Cognitive impairment in a complex family with AAGGG and ACAGG repeat expansions in RFC1 detected by ExpansionHunter Denovo 3

• 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
• Volume: 8 3
• Author/Editor: 渡邊, 一樹
• Author Heading: 渡邊, 一樹
• Publication, Distribution, etc.: Wolters Kluwer Health
• Publication Date: 2022-06; 8 3
• 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
• Pages: e682-
• ISSN (Periodical Title): 23767839
• Degree Grantor: 浜松医科大学; Hamamatsu University School of Medicine
• Date Granted: 2024-03-13
• Date Granted (W3CDTF): 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; 機関リポジトリ記載の権利情報: (C) 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.; 機関リポジトリ記載の権利情報: 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.
• Persistent ID (NDL): info:ndljp/pid/14071307; https://dl.ndl.go.jp/pid/14071307
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• Acquisition Basis: 博士論文（自動収集）
• Date Accepted (W3CDTF): 2025-03-07T22:45:02+09:00
• Format (IMT): application/pdf
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Related Material (URI): https://doi.org/10.1212/NXG.0000000000000682
• Periodical Title (URI): http://hdl.handle.net/10271/0002000330
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp

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