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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
Open Access Green as soon as Postprint is submitted to ZB.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Quellenangaben Volume: 36, Issue: 8, Pages: 1984-1985 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) CF Genomics (CF-GEN)
Institute of Neurogenomics (ING)
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