PEX11B 致病变异体的扩展表型：新型 C.2T > G 变异导致共济失调、震颤和肌张力障碍。

{"title":"PEX11B 致病变异体的扩展表型：新型 C.2T > G 变异导致共济失调、震颤和肌张力障碍。","authors":"Franclo Henning, Kireshnee Naidu, Christopher J Record, Natalia Dominik, Jana Vandrovcova, Frans Lubbe, Marli Dercksen, Lindsay A Wilson, Francois Van Der Westhuizen, Mary M Reilly, Henry Houlden, Michael G Hanna, Jonathan Carr","doi":"10.1002/mdc3.14178","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1298-1300"},"PeriodicalIF":2.6000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489608/pdf/","citationCount":"0","resultStr":"{\"title\":\"Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.\",\"authors\":\"Franclo Henning, Kireshnee Naidu, Christopher J Record, Natalia Dominik, Jana Vandrovcova, Frans Lubbe, Marli Dercksen, Lindsay A Wilson, Francois Van Der Westhuizen, Mary M Reilly, Henry Houlden, Michael G Hanna, Jonathan Carr\",\"doi\":\"10.1002/mdc3.14178\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":19029,\"journal\":{\"name\":\"Movement Disorders Clinical Practice\",\"volume\":\" \",\"pages\":\"1298-1300\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489608/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Movement Disorders Clinical Practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mdc3.14178\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/2 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/mdc3.14178","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/2 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}