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J-GLOBAL ID：201802228640007475   Reference number：18A0484441

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis

散発性筋萎縮性側索硬化症の日本人患者におけるTBK1遺伝子変異体の頻度と特性【Powered by NICT】

Author (38)： Tohnai Genki (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Nakamura Ryoichi (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Sone Jun (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Nakatochi Masahiro (Statistical Analysis Section, Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan) ,  Yokoi Daichi (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Katsuno Masahisa (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Watanabe Hazuki (Department of Neurology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Aichi, Japan) ,  Watanabe Hirohisa (Brain and Mind Research Center, Nagoya University, Nagoya, Japan) ,  Ito Mizuki (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Li Yuanzhe (Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan) ,  Izumi Yuishin (Department of Neurology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan) ,  Morita Mitsuya (Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan) ,  Taniguchi Akira (Department of Neurology, Mie University Graduate School of Medicine, Tsu, Japan) ,  Kano Osamu (Division of Neurology, Department of Internal Medicine, Toho University School of Medicine, Tokyo, Japan) ,  Oda Masaya (Department of Neurology, Vihara Hananosato Hospital, Miyoshi, Japan) ,  Kuwabara Satoshi (Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan) ,  Abe Koji (Department of Neurology, Okayama University Graduate School of Medicine, Okayama, Japan) ,  Aiba Ikuko (Department of Neurology, National Hospital Organization, Higashinagoya National Hospital, Nagoya, Japan) ,  Okamoto Koichi (Department of Neurology, Geriatrics Research Institute and Hospital, Maebashi, Japan) ,  Mizoguchi Kouichi (Department of Neurology, National Hospital Organization, Shizuoka-Fuji Hospital, Fujinomiya, Japan) ,  Hasegawa Kazuko (Division of Neurology, National Hospital Organization, Sagamihara National Hospital, Sagamihara, Japan) ,  Aoki Masashi (Department of Neurology, Tohoku University School of Medicine, Sendai, Japan) ,  Hattori Nobutaka (Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan) ,  Onodera Osamu (Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan) ,  Naruse Hiroya (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Mitsui Jun (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Takahashi Yuji (Department of Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Goto Jun (Department of Neurology, International University of health and Welfare Mita Hospital, Tokyo, Japan) ,  Ishiura Hiroyuki (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Morishita Shinichi (Department of Computational Biology, Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan) ,  Yoshimura Jun (Department of Computational Biology, Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan) ,  Doi Koichiro (Department of Computational Biology, Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan) ,  Tsuji Shoji (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Nakashima Kenji (Department of Neurology, National Hospital Organization Matsue Medical Center, Matsue, Japan) ,  Kaji Ryuji (Department of Neurology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan) ,  Atsuta Naoki (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Sobue Gen (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Sobue Gen (Research Division of Dementia and Neurodegenerative Disease, Nagoya University Graduate School of Medicine, Nagoya, Japan)
Material： Neurobiology of Aging  (Neurobiol Aging)
Volume： 64  Page： 158.e15-158.e19  Publication year： 2018 
JST Material Number： W0356A  ISSN： 0197-4580  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Amyotrophic lateral sclerosis ...

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Thesaurus term： *patient ,  pathogenesis ,  nervous system disease ,  missense mutation ,  *amyotrophic lateral sclerosis ,  population(statistics) ,  *Japan ,  *gene ,  *genetic variation ,  toxicity ,  confidence interval
Semi thesaurus term： オッズ比 ,  エクソーム ,  *日本人 ,  *孤発性筋萎縮性側索硬化症 , 【Automatic Indexing@JST】

Author keywords (5)： Amyotrophic lateral sclerosis ,  Sporadic ,  Japan ,  TBK1 ,  Variant

JST classification (1)： Basic neurology  (GN01020W)

Terms in the title (6)： 散発性筋萎縮性側索硬化症 ,  日本人 ,  患者 ,  TBK1 ,  遺伝子変異 ,  頻度