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J-GLOBAL ID：202002211038459434   Reference number：20A0797519

A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy

孤発性下オリーブ核肥大を示すSOD1遺伝子におけるL126S変異を有するALSの臨床病理学的研究

Author (13)： Hideshima Makoto (Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Beck Goichi (Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Yamadera Misaki (Department of Neurology, NHO Osaka Toneyama Medical Center, Osaka, Japan) ,  Motoyama Yuichi (Department of Pathology, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Ikenaka Kensuke (Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Kakuda Keita (Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Tsuda Hiroshi (Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Nagano Seiichi (Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Fujimura Harutoshi (Department of Neurology, NHO Osaka Toneyama Medical Center, Osaka, Japan) ,  Morii Eiichi (Department of Pathology, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Murayama Shigeo (Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Murayama Shigeo (Department of Neurology and Neuropathology (the Brain Bank for Aging Research), Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo, Japan) ,  Mochizuki Hideki (Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan)
Material： Neuropathology (Web)  (日本神経病理学会総会学術研究会プログラム・抄録集(Web))
Volume： 40  Issue： 2  Page： 191-195  Publication year： 2020 
JST Material Number： U0508A  ISSN： 1440-1789  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *SOD1 gene ,...

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Author keywords (5)： amyotrophic lateral sclerosis ,  inferior olivary hypertrophy ,  L126S mutation ,  neuronal intracytoplasmic inclusion ,  superoxide dismutase 1

JST classification (3)： Nervous system diseases  (GN03000O) ,  Musculoskeletal diseases  (GG03000T) ,  Molecular genetics in general  (EC02010J)

Terms in the title (7)： 下オリーブ核 ,  肥大 ,  SOD1遺伝子 ,  変異 ,  ALS ,  臨床病理学 ,  研究