Reduced Age-Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74-Year-Old Woman from a German Family with SCA27B.

IF 7.4 1区 医学 Q1 CLINICAL NEUROLOGY Movement Disorders Pub Date : 2024-07-01 DOI:10.1002/mds.29915
David Pellerin, Jens Seemann, Andreas Traschütz, Bernard Brais, Winfried Ilg, Matthis Synofzik
{"title":"Reduced Age-Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74-Year-Old Woman from a German Family with SCA27B.","authors":"David Pellerin, Jens Seemann, Andreas Traschütz, Bernard Brais, Winfried Ilg, Matthis Synofzik","doi":"10.1002/mds.29915","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":null,"pages":null},"PeriodicalIF":7.4000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Movement Disorders","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mds.29915","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
德国一个 SCA27B 家族中一名 74 岁女性的大 FGF14 GAA 重复扩增的年龄依赖性降低。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Movement Disorders
Movement Disorders 医学-临床神经学
CiteScore
13.30
自引率
8.10%
发文量
371
审稿时长
12 months
期刊介绍: Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.
期刊最新文献
Prevalence of Late-Stage Parkinson's Disease in the US Healthcare System: Insights from TriNetX. STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8. Gait Analysis and Magnetic Resonance Imaging Characteristics in Patients with Isolated Rapid Eye Movement Sleep Behavior Disorder. In Memoriam Gregor K. Wenning (1964-2024). Navigating Visual Challenges: How Parkinson's Disease Alters Cognitive Priorities in Visual Search.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1