A Recurrent VPS16 p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia-Reference-Cited by-同舟云学术

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

Published:2021-05-17 Issue:8 Volume:36 Page:1984-1985
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Ostrozovicova Miriama¹²^ORCID,Jech Robert³^ORCID,Steel Dora⁴⁵,Pavelekova Petra¹,Han Vladimir¹²,Gdovinova Zuzana¹²,Lichtner Peter⁶,Kurian Manju A.⁴⁵^ORCID,Wiethoff Sarah⁷⁸,Houlden Henry⁹,Havránková Petra³,Winkelmann Julianne¹⁰¹¹¹²¹³,Zech Michael¹⁰¹¹,Skorvanek Matej¹²

Affiliation:

1. Department of Neurology P.J. Safarik University Kosice Slovak Republic

2. Department of Neurology University Hospital of L. Pasteur Kosice Slovak Republic

3. Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague Prague Czech Republic

4. Developmental Neurosciences UCL Great Ormond Street Institute of Child Health London United Kingdom

5. Department of Neurology Great Ormond Street Hospital London United Kingdom

6. Core Facility NGS, Helmholtz Zentrum München Munich Germany

7. Department of Neurology with Institute for Translational Neurology University Clinics Munster Germany

8. UCL Queen Square Institute of Neurology London United Kingdom

9. Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology London United Kingdom

10. Institute of Neurogenomics, Helmholtz Zentrum München Munich Germany

11. Institut für Humangenetik, Technische Universität München Munich Germany

12. Lehrstuhl für Neurogenetik, Technische Universität München Munich Germany

13. Munich Cluster for Systems Neurology, SyNergy Munich Germany

Funder

Agentúra na Podporu Výskumu a Vývoja

Agentura Pro Zdravotnický Výzkum České Republiky

Rosetrees Trust

Univerzita Karlova v Praze

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28647

Reference5 articles.

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

2. Truncating VPS16 Mutations Are Rare in Early Onset Dystonia

3. Monogenic variants in dystonia: an exome-wide sequencing study

4. De Novo Mutations (GAG Deletion) in the DYT1 Gene in Two Non-Jewish Patients with Early-onset Dystonia

5. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

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