Deletion of the THAP1 Gene Is Responsible for Typical DYT-THAP1.
作者信息
Mouraux Charlotte, Aktan David, Depierreux Frédérique
机构信息
GIGA-CRC-Rare Movement Disorders Research Group, University of Liège, Liège, Belgium.
Department of Human Genetics, University Hospital of Liège, Liège, Belgium.
出版信息
Mov Disord Clin Pract. 2025 May;12(5):691-693. doi: 10.1002/mdc3.14350. Epub 2025 Jan 30.
Abstract
摘要
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本文引用的文献
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Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6.
2
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3
Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.苍白球深部脑刺激治疗单基因肌张力障碍：基因对治疗结果的影响。
Front Neurol. 2021 Jan 8;11:630391. doi: 10.3389/fneur.2020.630391. eCollection 2020.
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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).《常染色体拷贝数变异解释和报告的技术标准：美国医学遗传学与基因组学学会（ACMG）与临床基因组资源（ClinGen）的联合共识推荐》
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