Art

J-GLOBAL ID：201902227937030298   Reference number：19A1130371

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion

GBA総欠失を有する日本人家族における神経画像,遺伝的および酵素的研究【JST・京大機械翻訳】

Author (19)： Ichinose Yuta (Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan) ,  Ishiura Hiroyuki (Department of Neurology, The University of Tokyo, Tokyo, Japan) ,  Tanaka Masaki (Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan) ,  Yoshimura Jun (Department of Computational Biology, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan) ,  Doi Koichiro (Department of Computational Biology, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan) ,  Umeda Takako (Department of Radiology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan) ,  Yamauchi Hajime (Department of Biochemistry, Graduate School of Medical Sciences, University Of Yamanashi, Yamanashi, Japan) ,  Tsuchiya Mai (Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan) ,  Koh Kishin (Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan) ,  Yamashiro Nobuo (Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan) ,  Mitsui Jun (Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Goto Jun (Department of Neurology, Mita Hospital, International University of Health and Welfare, Tokyo, Japan) ,  Onishi Hiroshi (Department of Radiology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan) ,  Ohtsuka Toshihisa (Department of Biochemistry, Graduate School of Medical Sciences, University Of Yamanashi, Yamanashi, Japan) ,  Shindo Kazumasa (Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan) ,  Morishita Shinichi (Department of Computational Biology, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan) ,  Tsuji Shoji (Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan) ,  Tsuji Shoji (Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Takiyama Yoshihisa (Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan)
Material： Parkinsonism and Related Disorders
Volume： 61  Page： 57-63  Publication year： 2019 
JST Material Number： W3182A  ISSN： 1353-8020  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Glucocerebrosidase gene (GBA) ...

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Thesaurus term： Mutation ,  deletion mutation ,  Parkinson's disease ,  *enzyme ,  pathogenesis ,  Lewy body ,  SPECT ,  *Heredity ,  follow-up study ,  Dementia ,  Glucosylceramidase ,  molecular mechanism ,  *Japanese ,  *Neuroimaging ,  Cellular Structures
Semi thesaurus term： *ニューロイメージング , 【Automatic Indexing@JST】

Author keywords (5)： GBA ,  Deletion ,  Dopamine transporter imaging ,  Glucocerebrosidase ,  Parkinson’s disease

JST classification (2)： Nervous system diseases  (GN03000O) ,  Genetic variation  (EC01030Y)

Terms in the title (7)： 欠失 ,  日本人 ,  家族 ,  神経画像 ,  遺伝 ,  酵素 ,  研究