STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.
作者信息
Agianda Habibah A P, Tam Amy, Kunta Avaneesh, Zubair Umar, Saffari Afshin, Rong Joshua, Crough Michelle, Srouji Rasha, Quiroz Vicente, Yang Kathryn, Schierbaum Luca, Ebrahimi-Fakhari Darius
机构信息
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
University of Central Florida College of Medicine, Orlando, Florida, USA.
出版信息
Mov Disord Clin Pract. 2025 Apr;12(4):533-536. doi: 10.1002/mdc3.14322. Epub 2024 Dec 27.
Abstract
摘要
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本文引用的文献
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Mov Disord. 2023 Apr;38(4):665-675. doi: 10.1002/mds.29352. Epub 2023 Feb 17.
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Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.遗传运动障碍命名：国际帕金森病与运动障碍学会工作组的建议——更新版。
Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28.
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