translational neurology 10 ( 7 ) 1230 - 1238 2023年5月
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Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1. 査読 国際誌
Hiroya Naruse, So Okubo, Atsushi Sudo, Jun Mitsui, Takashi Mikata, Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
Journal of the peripheral nervous system : JPNS 28 ( 3 ) 518 - 521 2023年5月
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Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies. 査読 国際誌
Norifumi Kawamoto, Yuichi Hamada, Shunsuke Kobayashi, Hiroya Naruse, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji, Masahiro Sonoo, Tatsushi Toda
Journal of the peripheral nervous system : JPNS 28 ( 3 ) 513 - 517 2023年5月
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Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy. 国際誌
Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Kristine Joyce Porto, Yasuhiro Hayashi, Atsushi Yamashita, Yoshio Kusakabe, Takashi Matsukawa, Hiroyuki Ishiura, Tsutomu Yasuda, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yoshio Momose, Yuji Takahashi, Tatsushi Toda, Rikifumi Ohta, Jun Yoshimura, Shinichi Morishita, Emil K Gustavsson, Darren Christy, Melissa Maczis, Matthew J Farrer, Han-Joon Kim, Sung-Sup Park, Beomseok Jeon, Jin Zhang, Weihong Gu, Sonja W Scholz, Andrew B Singleton, Henry Houlden, Ichiro Yabe, Hidenao Sasaki, Masaaki Matsushima, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Ken Yamamoto, Mihoko Shimada, Taku Miyagawa, Yosuke Kawai, Nao Nishida, Katsushi Tokunaga, Alexandra Dürr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wüllner, Caroline M Tanner, Walter A Kukull, Virginia M-Y Lee, Eliezer Masliah, Phillip A Low, Paola Sandroni, Laurie Ozelius, Tatiana Foroud, Shoji Tsuji
medRxiv : the preprint server for health sciences 2023年5月
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A case of intravascular lymphoma presenting with a lesion in the splenium of the corpus callosum. 査読 国際誌
Haruka Masuzawa, Fumio Suzuki, Shiori Amemiya, Kenta Orimo, Hiroyuki Ishiura, Ryo Hara, Tatsushi Toda, Teruo Nakazawa, Akira Honda, Mariko Tanaka, Munetoshi Hinata, Osamu Abe
Radiology case reports 18 ( 5 ) 1929 - 1932 2023年5月
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High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. 査読 国際誌
Jun Mitsui, Takashi Matsukawa, Yukari Uemura, Takuya Kawahara, Ayaka Chikada, Kristine Joyce L Porto, Hiroya Naruse, Masaki Tanaka, Hiroyuki Ishiura, Tatsushi Toda, Haruko Kuzuyama, Mari Hirano, Ikue Wada, Toshio Ga, Takashi Moritoyo, Yuji Takahashi, Hidehiro Mizusawa, Kinya Ishikawa, Takanori Yokota, Satoshi Kuwabara, Nobukatsu Sawamoto, Ryosuke Takahashi, Koji Abe, Tomohiko Ishihara, Osamu Onodera, Dai Matsuse, Ryo Yamasaki, Jun-Ichi Kira, Masahisa Katsuno, Ritsuko Hanajima, Katsuhisa Ogata, Hiroshi Takashima, Masaaki Matsushima, Ichiro Yabe, Hidenao Sasaki, Shoji Tsuji
EClinicalMedicine 59 101920 - 101920 2023年5月
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Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease. 査読 国際誌
Akihiko Mitsutake, Takashi Matsukawa, Atsushi Iwata, Hiroyuki Ishiura, Jun Mitsui, Harushi Mori, Takashi Toya, Akira Honda, Mineo Kurokawa, Norio Sakai, Shoji Tsuji, Tatsushi Toda
Brain & development 45 ( 7 ) 408 - 412 2023年4月
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Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder. 招待 査読 国際誌
Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
Journal of human genetics 68 ( 3 ) 169 - 174 2023年3月
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The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation. 査読
Naoki Takegami, Akihiko Mitsutake, Tatsuo Mano, Yukako Shintani-Domoto, Atsushi Unuma, Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura, Kaori Sakuishi, Masahiko Ando, Haruo Yamauchi, Minoru Ono, Shinichi Morishita, Jun Mitsui, Jun Shimizu, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 62 ( 19 ) 2883 - 2887 2023年2月
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Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease. 査読 国際誌
Masanori Kurihara, Tatsuo Mano, Fumihiro Eto, Ikuko Yao, Kenichiro Sato, Gaku Ohtomo, Taro Bannai, Shota Shibata, Hiroyuki Ishiura, Masako Ikemura, Tomoyasu Matsubara, Maho Morishima, Yuko Saito, Shigeo Murayama, Tatsushi Toda, Mitsutoshi Setou, Atsushi Iwata
Neurobiology of disease 177 105989 - 105989 2023年1月
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Hirokazu Uchigami, Masashi Hamada, Hirotaka Maekawa, Hiroyuki Ishiura, Satoshi Kodama, Yuichiro Shirota, Miwako Takahashi, Toshimitsu Momose, Tatsushi Toda
Internal Medicine 63 ( 2 ) 333 - 336 2023年
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A novel homozygous nonsense variant of LMF1 in pregnancy-induced hypertriglyceridemia with acute pancreatitis. 査読 国際誌
Masaki Tanaka, Satoru Takase, Hiroyuki Ishiura, Toshimasa Yamauchi, Sachiko Okazaki, Hiroaki Okazaki
Journal of clinical lipidology 17 ( 3 ) 327 - 331 2023年
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CSF P-Tau181 and Other Biomarkers in Patients With Neuronal Intranuclear Inclusion Disease 査読 国際誌
Masanori Kurihara, Hiroki Komatsu, Renpei Sengoku, Mari Shibukawa, Satoru Morimoto, Tomoyasu Matsubara, Akira Arakawa, Makoto Orita, Kenji Ishibashi, Akihiko Mitsutake, Shota Shibata, Hiroyuki Ishiura, Kaori Adachi, Kensuke Ohse, Keiko Hatano, Ryoko Ihara, Mana Higashihara, Yasushi Nishina, Aya Midori Tokumaru, Kenji Ishii, Yuko Saito, Shigeo Murayama, Kazutomi Kanemaru, Atsushi Iwata
Neurology 100 ( 10 ) 10.1212/WNL.0000000000201647 - 10.1212/WNL.0000000000201647 2022年12月
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APOE Alleles With Tau and Aβ Pathology in Patients With Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex in the Kii Peninsula. 査読 国際誌
Ryogen Sasaki, Satoru Morimoto, Fumiko Ozawa, Hideyuki Okano, Mari Yoshida, Hiroyuki Ishiura, Shoji Tsuji, Shigeki Kuzuhara, Yasumasa Kokubo
Neurology 99 ( 22 ) e2437-e2442 2022年11月
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Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report. 査読 国際誌
Ryota Kobayashi, Hiroya Naruse, Shinobu Kawakatsu, Chifumi Iseki, Yuya Suzuki, Shingo Koyama, Daichi Morioka, Hiroyuki Ishiura, Jun Mitsui, Yasuyuki Ohta, Shoji Tsuji, Tatsushi Toda, Koichi Otani
BMC neurology 22 ( 1 ) 406 - 406 2022年11月
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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 査読
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo M Santorelli, Mustafa Sahin, Craig Blackstone, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari
Brain 2022年10月
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A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity. 査読 国際誌
Yuka Hama, Hidetoshi Date, Akiko Fujimoto, Ayano Matsui, Hiroyuki Ishiura, Jun Mitsui, Toshiyuki Yamamoto, Shoji Tsuji, Hidehiro Mizusawa, Yuji Takahashi
Cerebellum (London, England) 2022年10月
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Asymptomatic myocardial infarction in a patient with myotonic dystrophy type 1. 査読
Yuka Seki, Takanobu Yamada, Arihiro Kiyosue, Koichi Kimura, Masae Uehara, Masaru Hatano, Takayoshi Sasako, Yuichiro Shirota, Atsushi Sudo, Hiroyuki Ishiura, Tatsushi Toda, Toshimasa Yamauchi, Issei Komuro
Journal of cardiology cases 26 ( 4 ) 248 - 251 2022年10月
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Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease. 査読 国際誌
Takashi Matsukawa, Kristine Joyce L Porto, Jun Mitsui, Ayaka Chikada, Hiroyuki Ishiura, Yuji Takahashi, Fumiko Kusunoki Nakamoto, Tomonari Seki, Yasushi Shiio, Tatsushi Toda, Shoji Tsuji
Cerebellum (London, England) 2022年9月
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A Case of Copper Deficiency in Wilson's Disease with a Normal Zinc Value. 査読
Masayuki Ueda, Kazuto Katsuse, Toshiyuki Kakumoto, Satoshi Kobayashi, Hiroyuki Ishiura, Jun Mitsui, Tatsushi Toda
Internal medicine (Tokyo, Japan) 62 ( 7 ) 1073 - 1076 2022年8月
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Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations. 査読 国際誌
Hiroki Hongo, Satoru Miyawaki, Yu Teranishi, Jun Mitsui, Hiroto Katoh, Daisuke Komura, Kinya Tsubota, Takashi Matsukawa, Masakatsu Watanabe, Masakazu Kurita, Jun Yoshimura, Shogo Dofuku, Kenta Ohara, Daiichiro Ishigami, Atsushi Okano, Motoi Kato, Fumihiko Hakuno, Ayaka Takahashi, Akiko Kunita, Hiroyuki Ishiura, Masahiro Shin, Hirofumi Nakatomi, Toshitaka Nagao, Hiroshi Goto, Shin-Ichiro Takahashi, Tetsuo Ushiku, Shumpei Ishikawa, Mutsumi Okazaki, Shinichi Morishita, Shoji Tsuji, Nobuhito Saito
Angiogenesis 26 ( 1 ) 37 - 52 2022年7月
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Keiko Hatano, Hidetoshi Date, Hiroyuki Ishiura, Takashi Matsukawa, Masaki Tanaka, Jun Mitsui, Jun Goto, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji
Neurology and Clinical Neuroscience 10 ( 4 ) 210 - 217 2022年7月
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Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible. 査読 国際誌
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Fumikazu Kojima, Yutaka Noguchi, Takahiro Hobara, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Biomedicines 10 ( 7 ) 2022年6月
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Hiroki Yagi, Norifumi Takeda, Eisuke Amiya, Nana Akiyama, Hyangri Chang, Hiroyuki Ishiura, Jiro Sato, Hiroshi Akazawa, Hiroyuki Morita, Issei Komuro
American Journal of Medical Genetics Part A 2022年5月
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<scp>TDP</scp> ‐43 Proteinopathy Presenting with Typical Symptoms of Parkinson's Disease 査読
Rika Yamashita, Goichi Beck, Yuki Yonenobu, Kimiko Inoue, Akihiko Mitsutake, Hiroyuki Ishiura, Masato Hasegawa, Shigeo Murayama, Hideki Mochizuki
Movement Disorders 2022年5月
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Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan. 査読 国際誌
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Ruriko Kitao, Takehiko Morimoto, Takaki Taniguchi, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Annals of clinical and translational neurology 9 ( 5 ) 747 - 755 2022年5月
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Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation. 査読 国際誌
Takahiro Itamiya, Toshihiko Komai, Hiroko Kanda, Yasuo Nagafuchi, Hyangri Chang, Shota Shibata, Hiroyuki Ishiura, Hirofumi Shoda, Tatsushi Toda, Keishi Fujio
Clinical rheumatology 2022年3月
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Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes. 査読 国際誌
Yu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, Jun-Hui Yuan, Masahiro Ando, Yujiro Higuchi, Akihiro Hashiguchi, Eiji Matsuura, Fumihito Nozaki, Tomohiro Kumada, Kei Murayama, Mikiya Suzuki, Yuki Yamamoto, Naoko Matsui, Yoshimichi Miyazaki, Masamitsu Yamaguchi, Youji Suzuki, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroshi Takashima
Journal of neurology 269 ( 8 ) 4129 - 4140 2022年3月
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Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis. 査読 国際誌
Chiseko Ikenaga, Hidetoshi Date, Motoi Kanagawa, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Iago Pinal-Fernandez, Andrew L Mammen, Thomas E Lloyd, Shoji Tsuji, Jun Shimizu, Tatsushi Toda, Jun Goto
Annals of neurology 91 ( 3 ) 317 - 328 2022年3月
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Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene. 査読 国際誌
Hiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, Ryo Inuzuka, Yuki Taniguchi, Kristine Joyce Porto, Hiroyuki Ishiura, Jun Mitsui, Hiroyuki Morita, Issei Komuro
Clinical case reports 10 ( 2 ) e05335 2022年2月
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An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex. 査読 国際誌
Yasumasa Kokubo, Satoru Morimoto, Ryogen Sasaki, Masato Hasegawa, Hiroyuki Ishiura, Shoji Tsuji, Mari Yoshida, Naohisa Yamazoe, Mitsukazu Miyazaki, Shigeki Kuzuhara
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 43 ( 2 ) 1423 - 1425 2022年2月
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An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families. 査読 国際誌
Masahiro Ando, Yujiro Higuchi, Yuji Okamoto, Junhui Yuan, Akiko Yoshimura, Jun Takei, Takaki Taniguchi, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Hiroto Nakagawa, Ken Sonoda, Toru Yamashita, Akiko Tamura, Hideo Terasawa, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Journal of human genetics 67 ( 7 ) 399 - 403 2022年1月
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Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments. 査読 国際誌
Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Nozomu Matsuda, Mamoru Yamamoto, Eisuke Dohi, Makoto Takahashi, Masanao Yoshino, Taichi Nomura, Masaaki Matsushima, Ichiro Yabe, Yui Sanpei, Hiroyuki Ishiura, Jun Mitsui, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Journal of human genetics 67 ( 6 ) 353 - 362 2022年1月
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Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy. 査読 国際誌
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Eiji Matsuura, Akihiro Hashiguchi, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Frontiers in neurology 13 986504 - 986504 2022年
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DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism. 査読 国際誌
Akatsuki Kubota, Hiroyuki Ishiura, Kristine Joyce Linay Porto, Masaki Tanaka, Jun Mitsui, Atsushi Unuma, Hisataka Maki, Issei Komuro, Shoji Tsuji, Jun Shimizu, Tatsushi Toda
Neuromuscular disorders : NMD 32 ( 3 ) 263 - 269 2021年12月
-
Randomized, double-blind, placebo-controlled phase 1 study to evaluate the safety and pharmacokinetics of high doses of ubiquinol in healthy adults 査読
Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Naoko Saito-Sato, Fumiko Kusunoki Nakamoto, Tsutomu Yasuda, Hiroya Naruse, Miho Kawabe Matsukawa, Hiroyuki Ishiura, Midori Nagase, Yorihiro Yamamoto, Haruko Kuzuyama, Ikue Wada, Toshio Ga, Tsutomu Yamazaki, Takashi Moritoyo, Shoji Tsuji
NEUROLOGY AND CLINICAL NEUROSCIENCE 2021年12月
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Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population. 査読 国際誌
Asem Almansour, Hiroyuki Ishiura, Jun Mitsui, Takashi Matsukawa, Miho Kawabe Matsukawa, Hideaki Shimizu, Atsuhiko Sugiyama, Tatsushi Toda, Shoji Tsuji
Cerebellum (London, England) 2021年11月
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Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases.
Masanori Kurihara, Yusuke Sugiyama, Masaki Tanaka, Kenichiro Sato, Akihiko Mitsutake, Hiroyuki Ishiura, Akatsuki Kubota, Kaori Sakuishi, Toshihiro Hayashi, Atsushi Iwata, Jun Shimizu, Kei Murayama, Shoji Tsuji, Tatsushi Toda
Internal medicine (Tokyo, Japan) 61 ( 13 ) 1939 - 1946 2021年11月
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COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population. 国際誌
Kristine Joyce Porto, Makito Hirano, Jun Mitsui, Ayaka Chikada, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda, Susumu Kusunoki, Shoji Tsuji
Journal of the neurological sciences 429 117623 - 117623 2021年10月
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Akihiko Mitsutake, Atsushi Unuma, Mizuho Kawai, Akatsuki Kubota, Hiroyuki Ishiura, Kaori Sakuishi, Jun Shimizu, Hisataka Maki, Eisuke Amiya, Masaru Hatano, Issei Komuro, Shoji Tsuji, Tatsushi Toda
Neurology and Clinical Neuroscience 9 ( 6 ) 490 - 493 2021年10月
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Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies. 国際誌
Norifumi Takeda, Ryo Inuzuka, Hiroki Yagi, Hiroyuki Morita, Masahiko Ando, Haruo Yamauchi, Yuki Taniguchi, Kristine Joyce Porto, Tsubasa Kanaya, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Tatsushi Toda, Minoru Ono, Issei Komuro
Circulation. Genomic and precision medicine 14 ( 4 ) CIRCGEN121003458 2021年7月
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A Role of Aging in the Progression of Cortical Excitability in Benign Adult Familial Myoclonus Epilepsy type 1 Patients. 国際誌
Shuichiro Neshige, Takefumi Hitomi, Maya Tojima, Kazuki Oi, Katsuya Kobayashi, Masao Matsuhashi, Akihiro Shimotake, Riki Matsumoto, Masutaro Kanda, Hirofumi Maruyama, Hiroyuki Ishiura, Shoji Tsuji, Ryosuke Takahashi, Akio Ikeda
Movement disorders : official journal of the Movement Disorder Society 36 ( 10 ) 2446 - 2448 2021年7月
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腰曲がりで発症し、筋逸脱酵素上昇・筋MRI所見から当初筋疾患も疑った運動ニューロン疾患の1例
水上 颯, 大久保 颯, 内上 寛一, 清水 潤, 濱田 雅, 石浦 浩之, 佐竹 渉, 戸田 達史
日本内科学会関東地方会 670回 40 - 40 2021年7月
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Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis. 国際誌
Hitoshi Aizawa, Haruhisa Kato, Koji Oba, Takuya Kawahara, Yoshihiko Okubo, Tomoko Saito, Makiko Naito, Makoto Urushitani, Akira Tamaoka, Kiyotaka Nakamagoe, Kazuhiro Ishii, Takashi Kanda, Masahisa Katsuno, Naoki Atsuta, Yasushi Maeda, Makiko Nagai, Kazutoshi Nishiyama, Hiroyuki Ishiura, Tatsushi Toda, Akihiro Kawata, Koji Abe, Ichiro Yabe, Ikuko Takahashi-Iwata, Hidenao Sasaki, Hitoshi Warita, Masashi Aoki, Gen Sobue, Hidehiro Mizusawa, Yutaka Matsuyama, Tomohiro Haga, Shin Kwak
Journal of neurology 269 ( 2 ) 885 - 896 2021年6月
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Yumi Hashimoto, Jun Mitsui, Hiroyuki Ishiura, Takashi Matsukawa, Tatsushi Toda, Koji Kakisu, Yuichi Hori, Suguru Nakagawa, Tetsuya Toyono, Junko Yoshida, Tomohiko Usui, Satoru Yamagami, Makoto Aihara, Takashi Miyai
SN Comprehensive Clinical Medicine 2021年6月
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. 国際誌
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P van de Warrenburg, Ruben Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilguvar, Sherifa Hamed, Mohammed Abdelhameed, Nourelhoda A Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair Pagnamenta, Nick W Wood, Frederic Tran Mau-Them, Tobias Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary J H Willis, Katheryn Grand, John M Graham, Richard A Lewis, Francisca Millan, Özgür Duman, Nihal Dündar, Gökhan Uyanik, Ludger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Catala Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean-Jacques Medard, Roman Chrast, Michaela Auer-Grumbach, Fowzan S Alkuraya, Hanan Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horvath, Henry Houlden, Luca Bartesaghi, Hwei-Jen Lee, Konstantinos Ampatzis, Tyler Mark Pierson, Jan Senderek
Brain : a journal of neurology 2021年5月
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脳神経内科医を対象とした遺伝カウンセリング・ロールプレイの試み
竹内 千仙, 神原 容子, 西郷 和真, 矢部 一郎, 石浦 浩之, 松川 敬志, 池川 敦子, 柴田 有花, 張 香理, 吉田 邦広
日本遺伝カウンセリング学会誌 42 ( 1 ) 143 - 152 2021年5月
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Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review. 国際誌
Yuka Shibata, Masaaki Matsushima, Takashi Matsukawa, Hiroyuki Ishiura, Shoji Tsuji, Ichiro Yabe
Journal of human genetics 66 ( 5 ) 535 - 537 2021年5月
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Reliability and validity of Japanese version of Unified Multiple System Atrophy Rating Scale
Ayaka Chikada, Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda, Katsuhisa Ogata, Jun Goto, Gregor K. Wenning, Shoji Tsuji
Neurology and Clinical Neuroscience 9 ( 2 ) 171 - 180 2021年3月
-
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan. 国際誌
Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Kensuke Shiga, Arisa Hayashida, Taku Hatano, Hiroyuki Ishiura, Jun Mitsui, Nobutaka Hattori, Toshiki Mizuno, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Clinical genetics 99 ( 3 ) 359 - 375 2021年3月
-
Voriconazoleによる治療により症状が改善した侵襲性アスペルギルス症による眼窩尖端症候群の1例
岩崎 奏子, 横山 敬士, 勝瀬 一登, 角元 利行, 岡本 耕, 篠原 孝幸, 鴨頭 輝, 宮崎 義継, 石浦 浩之, 戸田 達史
日本内科学会関東地方会 666回 42 - 42 2021年2月
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Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders. 国際誌
Wai Yan Yau, Jana Vandrovcova, Roisin Sullivan, Zhongbo Chen, Anna Zecchinelli, Roberto Cilia, Stefano Duga, Malgorzata Murray, Susana Carmona, Viorica Chelban, Hiroyuki Ishiura, Shoji Tsuji, Zane Jaunmuktane, Chris Turner, Nicholas W Wood, Henry Houlden
Movement disorders : official journal of the Movement Disorder Society 36 ( 1 ) 251 - 255 2021年1月
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Cranial Nerve Involvement and Dysautonomia in Post-COVID-19 Guillain-Barré Syndrome
Toshiyuki Kakumoto, Satoshi Kobayashi, Hayato Yuuki, Mitsuhiro Kainaga, Yuichiro Shirota, Masashi Hamada, Meiko Hashimoto Maeda, Akatsuki Kubota, Mizuho Kawai, Masaaki Saito, Hiroyuki Ishiura, Tatsushi Toda
Internal Medicine 60 ( 21 ) 3477 - 3480 2021年
-
Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia
Kishin Koh, Mai Tsuchiya, Hiroyuki Ishiura, Haruo Shimazaki, Takeshi Nakamura, Hideo Hara, Kohei Suzuyama, Makio Takahashi, Shoji Tsuji, Yoshihisa Takiyama, Japan Spastic Paraplegia Research Consortium
Journal of Human Genetics 2021年
-
Familial dementia with Lewy bodies with VPS13C mutations. 国際誌
Ryota Kobayashi, Hiroya Naruse, Shingo Koyama, Shinobu Kawakatsu, Hiroshi Hayashi, Hiroyuki Ishiura, Jun Mitsui, Yasuyuki Ohta, Tatsushi Toda, Shoji Tsuji, Koichi Otani
Parkinsonism & related disorders 81 31 - 33 2020年12月
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A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis. 査読 国際誌
Akihiko Mitsutake, Takashi Matsukawa, Kristine Joyce L Porto, Tatsuya Sato, Junko Katsumata, Tomonari Seki, Risa Maekawa, Takuto Hideyama, Masaki Tanaka, Hiroyuki Ishiura, Tatsushi Toda, Shoji Tsuji, Yasushi Shiio
Journal of the neurological sciences 418 117091 - 117091 2020年11月
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Kristine Joyce L. Porto, Jun Mitsui, Hiroyuki Ishiura, Akatsuki Kubota, Kathleen Jaye L. Luspian, Emmanuel Eduardo, Ludwig Damian, Tatsushi Toda, Shoji Tsuji
Neurology and Clinical Neuroscience 8 ( 6 ) 419 - 421 2020年11月
-
Novel variant of CSF1R in sporadic case with early‐onset cognitive impairment
Takashi Matsukawa, Hiroshi Shoji, Yasutaka Urasaki, Hiroyuki Ishiura, Jun Mitsui, Shuichi Oguri, Shoji Tsuji, Tatsushi Toda
Neurology and Clinical Neuroscience 8 ( 6 ) 430 - 432 2020年11月
-
A Japanese family of primary familial brain calcification with paroxysmal kinesigenic dyskinesia(和訳中)
Mitsutake Akihiko, Matsukawa Takashi, Sato Tatsuya, Katsumata Junko, Seki Tomonari, Maekawa Risa, Hideyama Takuto, Tanaka Masaki, Ishiura Hiroyuki, Toda Tatsushi, Tsuji Shoji, Shiio Yasushi
臨床神経学 60 ( Suppl. ) S315 - S315 2020年11月
-
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance. 国際誌
Jun Hosoe, Fuyuki Miya, Hiroko Kadowaki, Toyofumi Fujiwara, Ken Suzuki, Takashi Kato, Hironori Waki, Takayoshi Sasako, Katsuya Aizu, Natsumi Yamamura, Fusako Sasaki, Makoto Kurano, Kazuo Hara, Masaki Tanaka, Hiroyuki Ishiura, Shoji Tsuji, Kenjiro Honda, Jun Yoshimura, Shinichi Morishita, Fumiko Matsuzawa, Sei-Ichi Aikawa, Keith A Boroevich, Masaomi Nangaku, Yukinori Okada, Tatsuhiko Tsunoda, Nobuhiro Shojima, Toshimasa Yamauchi, Takashi Kadowaki
Diabetes research and clinical practice 169 108461 - 108461 2020年11月
-
臨床ゲノム情報を活用した診断支援システムの要素技術の検討 査読
高野 良治, 宮本 青, 石井 雅通, 石浦 浩之, 辻 省次, 大江 和彦
医療情報学 40 ( 2 ) 83 - 95 2020年10月
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Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia. 国際誌
Yasuko Odake, Kishin Koh, Yoshihisa Takiyama, Hiroyuki Ishiura, Shoji Tsuji, Masahito Yamada, Mitsuhiro Yoshita
Neurology. Genetics 6 ( 5 ) e514 2020年10月
-
Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene
Natsuko Nakamura, Kazushige Tsunoda, Akihiko Mitsutake, Shota Shibata, Tatsuo Mano, Yu Nagashima, Hiroyuki Ishiura, Atsushi Iwata, Tatsushi Toda, Shoji Tsuji, Hiromasa Sawamura
Investigative ophthalmology & visual science 61 ( 11 ) 27 2020年9月
-
A novel mutation in ABCD1 gene in a Filipino patient with adult‐onset X‐linked ALD
Kristine Joyce Porto, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Alexandria Matic, Justine Megan Yu, Jacqueline Dominguez, Ludwig Damian, Tatsushi Toda, Shoji Tsuji
Neurology and Clinical Neuroscience 8 ( 5 ) 329 - 331 2020年9月
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Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis. 査読 国際誌
Hiroki Hongo, Satoru Miyawaki, Hideaki Imai, Masahiro Shimizu, Shinichi Yagi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Wei Qu, Yu Teranishi, Atsushi Okano, Hideaki Ono, Hirofumi Nakatomi, Tsuneo Shimizu, Shinichi Morishita, Shoji Tsuji, Nobuhito Saito
Scientific reports 10 ( 1 ) 11942 - 11942 2020年7月
-
Mizuho Yoshida, Toshihiro Hayashi, Kurumi Fujii, Hiroyuki Ishiura, Shoji Tsuji, Yasuhisa Sakurai
Neurocase 26 ( 4 ) 220 - 226 2020年7月
-
A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report
Keiko Nakamura-Shindo, Kenjiro Ono, Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama, Masahito Yamada
eNeurologicalSci 19 2020年6月
-
Clinical features of inherited neuropathy with BSCL2 mutations in Japan. 査読 国際誌
Satoshi Ishihara, Yuji Okamoto, Hajime Tanabe, Akiko Yoshimura, Yujiro Higuchi, Jun-Hui Yuan, Akihiro Hashiguchi, Hiroyuki Ishiura, Jun Mitsui, Shugo Suwazono, Yasushi Oya, Masayuki Sasaki, Masanori Nakagawa, Shoji Tsuji, Yusuke Ohya, Hiroshi Takashima
Journal of the peripheral nervous system : JPNS 25 ( 2 ) 125 - 131 2020年6月
-
Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy. 査読 国際誌
Takashi Matsukawa, Tomotaka Yamamoto, Akira Honda, Takashi Toya, Hiroyuki Ishiura, Jun Mitsui, Masaki Tanaka, Akihito Hao, Akihito Shinohara, Mizuki Ogura, Keisuke Kataoka, Sachiko Seo, Keiki Kumano, Masataka Hosoi, Kensuke Narukawa, Megumi Yasunaga, Hiroaki Maki, Motoshi Ichikawa, Yasuhito Nannya, Yoichi Imai, Tsuyoshi Takahashi, Yuji Takahashi, Yuki Nagasako, Kyoko Yasaka, Kagari Koshi Mano, Miho Kawabe Matsukawa, Toji Miyagawa, Masashi Hamada, Kaori Sakuishi, Toshihiro Hayashi, Atsushi Iwata, Yasuo Terao, Jun Shimizu, Jun Goto, Harushi Mori, Akira Kunimatsu, Shigeki Aoki, Shin Hayashi, Fumihiko Nakamura, Syunya Arai, Kazunari Momma, Katsuhisa Ogata, Toshikazu Yoshida, Osamu Abe, Johji Inazawa, Tatsushi Toda, Mineo Kurokawa, Shoji Tsuji
Brain communications 2 ( 1 ) fcz048 2020年
-
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. 査読 国際誌
Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y
Molecular genetics & genomic medicine e1108 2019年12月
-
Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction. 査読
Ryo Sasaki, Yasuyuki Ohta, Kota Sato, Koh Tadokoro, Yoshiaki Takahashi, Jingwei Shang, Mami Takemoto, Nozomi Hishikawa, Toru Yamashita, Hiroyuki Ishiura, Shoji Tsuji, Koji Abe
Internal medicine (Tokyo, Japan) 58 ( 21 ) 3163 - 3165 2019年11月
-
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes. 査読 国際誌
Haitian Nan, Yuta Ichinose, Masaki Tanaka, Kishin Koh, Hiroyuki Ishiura, Jun Mitsui, Heisuke Mizukami, Masafumi Morimoto, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama
Journal of human genetics 64 ( 11 ) 1055 - 1065 2019年11月
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Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia. 査読
Hiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui, Yaeko Ichikawa, Masashi Hamada, Jun Shimizu, Jun Goto, Tatsushi Toda, Shoji Tsuji
Internal medicine (Tokyo, Japan) 58 ( 19 ) 2865 - 2869 2019年10月
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Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. 査読 国際誌
Shunta Hashiguchi, Hiroshi Doi, Misako Kunii, Yukihiro Nakamura, Misa Shimuta, Etsuko Suzuki, Shigeru Koyano, Masaki Okubo, Hitaru Kishida, Masaaki Shiina, Kazuhiro Ogata, Fumiko Hirashima, Yukichi Inoue, Shun Kubota, Noriko Hayashi, Haruko Nakamura, Keita Takahashi, Atsuko Katsumoto, Mikiko Tada, Kenichi Tanaka, Toshikuni Sasaoka, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Nozomu Sato, Kokoro Ozaki, Kiyobumi Ohta, Takanori Yokota, Hidehiro Mizusawa, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Shinichi Morishita, Shoji Tsuji, Hideyuki Takeuchi, Kinya Ishikawa, Naomichi Matsumoto, Taro Ishikawa, Fumiaki Tanaka
Neurobiology of disease 130 104516 - 104516 2019年10月
-
Tomoya Taminato, Manabu Araki, Noriko Sato, Hiroyuki Ishiura, Jun Mitsui, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Yuji Takahashi
Neurology and Clinical Neuroscience 7 ( 5 ) 294 - 296 2019年9月
-
Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells. 査読 国際誌
Shin-Ichiro Sekine, Masayuki Kaneko, Masaki Tanaka, Yuhei Ninomiya, Hisaka Kurita, Masatoshi Inden, Megumi Yamada, Yuichi Hayashi, Takashi Inuzuka, Jun Mitsui, Hiroyuki Ishiura, Atsushi Iwata, Hiroto Fujigasaki, Hisamitsu Tamaki, Ryusei Tamaki, Shinsuke Kito, Yoshiharu Taguchi, Kortaro Tanaka, Naoki Atsuta, Gen Sobue, Takayuki Kondo, Haruhisa Inoue, Shoji Tsuji, Isao Hozumi
Scientific reports 9 ( 1 ) 5698 - 5698 2019年4月
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The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case. 査読 国際誌
Yoshikawa K, Kuwahara M, Saigoh K, Ishiura H, Yamagishi Y, Hamano Y, Samukawa M, Suzuki H, Hirano M, Mitsui Y, Tsuji S, Kusunoki S
eNeurologicalSci 14 34 - 37 2019年3月
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A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy. 査読 国際誌
Takuya Miyabayashi, Tatsuhiro Ochiai, Naoki Suzuki, Masashi Aoki, Takehiko Inui, Yukimune Okubo, Ryo Sato, Noriko Togashi, Hiroshi Takashima, Hiroyuki Ishiura, Shoji Tsuji, Kishin Koh, Yoshihisa Takiyama, Kazuhiro Haginoya
Journal of human genetics 64 ( 2 ) 171 - 176 2019年2月
-
Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia. 査読 国際誌
Kishin Koh, Yuta Ichinose, Hiroyuki Ishiura, Haitian Nan, Jun Mitsui, Junya Takahashi, Wakiro Sato, Yoshiaki Itoh, Kyoko Hoshino, Shoji Tsuji, Yoshihisa Takiyama
Journal of human genetics 64 ( 1 ) 61 - 63 2019年1月
-
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia. 査読 国際誌
Kishin Koh, Yuta Ichinose, Hiroyuki Ishiura, Haitian Nan, Jun Mitsui, Junya Takahashi, Wakiro Sato, Yoshiaki Itoh, Kyoko Hoshino, Shoji Tsuji, Yoshihisa Takiyama
Journal of human genetics 64 ( 1 ) 55 - 59 2019年1月
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Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy. 査読
Jumpei Togawa, Takekazu Ohi, Jun-Hui Yuan, Hiroshi Takashima, Hirokazu Furuya, Shinji Takechi, Junko Fujitake, Saki Hayashi, Hiroyuki Ishiura, Hiroya Naruse, Jun Mitsui, Shoji Tsuji
Internal medicine (Tokyo, Japan) 58 ( 13 ) 1851 - 1858 2019年
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An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy. 査読
Nanaka Yamaguchi, Tatsuo Mano, Ryo Ohtomo, Hiroyuki Ishiura, M Asem Almansour, Harushi Mori, Junko Kanda, Yuichiro Shirota, Kenichiro Taira, Teppei Morikawa, Masako Ikemura, Yasuo Yanagi, Shigeo Murayama, Jun Shimizu, Yasuhisa Sakurai, Shoji Tsuji, Atsushi Iwata
Internal medicine (Tokyo, Japan) 57 ( 23 ) 3459 - 3462 2018年12月
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成人発症型ALDに対するHSCT 脳障害の早期診断をもたらす背景因子(HSCT for adult-onset ALD: Background factors leading to early diagnosis of the brain involvement)
Matsukawa Takashi, Mitsui Jun, Ishiura Hiroyuki, Yamamoto Tomotaka, Hao Akihito, Matsukawa Miho, Tanaka Masaki, Chang Hyangri, Miyagawa Toji, Hamada Masashi, Takahashi Yuji, Hayashi Toshihiro, Iwata Atsushi, Shimizu Jun, Goto Jun, Toda Tatsushi, Tsuji Shoji
臨床神経学 58 ( Suppl. ) S371 - S371 2018年12月
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The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy. 査読 国際誌
Fumiko Kusunoki Nakamoto, Satoshi Okamoto, Jun Mitsui, Takefumi Sone, Mitsuru Ishikawa, Yorihiro Yamamoto, Yumi Kanegae, Yuhki Nakatake, Kent Imaizumi, Hiroyuki Ishiura, Shoji Tsuji, Hideyuki Okano
Scientific reports 8 ( 1 ) 14215 - 14215 2018年9月
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Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. 査読 国際誌
Kishin Koh, Hiroyuki Ishiura, Minako Beppu, Haruo Shimazaki, Yuta Ichinose, Jun Mitsui, Satoshi Kuwabara, Shoji Tsuji, Yoshihisa Takiyama
Journal of human genetics 63 ( 9 ) 1009 - 1013 2018年9月
-
JASPAC: Japan Spastic Paraplegia Research Consortium. 査読
Koh K, Ishiura H, Tsuji S, Takiyama Y
Brain sciences 8 ( 8 ) 2018年8月
-
Ketotic hyperglycemia-related seizure with reversible white matter lesion: Metabolic implication of its reversibility based on magnetic resonance spectroscopy study. 査読 国際誌
Satoshi Kodama, Tatsuo Mano, Toshiyuki Kakumoto, Hiroyuki Ishiura, Akifumi Hagiwara, Kouhei Kamiya, Toshihiro Hayashi, Shoji Tsuji
Journal of the neurological sciences 390 20 - 21 2018年7月
-
No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY. 査読 国際誌
Yukio Horikawa, Kazuyoshi Hosomichi, Mayumi Enya, Hiroyuki Ishiura, Yutaka Suzuki, Shoji Tsuji, Sumio Sugano, Ituro Inoue, Jun Takeda
Journal of human genetics 63 ( 7 ) 821 - 829 2018年7月
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両側脊髄病変による痙性麻痺の亜急性進行を呈した遅発性Krabbe病の症例(A case of late-onset Krabbe disease which showed subacute progression of spastic paresis with bilateral spinal cord lesions) 査読
Mitsutake Akihiko, Matsukawa Takashi, Ishiura Hiroyuki, Mitsui Jun, Taira Kenichiro, Tokushige Shin-ichi, Iwata Atsushi, Terao Yasuo, Shimizu Jun, Sakai Norio, Tsuji Shoji
Neurology and Clinical Neuroscience 6 ( 4 ) 104 - 106 2018年7月
-
SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report. 査読 国際誌
Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito Mizuno, George Seki, Shoji Tsuji, Masaomi Nangaku
BMC medical genetics 19 ( 1 ) 103 - 103 2018年6月
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Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. 査読 国際誌
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima
Brain : a journal of neurology 141 ( 6 ) 1622 - 1636 2018年6月
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Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1. 査読
Cen Z, Jiang Z, Chen Y, Zheng X, Xie F, Yang X, Lu X, Ouyang Z, Wu H, Chen S, Yin H, Qiu X, Wang S, Ding M, Tang Y, Yu F, Li C, Wang T, Ishiura H, Tsuji S, Jiao C, Liu C, Xiao J, Luo W
Brain : a journal of neurology 141 ( 8 ) 2280 - 2288 2018年6月
-
HIV Dementia with a Decreased Cardiac 123I-metaiodobenzylguanidine Uptake Masquerading as Dementia with Lewy Bodies. 査読
Kurihara M, Sasaki T, Ishiura H, Tsuji S
Internal medicine (Tokyo, Japan) 57 ( 20 ) 3007 - 3010 2018年5月
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Optineurin pathology in the spinal cord of amyotrophic lateral sclerosis/parkinsonism-dementia complex patients in Kii Peninsula, Japan. 査読 国際誌
Satoru Morimoto, Hiroyuki Hatsuta, Rie Motoyama, Yasumasa Kokubo, Hiroyuki Ishiura, Shoji Tsuji, Shigeki Kuzuhara, Shigeo Murayama
Brain pathology (Zurich, Switzerland) 28 ( 3 ) 422 - 426 2018年5月
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Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia 査読
Masanori Kurihara, Hiroyuki Ishiura, Takuya Sasaki, Juuri Otsuka, Toshihiro Hayashi, Yasuo Terao, Takashi Matsukawa, Jun Mitsui, Juntaro Kaneko, Kazutoshi Nishiyama, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Shimizu, Shoji Tsuji
Cerebellum 17 ( 2 ) 237 - 242 2018年4月
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Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis. 査読 国際誌
Genki Tohnai, Ryoichi Nakamura, Jun Sone, Masahiro Nakatochi, Daichi Yokoi, Masahisa Katsuno, Hazuki Watanabe, Hirohisa Watanabe, Mizuki Ito, Yuanzhe Li, Yuishin Izumi, Mitsuya Morita, Akira Taniguchi, Osamu Kano, Masaya Oda, Satoshi Kuwabara, Koji Abe, Ikuko Aiba, Koichi Okamoto, Kouichi Mizoguchi, Kazuko Hasegawa, Masashi Aoki, Nobutaka Hattori, Osamu Onodera, Hiroya Naruse, Jun Mitsui, Yuji Takahashi, Jun Goto, Hiroyuki Ishiura, Shinichi Morishita, Jun Yoshimura, Koichiro Doi, Shoji Tsuji, Kenji Nakashima, Ryuji Kaji, Naoki Atsuta, Gen Sobue
Neurobiology of aging 64 158.e15-158.e19 - 158.e19 2018年4月
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A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient. 査読
Akatsuki Kubota, Hiroyuki Ishiura, Jun Mitsui, Kaori Sakuishi, Atsushi Iwata, Tomotaka Yamamoto, Ichizo Nishino, Shoji Tsuji, Jun Shimizu
Internal medicine (Tokyo, Japan) 57 ( 6 ) 877 - 882 2018年3月
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Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan 査読
Hajime Tanabe, Yujiro Higuchi, Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Satoshi Ishihara, Satoshi Nozuma, Yuji Okamoto, Eiji Matsuura, Hiroyuki Ishiura, Jun Mitsui, Ryotaro Takashima, Norito Kokubun, Kengo Maeda, Yuri Asano, Yoko Sunami, Yu Kono, Yasunori Ishigaki, Shosaburo Yanamoto, Jiro Fukae, Hiroshi Kida, Mitsuya Morita, Shoji Tsuji, Hiroshi Takashima
Journal of the Peripheral Nervous System 23 ( 1 ) 40 - 48 2018年3月
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Authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub's comments for our case report 査読
Eisuke Amiya, Hiroyuki Morita, Hiroyuki Ishiura, Shoji Tsuji, Issei Komuro
International Journal of Cardiology 254 262 2018年3月
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Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing 査読
Yosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, Yuki Kawakubo, Fumichika Nishimura, Chihiro Kakiuchi, Mamoru Tochigi, Jun Ohashi, Naoto Aoki, Kayoko Kato, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Takafumi Shimada, Masaomi Furukawa, Tadashi Umekage, Tsukasa Sasaki, Kiyoto Kasai, Yukiko Kano
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 174 ( 7 ) 712 - 723 2017年10月
-
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance 査読
Jun Hosoe, Hiroko Kadowaki, Fuyuki Miya, Katsuya Aizu, Tomoyuki Kawamura, Ichiro Miyata, Kenichi Satomura, Takeru Ito, Kazuo Hara, Masaki Tanaka, Hiroyuki Ishiura, Shoji Tsuji, Ken Suzuki, Minaka Takakura, Keith A. Boroevich, Tatsuhiko Tsunoda, Toshimasa Yamauchi, Nobuhiro Shojima, Takashi Kadowaki
DIABETES 66 ( 10 ) 2713 - 2723 2017年10月
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Togawa J, Ohi T, Yuan JH, Takashima H, Furuya H, Takechi S, Fujitake J, Hayashi S, Ishiura H, Naruse H, Mitsui J, Tsuji S
J. Neurol. Sci. 381 ( Supplement ) 716 2017年10月
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Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan 査読
M. Ando, Y. Okamoto, A. Yoshimura, J. -H. Yuan, Y. Hiramatsu, Y. Higuchi, A. Hashiguchi, J. Mitsui, H. Ishiura, S. Fukumura, M. Matsushima, N. Ochi, J. Tsugawa, S. Morishita, S. Tsuji, H. Takashima
EUROPEAN JOURNAL OF NEUROLOGY 24 ( 10 ) 1274 - 1282 2017年10月
-
Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology 査読
Chiseko Ikenaga, Akatsuki Kubota, Masato Kadoya, Kenichiro Taira, Naohiro Uchio, Ayumi Hida, Meiko Hashimoto Maeda, Yu Nagashima, Hiroyuki Ishiura, Kenichi Kaida, Jun Goto, Shoji Tsuji, Jun Shimizu
NEUROLOGY 89 ( 10 ) 1060 - 1068 2017年9月
-
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants 査読
A. Yoshimura, J. -H. Yuan, A. Hashiguchi, Y. Hiramatsu, M. Ando, Y. Higuchi, T. Nakamura, Y. Okamoto, K. Matsumura, T. Hamano, N. Sawaura, Y. Shimatani, S. Kumada, Y. Okumura, J. Miyahara, Y. Yamaguchi, S. Kitamura, K. Haginoya, J. Mitsui, H. Ishiura, S. Tsuji, H. Takashima
CLINICAL GENETICS 92 ( 3 ) 274 - 280 2017年9月
-
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study 査読
Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Yu Hiramatsu, Junhui Yuan, Yujiro Higuchi, Jun Mitsui, Hiroyuki Ishiura, Ayako Umemura, Koichi Maruyama, Takeshi Matsushige, Shinichi Morishita, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 22 ( 3 ) 191 - 199 2017年9月
-
Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot-Marie-Tooth disease 査読
Ishiura Hiroyuki, Mitsui Jun, Yoshimura Jun, Doi Koichiro, Morishita Shinichi, Hamada Masashi, Goto Jun, Tsuji Shoji
NEUROLOGY AND CLINICAL NEUROSCIENCE 5 ( 4 ) 124 - 126 2017年7月
-
Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations 査読
Jun Mitsui, Ken Koguchi, Toshimitsu Momose, Miwako Takahashi, Takashi Matsukawa, Tsutomu Yasuda, Shin-ichi Tokushige, Hiroyuki Ishiura, Jun Goto, Shigeaki Nakazaki, Tomoyoshi Kondo, Hidefumi Ito, Yorihiro Yamamoto, Shoji Tsuji
CEREBELLUM 16 ( 3 ) 664 - 672 2017年6月
-
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype 査読
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
JOURNAL OF THE NEUROLOGICAL SCIENCES 375 424 - 429 2017年4月
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TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy 査読
Toshio Ikeda, Akihiko Nakahara, Rie Nagano, Maiko Utoyama, Megumi Obara, Hiroshi Moritake, Tamayo Uechi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Naoya Kenmochi, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroyuki Nunoi
JOURNAL OF HUMAN GENETICS 62 ( 4 ) 473 - 480 2017年4月
-
Authors' response to "Compound heterozygous Fukutin mutation-related non-compaction" by Finsterer and Zarrouk-Mahjoub 査読
Eisuke Amiya, Hiroyuki Morita, Hiroyuki Ishiura, Shoji Tsuji, Issei Komuro
INTERNATIONAL JOURNAL OF CARDIOLOGY 233 102 - 102 2017年4月
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Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease. 査読 国際誌
Harigaya Y, Matsukawa T, Fujita Y, Mizushima K, Ishiura H, Mitsui J, Morishita S, Shoji M, Ikeda Y, Tsuji S
Neurology. Genetics 3 ( 2 ) e138 2017年4月
-
Slowly progressive D-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing 査読
Takashi Matsukawa, Kagari Mano Koshi, Jun Mitsui, Taro Bannai, Miho Kawabe, Hiroyuki Ishiura, Yasuo Terao, Jun Shimizu, Keiko Murayama, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Jun Goto
JOURNAL OF THE NEUROLOGICAL SCIENCES 372 6 - 10 2017年1月
-
Novel mutation in the SOD1 gene in a patient with early-onset, rapidly progressive amyotrophic lateral sclerosis. 査読
kazaki M, Suzuki H, Takahashi Y, Ishiura H, Goto J, Hirano M, Saigoh K, Nakamura Y, Naruse H, Mitsui J, Tsuji S, Kusunoki S
Neurol Clin Neurosci 5 189 - 191 2017年
-
Fukutin gene mutations that cause left ventricular noncompaction 査読
Eisuke Amiya, Hiroyuki Morita, Masaru Hatanoa, Daisuke Nitta, Yumiko Hosoya, Hisataka Maki, Yoshihiro Motozawa, Naoko Sato, Hiroyuki Ishiura, Satoe Numakura, Yukako Shintani, Koichiro Kinugawa, Norifumi Takeda, Jun Shimizu, Shoji Tsuji, Issei Komuro
INTERNATIONAL JOURNAL OF CARDIOLOGY 222 727 - 729 2016年11月
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Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines 査読
Koki Fujimori, Toshiki Tezuka, Hiroyuki Ishiura, Jun Mitsui, Koichiro Doi, Jun Yoshimura, Hirobumi Tada, Takuya Matsumoto, Miho Isoda, Ryota Hashimoto, Nubutaka Hattori, Takuya Takahashi, Shinichi Morishita, Shoji Tsuji, Wado Akamatsu, Hideyuki Okano
MOLECULAR BRAIN 9 ( 1 ) 88 2016年10月
-
AgIn: measuring the landscape of CpG methylation of individual repetitive elements 査読
Yuta Suzuki, Jonas Korlach, Stephen W. Turner, Tatsuya Tsukahara, Junko Taniguchi, Wei Qu, Kazuki Ichikawa, Jun Yoshimura, Hideaki Yurino, Yuji Takahashi, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroyuki Takeda, Shinichi Morishita
BIOINFORMATICS 32 ( 19 ) 2911 - 2919 2016年10月
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Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance 査読
Mitsui Jun, Ishiura Hiroyuki, Yoshimura Jun, Doi Koichiro, Morishita Shinichi, Shoji Hiroshi, Arimori Yojiro, Matsumoto Takafumi, Shimizu Jun, Tsuji Shoji
NEUROLOGY AND CLINICAL NEUROSCIENCE 4 ( 5 ) 189 - 191 2016年9月
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Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy 査読
Jun Mitsui, Takashi Matsukawa, Tsutomu Yasuda, Hiroyuki Ishiura, Shoji Tsuji
JAMA NEUROLOGY 73 ( 8 ) 977 - 980 2016年8月
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Human genetic variation database, a reference database of genetic variations in the Japanese population. 査読 国際誌
Koichiro Higasa, Noriko Miyake, Jun Yoshimura, Kohji Okamura, Tetsuya Niihori, Hirotomo Saitsu, Koichiro Doi, Masakazu Shimizu, Kazuhiko Nakabayashi, Yoko Aoki, Yoshinori Tsurusaki, Shinichi Morishita, Takahisa Kawaguchi, Osuke Migita, Keiko Nakayama, Mitsuko Nakashima, Jun Mitsui, Maiko Narahara, Keiko Hayashi, Ryo Funayama, Daisuke Yamaguchi, Hiroyuki Ishiura, Wen-Ya Ko, Kenichiro Hata, Takeshi Nagashima, Ryo Yamada, Yoichi Matsubara, Akihiro Umezawa, Shoji Tsuji, Naomichi Matsumoto, Fumihiko Matsuda
Journal of human genetics 61 ( 6 ) 547 - 53 2016年6月
-
Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8 査読
Yuta Ichinose, Kishin Koh, Megumi Fukumoto, Nobuo Yamashiro, Fumikazu Kobayashi, Michiaki Miwa, Takamura Nagasaka, Kazumasa Shindo, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama
CLINICAL NEUROLOGY AND NEUROSURGERY 144 36 - 38 2016年5月
-
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2 査読
Yujiro Higuchi, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Satoshi Ishihara, Hajime Tanabe, Satoshi Nozuma, Yuji Okamoto, Eiji Matsuura, Ryuichi Ohkubo, Saeko Inamizu, Wataru Shiraishi, Ryo Yamasaki, Yasumasa Ohyagi, Jun-ichi Kira, Yasushi Oya, Hayato Yabe, Noriko Nishikawa, Shinsuke Tobisawa, Nozomu Matsuda, Masayuki Masuda, Chiharu Kugimoto, Kazuhiro Fukushima, Satoshi Yano, Jun Yoshimura, Koichiro Doi, Masanori Nakagawa, Shinichi Morishita, Shoji Tsuji, Hiroshi Takashima
ANNALS OF NEUROLOGY 79 ( 4 ) 659 - 672 2016年4月
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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia 査読
Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, Jose Luis Munoz-Blanco, Jesus Esteban-Perez, Alberto Rabano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto Garcia-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair
NATURE COMMUNICATIONS 7 11253 2016年4月
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A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia A Broadened Spectrum of SCA34 査読
Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, Nozomu Sato, Yoichiro Iikuni, Takamasa Majima, Kiyomi Yamane, Takashi Irioka, Hiroyuki Ishiura, Koichiro Doi, Shinichi Morishita, Miwa Higashi, Teruhiko Sekiguchi, Kazuo Koyama, Naohisa Ueda, Yoshiharu Miura, Satoko Miyatake, Naomichi Matsumoto, Takanori Yokota, Fumiaki Tanaka, Shoji Tsuji, Hidehiro Mizusawa, Kinya Ishikawa
JAMA NEUROLOGY 72 ( 7 ) 797 - 805 2015年7月
-
Variants associated with Gaucher disease in multiple system atrophy 査読
Jun Mitsui, Takashi Matsukawa, Hidenao Sasaki, Ichiro Yabe, Masaaki Matsushima, Alexandra Duerr, Alexis Brice, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Hiroyuki Ishiura, Tsutomu Yasuda, Hidetoshi Date, Budrul Ahsan, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yasuo Nakahara, Yoshio Momose, Yuji Takahashi, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Takamichi Hattori, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Tomoyoshi Kondo, Shigeo Murayama, Nobutaka Hattori, Mitsutoshi Yamamoto, Miho Murata, Wataru Satake, Tatsushi Toda, Alessandro Filla, Thomas Klockgether, Ullrich Wuellner, Garth Nicholson, Sid Gilman, Caroline M. Tanner, Walter A. Kukull, Mathew B. Stern, Virginia M. -Y. Lee, John Q. Trojanowski, Eliezer Masliah, Phillip A. Low, Paola Sandroni, Laurie J. Ozelius, Tatiana Foroud, Shoji Tsuji
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY 2 ( 4 ) 417 - 426 2015年4月
-
Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome. 査読
Koh K, Kobayashi F, Miwa M, Shindo K, Isozaki E, Ishiura H, Tsuji S, Takiyama Y
Journal of human genetics 60 ( 4 ) 217 - 220 2015年4月
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DNA Sequencing and Other Methods of Exonic and Genomic Analyses 査読
Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition 77 - 85 2014年11月
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Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation 査読
Haruo Shimazaki, Junko Honda, Tametou Naoi, Michito Namekawa, Imaharu Nakano, Masahide Yazaki, Katsuya Nakamura, Kunihiro Yoshida, Shu-ichi Ikeda, Hiroyuki Ishiura, Yoko Fukuda, Yuji Takahashi, Jun Goto, Shoji Tsuji, Yoshihisa Takiyama
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY 85 ( 9 ) 1024 - 1028 2014年9月
-
A Recurrent De Novo FAM111A Mutation Causes Kenny-Caffey Syndrome Type 2 査読
Tsuyoshi Isojima, Koichiro Doi, Jun Mitsui, Yoichiro Oda, Etsuro Tokuhiro, Akihiro Yasoda, Tohru Yorifuji, Reiko Horikawa, Jun Yoshimura, Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji, Sachiko Kitanaka
JOURNAL OF BONE AND MINERAL RESEARCH 29 ( 4 ) 992 - 998 2014年4月
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Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing 査読
Koichiro Doi, Taku Monjo, Pham H. Hoang, Jun Yoshimura, Hideaki Yurino, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Yaeko Ichikawa, Jun Goto, Shoji Tsuji, Shinichi Morishita
BIOINFORMATICS 30 ( 6 ) 815 - 822 2014年3月
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Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan 査読
Megumi Yamada, Masaki Tanaka, Mari Takagi, Seiju Kobayashi, Yoshiharu Taguchi, Shutaro Takashima, Kortaro Tanaka, Tetsuo Touge, Hiroyuki Hatsuta, Shigeo Murayama, Yuichi Hayashi, Masayuki Kaneko, Hiroyuki Ishiura, Jun Mitsui, Naoki Atsuta, Gen Sobue, Nobuyuki Shimozawa, Takashi Inuzuka, Shoji Tsuji, Isao Hozumi
NEUROLOGY 82 ( 8 ) 705 - 712 2014年2月
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Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 査読
Guida Landoure, Peng-Peng Zhu, Charles M. Lourenco, Janel O. Johnson, Camilo Toro, Katherine V. Bricceno, Carlo Rinaldi, Katherine G. Meilleur, Modibo Sangare, Oumarou Diallo, Tyler M. Pierson, Hiroyuki Ishiura, Shoji Tsuji, Nichole Hein, John K. Fink, Marion Stoll, Garth Nicholson, Michael A. Gonzalez, Fiorella Speziani, Alexandra Duerr, Giovanni Stevanin, Leslie G. Biesecker, John Accardi, Dennis M. D. Landis, William A. Gahl, Bryan J. Traynor, Wilson Marques, Stephan Zuechner, Craig Blackstone, Kenneth H. Fischbeck, Barrington G. Burnett
HUMAN MUTATION 34 ( 10 ) 1357 - 1360 2013年10月
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Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 査読
Yaeko Ichikawa, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Shunsuke Kobayashi, Hiroshi Takuma, Ichiro Kanazawa, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto, Shoji Tsuji
JOURNAL OF THE NEUROLOGICAL SCIENCES 331 ( 1-2 ) 158 - 160 2013年8月
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[Present efforts in the medical genome center at the University of Tokyo Hospital]. 査読
Mitsui J, Ishiura H, Tsuji S
Brain and nerve = Shinkei kenkyu no shinpo 65 ( 3 ) 247 - 255 2013年3月
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Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients 査読
Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose
PLoS ONE 8 ( 2 ) e56120 2013年2月
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Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG 査読
Hiroyuki Ishiura, Shoji Tsuji
Clinical Neurology 53 ( 11 ) 1203 - 1205 2013年
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A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55) 査読
Haruo Shimazaki, Yoshihisa Takiyama, Hiroyuki Ishiura, Chika Sakai, Yuichi Matsushima, Hideyuki Hatakeyama, Junko Honda, Kumi Sakoe, Tametou Naoi, Michito Namekawa, Yoko Fukuda, Yuji Takahashi, Jun Goto, Shoji Tsuji, Yu-ichi Goto, Imaharu Nakano
JOURNAL OF MEDICAL GENETICS 49 ( 12 ) 777 - 784 2012年12月
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CSF1R Mutations Identified in Three Families With Autosomal Dominantly Inherited Leukoencephalopathy 査読
Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Koichiro Higasa, Jun Yoshimura, Taro L. Saito, Budrul Ahsan, Yuji Takahashi, Jun Goto, Atsushi Iwata, Yuki Niimi, Yuuichi Riku, Yoji Goto, Kazuo Mano, Mari Yoshida, Shinichi Morishita, Shoji Tsuji
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 159B ( 8 ) 951 - 957 2012年12月
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Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population 査読
Hiroya Naruse, Yuji Takahashi, Tameko Kihira, Sohei Yoshida, Yasumasa Kokubo, Shigeki Kuzuhara, Hiroyuki Ishiura, Masaharu Amagasa, Shigeo Murayama, Shoji Tsuji, Jun Goto
AMYOTROPHIC LATERAL SCLEROSIS 13 ( 6 ) 562 - 566 2012年10月
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Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep 査読
Ayumi Hida, Hiroyuki Ishiura, Noritoshi Arai, Hisayo Fukuoka, Kanehiro Hasuo, Jun Goto, Yoshikazu Uesaka, Shoji Tsuji, Sousuke Takeuchi
JOURNAL OF NEUROLOGY 259 ( 10 ) 2234 - 2236 2012年10月
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study 査読
Elisa Majounie, Alan E. Renton, Kin Mok, Elise G. P. Dopper, Adrian Waite, Sara Rollinson, Adrian Chio, Gabriella Restagno, Nayia Nicolaou, Javier Simon-Sanchez, John C. van Swieten, Yevgeniya Abramzon, Janel O. Johnson, Michael Sendtner, Roger Pamphlett, Richard W. Orrell, Simon Mead, Katie C. Sidle, Henry Houlden, Jonathan D. Rohrer, Karen E. Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, Dena G. Hernandez, Sampath Arepalli, Mario Sabatelli, Gabriele Mora, Massimo Corbo, Fabio Giannini, Andrea Calvo, Elisabet Englund, Giuseppe Borghero, Gian Luca Foris, Anne M. Remes, Hannu Laaksovirta, Leo McCluskey, John Q. Trojanowski, Vivianna M. Van Deerlin, Gerard D. Schellenberg, Michael A. Nalls, Vivian E. Drory, Chin-Song Lu, Tu-Hsueh Yeh, Hiroyuki Ishiura, Yuji Takahashi, Shoji Tsuji, Isabelle Le Ber, Alexis Brice, Carsten Drepper, Nigel Williams, Janine Kirby, Pamela Shaw, John Hardy, Pentti J. Tienari, Peter Heutink, Huw R. Morris, Stuart Pickering-Brown, Bryan J. Traynor
LANCET NEUROLOGY 11 ( 4 ) 323 - 330 2012年4月
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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 査読
Gladys Montenegro, Adriana P. Rebelo, James Connell, Rachel Allison, Carla Babalini, Michela D'Aloia, Pasqua Montieri, Rebecca Schuele, Hiroyuki Ishiura, Justin Price, Alleene Strickland, Michael A. Gonzalez, Lisa Baumbach-Reardon, Tine Deconinck, Jia Huang, Giorgio Bernardi, Jeffery M. Vance, Mark T. Rogers, Shoji Tsuji, Peter De Jonghe, Margaret A. Pericak-Vance, Ludger Schoels, Antonio Orlacchio, Evan Reid, Stephan Zuechner
JOURNAL OF CLINICAL INVESTIGATION 122 ( 2 ) 538 - 544 2012年2月
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Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease 査読
Meiko Hashimoto Maeda, Jun Mitsui, Bing-Wen Soong, Yuji Takahashi, Hiroyuki Ishiura, Shin Hayashi, Yuichiro Shirota, Yaeko Ichikawa, Hideyuki Matsumoto, Makoto Arai, Tomoko Okamoto, Sahoko Miyama, Jun Shimizu, Johji Inazawa, Jun Goto, Shoji Tsuji
ANNALS OF NEUROLOGY 71 ( 1 ) 84 - 92 2012年1月
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Hypertrophic Pachymeningitis and Tracheobronchial Stenosis in IgG4-related Disease: Case Presentation and Literature Review 査読
Hiroyuki Yamashita, Yuko Takahashi, Hiroyuki Ishiura, Toshikazu Kano, Hiroshi Kaneko, Akio Mimori
INTERNAL MEDICINE 51 ( 8 ) 935 - 941 2012年
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Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5 査読
Takashi Matsukawa, Xuemin Wang, Rui Liu, Noel C. Wortham, Yuko Onuki, Akatsuki Kubota, Ayumi Hida, Hisatomo Kowa, Yoko Fukuda, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Shigeki Aoki, Shunya Takizawa, Jun Shimizu, Jun Goto, Christopher G. Proud, Shoji Tsuji
NEUROGENETICS 12 ( 3 ) 259 - 261 2011年8月
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Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers 査読
Hiroyuki Ishiura, Shoji Tsuji
Clinical Neurology 51 ( 11 ) 970 - 972 2011年
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Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy 査読
Masakazu Akahori, Kazushige Tsunoda, Yozo Miyake, Yoko Fukuda, Hiroyuki Ishiura, Shoji Tsuji, Tomoaki Usui, Tetsuhisa Hatase, Makoto Nakamura, Hisao Ohde, Takeshi Itabashi, Haru Okamoto, Yuichiro Takada, Takeshi Iwata
AMERICAN JOURNAL OF HUMAN GENETICS 87 ( 3 ) 424 - 429 2010年9月
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Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer 査読
Jun Mitsui, Yoko Fukuda, Kyo Azuma, Hirokazu Tozaki, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Shoji Tsuji
JOURNAL OF HUMAN GENETICS 55 ( 7 ) 448 - 455 2010年7月
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A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation 査読
Yuichiro Shirota, Atsushi Iwata, Hiroyuki Ishiura, Meiko Hashimoto, Jun Goto, Jun Shimizu, Ritsuko Hanajima, Jun Nakajima, Yutaka Takazawa, Shoji Tsuji
INTERNAL MEDICINE 49 ( 15 ) 1627 - 1631 2010年
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SNP Haplotype Mapping in a Small ALS Family 査読
Katherine A. Dick Krueger, Shoji Tsuji, Yoko Fukuda, Yuji Takahashi, Jun Goto, Jun Mitsui, Hiroyuki Ishiura, Joline C. Dalton, Michael B. Miller, John W. Day, Laura P. W. Ranum
PLOS ONE 4 ( 5 ) e5687 2009年5月