stub1相关常染色体隐性脊髓小脑性共济失调16型（SCAR16）表现为戈登-霍姆斯综合征，由母体单亲同染色体引起。

{"title":"stub1相关常染色体隐性脊髓小脑性共济失调16型（SCAR16）表现为戈登-霍姆斯综合征，由母体单亲同染色体引起。","authors":"Habibah A P Agianda, Amy Tam, Avaneesh Kunta, Umar Zubair, Afshin Saffari, Joshua Rong, Michelle Crough, Rasha Srouji, Vicente Quiroz, Kathryn Yang, Luca Schierbaum, Darius Ebrahimi-Fakhari","doi":"10.1002/mdc3.14322","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.\",\"authors\":\"Habibah A P Agianda, Amy Tam, Avaneesh Kunta, Umar Zubair, Afshin Saffari, Joshua Rong, Michelle Crough, Rasha Srouji, Vicente Quiroz, Kathryn Yang, Luca Schierbaum, Darius Ebrahimi-Fakhari\",\"doi\":\"10.1002/mdc3.14322\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":19029,\"journal\":{\"name\":\"Movement Disorders Clinical Practice\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-12-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Movement Disorders Clinical Practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mdc3.14322\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"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/mdc3.14322","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}