Art

J-GLOBAL ID：201802272499808357   Reference number：18A0277465

Bilateral striatal necrosis caused by a founder mitochondrial 14459G>A mutation in two independent Japanese families

創始者ミトコンドリア14459Gに起因する両側線条体壊死>2に依存しない日本人家族における変異【Powered by NICT】

Author (10)： Hirayanagi Kimitoshi (Department of Neurology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma 371-8511, Japan) ,  Okamoto Yuji (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima City, Kagoshima 890-8520, Japan) ,  Takai Eriko (Department of Neurology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma 371-8511, Japan) ,  Ishizawa Kunihiko (Department of Neurology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma 371-8511, Japan) ,  Makioka Kouki (Department of Neurology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma 371-8511, Japan) ,  Fujita Yukio (Department of Neurology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma 371-8511, Japan) ,  Kaneko Yuka (Kitakanto Neurologic Disorders Research Center, 105-1 Shinozuka, Fujioka, Gunma 375-0017, Japan) ,  Tanaka Makoto (Kitakanto Neurologic Disorders Research Center, 105-1 Shinozuka, Fujioka, Gunma 375-0017, Japan) ,  Takashima Hiroshi (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima City, Kagoshima 890-8520, Japan) ,  Ikeda Yoshio (Department of Neurology, Gunma University Graduate School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma 371-8511, Japan)
Material： Journal of the Neurological Sciences  (J Neurol Sci)
Volume： 378  Page： 177-181  Publication year： 2017 
JST Material Number： A1131A  ISSN： 0022-510X  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Bilateral striatal necrosis (B...

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Thesaurus term： phenotype ,  genetics ,  man ,  gene ,  NMR imaging ,  single nucleotide polymorphism ,  child ,  subunit ,  *necrosis ,  patient ,  heredity ,  *mitochondria
Semi thesaurus term： ヘテロプラスミー ,  ミトコンドリアDNA ,  *日本人 , 【Automatic Indexing@JST】

Author keywords (6)： Bilateral striatal necrosis ,  NADH dehydrogenase subunit 6 ,  14459G>A ,  SNP ,  Homoplasmy ,  Heteroplasmy

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (7)： ミトコンドリア ,  起因 ,  線条体 ,  壊死 ,  日本人 ,  家族 ,  変異