Cognitive impairment in a complex family with AAGGG and ACAGG repeat expansions in RFC1 detected by ExpansionHunter Denovo

• Material Type: 博士論文
• Title: Cognitive impairment in a complex family with AAGGG and ACAGG repeat expansions in RFC1 detected by ExpansionHunter Denovo
• Author/Editor: 渡邊, 一樹
• Author Heading: 渡邊, 一樹 ワタナベ, カズキ
• Publication, Distribution, etc.: Wolters Kluwer Health
• Publication Date: 2022-06
• Publication Date (W3CDTF): 2022-06
• Alternative Title: ExpansionHunter Denovoによって検出されたRFC1遺伝子のAAGGGおよびACAGG反復配列伸長を有する複雑な家系における認知機能障害
• Periodical title: Neurology® Genetics
• No. or year of volume/issue: 8 3
• Volume: 8
• Issue: 3
• Pages: e682-
• ISSN (Periodical Title): EISSN : 2376-7839
• Degree grantor/type: 浜松医科大学
• Date Granted: 2024-03-13
• Dissertation Number: 甲第986号
• Degree Type: 博士（医学）
• Text Language Code: eng
• Target Audience: 一般
• Note (General): doctoral; 医学系研究科
• Format (IMT): application/pdf
• Source: 論文本文 （fulltext）; https://hama-med.repo.nii.ac.jp/record/2000330/files/DT_986ronbun.pdf
• Access Restrictions: インターネット公開
• Rights (production): (C) 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.; This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
• Related Material (DOI): 10.1212/NXG.0000000000000682
• Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• Original Data Provider (Database): 浜松医科大学 : 浜松医科大学学術機関リポジトリ

• Summary, etc.: Background and Objectives We investigated the genetic basis and brain metabolism and blood flow of a Japanese family with spinocerebellar degeneration...