一名经基因证实的萨利共济失调患者因新型截短变异而出现肌张力障碍:扩大基因型和表型范围。

IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Movement Disorders Clinical Practice Pub Date : 2024-10-01 Epub Date: 2024-06-27 DOI:10.1002/mdc3.14152
Nitish Kamble, Vikram V Holla, Pavan Kumar Katragadda, Babylakshmi Muthusamy, Pramod Kumar Pal
{"title":"一名经基因证实的萨利共济失调患者因新型截短变异而出现肌张力障碍:扩大基因型和表型范围。","authors":"Nitish Kamble, Vikram V Holla, Pavan Kumar Katragadda, Babylakshmi Muthusamy, Pramod Kumar Pal","doi":"10.1002/mdc3.14152","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1295-1297"},"PeriodicalIF":2.6000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489611/pdf/","citationCount":"0","resultStr":"{\"title\":\"Dystonia in a Patient with Genetically Proven Salih Ataxia Due to a Novel Truncating Variant: Expanding the Genotypic and Phenotypic Spectrum.\",\"authors\":\"Nitish Kamble, Vikram V Holla, Pavan Kumar Katragadda, Babylakshmi Muthusamy, Pramod Kumar Pal\",\"doi\":\"10.1002/mdc3.14152\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":19029,\"journal\":{\"name\":\"Movement Disorders Clinical Practice\",\"volume\":\" \",\"pages\":\"1295-1297\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489611/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Movement Disorders Clinical Practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mdc3.14152\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/6/27 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Movement Disorders Clinical Practice","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mdc3.14152","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/27 0:00:00","PubModel":"Epub","JCR":"Q2","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
Dystonia in a Patient with Genetically Proven Salih Ataxia Due to a Novel Truncating Variant: Expanding the Genotypic and Phenotypic Spectrum.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
4.00
自引率
7.50%
发文量
218
期刊介绍: Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)
期刊最新文献
Decision-making trends in therapeutic interventions for multiple system atrophy: a 24-year retrospective study. In Memoriam C. Warren Olanow (1941-2024). Autoimmune "Atypical" Atypical Parkinsonism: Anti-GABAB Receptor Encephalitis Presenting as a Reversible Mimic of Progressive Supranuclear Palsy. Equal Distress and Less Hope in Parkinson's Disease Patients Compared to Brain Tumors Patients. Movement Disorders in Hereditary Cerebellar Ataxia.
×
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
×
提示
确定
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