著作: [瓦井 俊孝]/[森垣 龍馬]/[梶 龍兒]/[後藤 惠]/Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag)./[Brain Sciences]
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種別 | 必須 | 学術論文(審査論文) | |||
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言語 | 必須 | 英語 | |||
招待 | 推奨 | ||||
審査 | 推奨 | ||||
カテゴリ | 推奨 | 研究 | |||
共著種別 | 推奨 | 学内共著(徳島大学内研究者との共同研究 (学外研究者を含まない)) | |||
学究種別 | 推奨 | ||||
組織 | 推奨 |
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著者 | 必須 | ||||
題名 | 必須 |
(英) Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag). |
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副題 | 任意 | ||||
要約 | 任意 |
(英) X-linked dystonia-parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or "Lubag" disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life. Among the primary monogenic dystonias, XDP has been identified as a transcriptional dysregulation syndrome with impaired expression of the TAF1 (TATA box-binding protein associated factor 1) gene, which is a critical component of the cellular transcription machinery. The major neuropathology of XDP is progressive neuronal loss in the neostriatum (i.e., the caudate nucleus and putamen). XDP may be used as a human disease model to elucidate the pathomechanisms by which striatal neurodegeneration leads to dystonia symptoms. In this article, we introduce recent advances in the understanding of the interplay between pathophysiology and genetics in XDP. |
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キーワード | 推奨 | ||||
発行所 | 推奨 | ||||
誌名 | 必須 |
Brain Sciences(Molecular Diversity Preservation International)
(eISSN: 2076-3425)
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巻 | 必須 | 7 | |||
号 | 必須 | 7 | |||
頁 | 必須 | 72 72 | |||
都市 | 任意 | ||||
年月日 | 必須 | 2017年 6月 26日 | |||
URL | 任意 | ||||
DOI | 任意 | 10.3390/brainsci7070072 (→Scopusで検索) | |||
PMID | 任意 | 28672841 (→Scopusで検索) | |||
CRID | 任意 | ||||
WOS | 任意 | ||||
Scopus | 任意 | 2-s2.0-85021763034 | |||
評価値 | 任意 | ||||
被引用数 | 任意 | ||||
指導教員 | 推奨 | ||||
備考 | 任意 |
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