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J-GLOBAL ID：201902238927662256   Reference number：19A1799124

Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report

新規SPTBN2変異に関連した乳児期発症脊髄小脳失調症5型:症例報告

Author (9)： Mizuno Tomoko (Department of Pediatrics, Tokyo Medical and Dental University, Japan) ,  Kashimada Ayako (Department of Pediatrics, Tokyo Medical and Dental University, Japan) ,  Nomura Toshihiro (Department of Pediatrics, Tokyo Medical and Dental University, Japan) ,  Moriyama Kengo (Department of Pediatrics, Tokyo Medical and Dental University, Japan) ,  Yokoyama Haruna (Department of Pediatrics, Tokyo Medical and Dental University, Japan) ,  Hasegawa Setsuko (Department of Pediatrics, Tokyo Medical and Dental University, Japan) ,  Takagi Masatoshi (Department of Pediatrics, Tokyo Medical and Dental University, Japan) ,  Mizutani Shuki (Department of Pediatrics, Tokyo Medical and Dental University, Japan) ,  Mizutani Shuki (Kawasaki North Center for Childhood Developmental Disorder, Japan)
Material： Brain & Development  (Brain & Dev)
Volume： 41  Issue： 7  Page： 630-633  Publication year： Aug. 2019 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： *spinocerebellar degeneration ,...
Semi thesaurus term： 脊髄小脳失調症5型 ,...

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Author keywords (4)： Spinocerebellar ataxia ,  Infantile-onset ,  SPTBN2 ,  β-III spectrin

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Nervous system diseases  (GN03000O)

Terms in the title (5)： 変異 ,  乳児期 ,  発症 ,  脊髄小脳失調症 ,  症例報告