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Ostrozovičová, M.* ; Jech, R.* ; Steel, D.* ; Pavelekova, P.* ; Han, V.* ; Gdovinova, Z.* ; Lichtner, P. ; Kurian, M.A.* ; Wiethoff, S.* ; Houlden, H.* ; Havránková, P.* ; Winkelmann, J. ; Zech, M. ; Škorvánek, M.*

A recurrent VPS16 p.Arg187* nonsense variant in early-onset generalized dystonia.

Mov. Disord. 36, 1984-1985 (2021)
DOI PMC
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Publication type Article: Journal article
Document type Scientific Article
Language english
Publication Year 2021
HGF-reported in Year 2021
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Journal Movement Disorders
Quellenangaben Volume: 36, Issue: 8, Pages: 1984-1985 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Reviewing status Peer reviewed
Institute(s) CF Genomics (CF-GEN)
Institute of Neurogenomics (ING)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30205 - Bioengineering and Digital Health
Research field(s)
Genetics and Epidemiology
PSP Element(s) A-632700-001
G-503200-001
Grants Univerzita Karlova v Praze
UK NIHR Professorship
the Sir Jules Thorn Award for Biomedical Research
the Operational Programme Integrated Infrastructure
the European Joint Pogramme on Rare Disease
Rosetrees Trust
Agentura Pro Zdravotnický Výzkum České Republiky
Agentúra na Podporu Výskumu a Vývoja
DOI 10.1002/mds.28647
WOS ID WOS:000651047700001
Scopus ID 85105961574
PubMed ID 33998058
Erfassungsdatum 2021-06-28
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