A Novel Pattern of Dystonia in DYT- <i>VPS16</i>-Reference-Cited by-同舟云学术

A Novel Pattern of Dystonia in DYT- VPS16

Published:2024-08 Issue:4 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Desjardins Clément¹^ORCID,Delorme Cécile¹,Méneret Aurélie¹^ORCID,Flamand Constance¹,Leveque Nathalie¹,De Sainte Agathe Jean-Madeleine¹^ORCID,Roze Emmanuel¹^ORCID,Vidailhet Marie¹^ORCID

Affiliation:

1. From the AP-HP (C. Desjardins, Cécile Delorme, A.M., N.L., E.R., M.V.), Salpetriere Hospital; Sorbonne Université (C. Delorme, A.M., E.R., M.V.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Salpetriere, DMU Neuroscience 6, Paris; Service de neurologie (C.F.), Centre Hospitalier du Sud Francilien, Corbeil Essonnes; Laboratoire de Phonétique et Phonologie (CNRS/University Sorbonne-Nouvelle) Paris (N.L.); Department of Medical Genetics (J.-M.D.S.A.), Groupe Hospitalo...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200154

Reference16 articles.

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

2. Pullman M, Raymond D, Molofsky W, et al. Clinical and Pathological Characterization of VPS16 Dystonia (P11-11.005). Wednesday, April 26 [online]. Lippincott Williams & Wilkins; 2023:2737. Accessed June 10, 2023. neurology.org/lookup/doi/10.1212/WNL.0000000000202761

3. Truncating VPS16 Mutations Are Rare in Early Onset Dystonia

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

5. Mutations in the VPS16 Gene in 56 Early‐Onset Dystonia Patients