Truncating VPS16 Mutations Are Rare in Early Onset Dystonia-Reference-Cited by-同舟云学术

Truncating VPS16 Mutations Are Rare in Early Onset Dystonia

Published:2020-12-28 Issue:3 Volume:89 Page:625-626
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Pott Hendrik¹,Brüggemann Norbert¹²^ORCID,Reese Rene³⁴,Zeuner Kirsten E.³,Gandor Florin⁵,Gruber Doreen⁵,Klein Christine¹^ORCID,Volkmann Jens³⁶,Lohmann Katja¹^ORCID,

Affiliation:

1. Institute of Neurogenetics University of Lübeck Lübeck Germany

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

3. Department of Neurology University Hospital Schleswig Holstein Campus Kiel Germany

4. Department of Neurology Rostock University Hospital Rostock Germany

5. Beelitz Clinics Beelitz‐Heilstätten Germany

6. Department of Neurology Würzburg University Hospital Würzburg Germany

Funder

Bundesministerium für Bildung und Forschung

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25990

Reference3 articles.

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

2. DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation

3. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

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