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Publication
PropertyValue
Working Groups Winkelmann
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 32808683
DOIDOI 10.1002/ana.25879
Publication Year2020
TitleLoss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
JournalAnnals of neurology
ISSN0364-5134
ESSN1531-8249
URL https://www.ncbi.nlm.nih.gov/pubmed/?term=32808683%5Buid%5D
Pages867-877
Issue5
Volume88
Journal AbbreviationAnn Neurol
AuthorsSteel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J
First AuthorSteel D
Last AuthorWinkelmann J