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Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't 
Author(s):
Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E S; Burke, Derek; Demailly, Diane; Kumar, Kishore R; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Škorvánek, Matej; Necpál, Ján; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A; Verschuuren, Corien; van Egmond, Martje E; Flowers, Joanna M; McEntagart, Meriel; Tucci, Arianna; Coubes, Philippe;...    »
 
Title:
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. 
Abstract:
OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses. METHODS: We undertook weighted burden analysis of whole-exome sequencing (WES) data from 138 individuals with unresolved generalized dystonia of suspected genetic etiology, followed by additional case-finding from international databases, first for the gene impl...    »
 
Journal title abbreviation:
Ann Neurol 
Year:
2020 
Journal volume:
88 
Journal issue:
Pages contribution:
867-877 
Fulltext / DOI:
Print-ISSN:
0364-5134 
TUM Institution:
617; Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)