| ○種別 (必須): | □ | 学術論文 (審査論文)
| [継承] |
| ○言語 (必須): | □ | 英語
| [継承] |
| ○招待 (推奨): |
| ○審査 (推奨): |
| ○カテゴリ (推奨): | □ | 研究
| [継承] |
| ○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))
| [継承] |
| ○学究種別 (推奨): |
| ○組織 (推奨): | 1. | 徳島大学.大学院医歯薬学研究部.医学域.医科学部門 (2015年4月1日〜)
| [継承] |
| ○著者 (必須): | 1. | 瓦井 俊孝
| ○役割 (任意): |
| ○貢献度 (任意): |
| ○学籍番号 (推奨): |
| [継承] |
| 2. | 森垣 龍馬 ([徳島大学.大学院医歯薬学研究部.医学域.共同研究講座.先端脳機能研究開発]/[徳島大学.病院.診療科.脳·神経·精神科.脳神経外科])
| ○役割 (任意): |
| ○貢献度 (任意): |
| ○学籍番号 (推奨): |
| [継承] |
| 3. | 梶 龍兒 ([徳島大学.研究支援・産官学連携センター])
| ○役割 (任意): |
| ○貢献度 (任意): |
| ○学籍番号 (推奨): |
| [継承] |
| 4. | 後藤 惠
| ○役割 (任意): |
| ○貢献度 (任意): |
| ○学籍番号 (推奨): |
| [継承] |
| ○題名 (必須): | □ | (英) Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag). (日)
| [継承] |
| ○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. (日)
| [継承] |
| ○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)
| ○ISSN (任意): | □ | 2076-3425
ISSN: 2076-3425
(eISSN: 2076-3425) Title: Brain sciencesTitle(ISO): Brain SciPublisher: Multidisciplinary Digital Publishing Institute (MDPI) (NLM Catalog)
(Scopus)
(CrossRef)
(Scopus information is found. [need login]) | [継承] |
| [継承] |
| ○巻 (必須): | □ | 7
| [継承] |
| ○号 (必須): | □ | 7
| [継承] |
| ○頁 (必須): | □ | 72 72
| [継承] |
| ○都市 (任意): |
| ○年月日 (必須): | □ | 西暦 2017年 6月 26日 (平成 29年 6月 26日)
| [継承] |
| ○URL (任意): |
| ○DOI (任意): | □ | 10.3390/brainsci7070072 (→Scopusで検索)
| [継承] |
| ○PMID (任意): | □ | 28672841 (→Scopusで検索)
| [継承] |
| ○CRID (任意): |
| ○WOS (任意): |
| ○Scopus (任意): | □ | 2-s2.0-85021763034
| [継承] |
| ○評価値 (任意): |
| ○被引用数 (任意): |
| ○指導教員 (推奨): |
| ○備考 (任意): | 1. | (英) Article.ELocationID: E72 (日)
| [継承] |
| 2. | (英) Article.ELocationID: 10.3390/brainsci7070072 (日)
| [継承] |
| 3. | (英) Article.PublicationTypeList.PublicationType: Journal Article (日)
| [継承] |
| 4. | (英) Article.PublicationTypeList.PublicationType: Review (日)
| [継承] |
| 5. | (英) KeywordList.Keyword: X-linked dystoniaarkinsonism (日)
| [継承] |
| 6. | (英) KeywordList.Keyword: genetics (日)
| [継承] |
| 7. | (英) KeywordList.Keyword: neurodegeneration (日)
| [継承] |
| 8. | (英) KeywordList.Keyword: pathophysiology (日)
| [継承] |
| 9. | (英) KeywordList.Keyword: striatum (日)
| [継承] |
| 10. | (英) KeywordList.Keyword: striosome (日)
| [継承] |
| 11. | (英) CoiStatement: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (日)
| [継承] |