截短型VPS16突变在早发性肌张力障碍中罕见。 - Suppr

Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.

作者信息

Pott Hendrik, Brüggemann Norbert, Reese Rene, Zeuner Kirsten E, Gandor Florin, Gruber Doreen, Klein Christine, Volkmann Jens, Lohmann Katja

机构信息

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Department of Neurology, University Hospital Schleswig Holstein, Campus Lübeck, Germany.

出版信息

Ann Neurol. 2021 Mar;89(3):625-626. doi: 10.1002/ana.25990. Epub 2020 Dec 28.

DOI:10.1002/ana.25990

PMID:33305852

Abstract

摘要

相似文献

Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.

Ann Neurol. 2021 Mar;89(3):625-626. doi: 10.1002/ana.25990. Epub 2020 Dec 28.

Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia".

Ann Neurol. 2021 Mar;89(3):626. doi: 10.1002/ana.25988. Epub 2020 Dec 22.

Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.

Mov Disord. 2021 Mar;36(3):780-781. doi: 10.1002/mds.28540. Epub 2021 Feb 17.

VPS16 and VPS41: The List of Genes Causing Early-Onset Dystonia Keeps Expanding.

Mov Disord. 2021 Mar;36(3):609. doi: 10.1002/mds.28511. Epub 2021 Jan 26.

Mutation screening of VPS16 gene in patients with isolated dystonia.

Parkinsonism Relat Disord. 2021 Feb;83:63-65. doi: 10.1016/j.parkreldis.2020.12.014. Epub 2021 Jan 12.

A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.

Mov Disord. 2021 Aug;36(8):1984-1985. doi: 10.1002/mds.28647. Epub 2021 May 17.

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.

Sci Rep. 2016 May 12;6:25834. doi: 10.1038/srep25834.

MDSGene: Extending the List of Isolated Dystonia Genes by VPS16, EIF2AK2, and AOPEP.

Mov Disord. 2023 Mar;38(3):507-508. doi: 10.1002/mds.29327. Epub 2023 Jan 20.

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21.

PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.

Mov Disord. 2016 May;31(5):765-7. doi: 10.1002/mds.26583. Epub 2016 Mar 17.

引用本文的文献

-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile.

Tremor Other Hyperkinet Mov (N Y). 2025 Jul 7;15:30. doi: 10.5334/tohm.1030. eCollection 2025.

Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum.

Mov Disord Clin Pract. 2025 Feb;12(2):236-238. doi: 10.1002/mdc3.14250. Epub 2024 Nov 6.

A Novel Pattern of Dystonia in DYT-: "Speaking in Tongues".

Neurol Genet. 2024 Jul 8;10(4):e200154. doi: 10.1212/NXG.0000000000200154. eCollection 2024 Aug.

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.

Mov Disord Clin Pract. 2024 Jan;11(1):87-93. doi: 10.1002/mdc3.13927. Epub 2023 Dec 12.

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.

Front Genet. 2023 Jul 17;14:1198821. doi: 10.3389/fgene.2023.1198821. eCollection 2023.

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.

Neurogenetics. 2023 Jul;24(3):215-218. doi: 10.1007/s10048-023-00720-0. Epub 2023 May 24.

Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.

Neurol Res Pract. 2022 May 30;4(1):21. doi: 10.1186/s42466-022-00185-w.

De Novo Missense Mutation of in a Chinese Patient with Generalized Dystonia with Myoclonus.

Mov Disord Clin Pract. 2021 Dec 26;9(4):551-552. doi: 10.1002/mdc3.13392. eCollection 2022 May.

Transcript-Specific Loss-of-Function Variants in Are Enriched in Patients With Dystonia.

Neurol Genet. 2021 Dec 7;8(1):e644. doi: 10.1212/NXG.0000000000000644. eCollection 2022 Feb.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.

Ann Neurol. 2021 Mar;89(3):625-626. doi: 10.1002/ana.25990. Epub 2020 Dec 28.

Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia".

Ann Neurol. 2021 Mar;89(3):626. doi: 10.1002/ana.25988. Epub 2020 Dec 22.

Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.

Mov Disord. 2021 Mar;36(3):780-781. doi: 10.1002/mds.28540. Epub 2021 Feb 17.

VPS16 and VPS41: The List of Genes Causing Early-Onset Dystonia Keeps Expanding.

Mov Disord. 2021 Mar;36(3):609. doi: 10.1002/mds.28511. Epub 2021 Jan 26.

Mutation screening of VPS16 gene in patients with isolated dystonia.

Parkinsonism Relat Disord. 2021 Feb;83:63-65. doi: 10.1016/j.parkreldis.2020.12.014. Epub 2021 Jan 12.

A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.

Mov Disord. 2021 Aug;36(8):1984-1985. doi: 10.1002/mds.28647. Epub 2021 May 17.

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.

Sci Rep. 2016 May 12;6:25834. doi: 10.1038/srep25834.

MDSGene: Extending the List of Isolated Dystonia Genes by VPS16, EIF2AK2, and AOPEP.

Mov Disord. 2023 Mar;38(3):507-508. doi: 10.1002/mds.29327. Epub 2023 Jan 20.

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21.

PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.

Mov Disord. 2016 May;31(5):765-7. doi: 10.1002/mds.26583. Epub 2016 Mar 17.

引用本文的文献

-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile.

Tremor Other Hyperkinet Mov (N Y). 2025 Jul 7;15:30. doi: 10.5334/tohm.1030. eCollection 2025.

Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum.

Mov Disord Clin Pract. 2025 Feb;12(2):236-238. doi: 10.1002/mdc3.14250. Epub 2024 Nov 6.

A Novel Pattern of Dystonia in DYT-: "Speaking in Tongues".

Neurol Genet. 2024 Jul 8;10(4):e200154. doi: 10.1212/NXG.0000000000200154. eCollection 2024 Aug.

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.

Mov Disord Clin Pract. 2024 Jan;11(1):87-93. doi: 10.1002/mdc3.13927. Epub 2023 Dec 12.

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.

Front Genet. 2023 Jul 17;14:1198821. doi: 10.3389/fgene.2023.1198821. eCollection 2023.

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.

Neurogenetics. 2023 Jul;24(3):215-218. doi: 10.1007/s10048-023-00720-0. Epub 2023 May 24.

Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.

Neurol Res Pract. 2022 May 30;4(1):21. doi: 10.1186/s42466-022-00185-w.

De Novo Missense Mutation of in a Chinese Patient with Generalized Dystonia with Myoclonus.

Mov Disord Clin Pract. 2021 Dec 26;9(4):551-552. doi: 10.1002/mdc3.13392. eCollection 2022 May.

Transcript-Specific Loss-of-Function Variants in Are Enriched in Patients With Dystonia.

Neurol Genet. 2021 Dec 7;8(1):e644. doi: 10.1212/NXG.0000000000000644. eCollection 2022 Feb.

Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献