Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Dora Steel,Michael Zech,Chen Zhao,Katy E. S. Barwick,Derek Burke,Diane Demailly,Kishore R. Kumar,Giovanna Zorzi,Nardo Nardocci,Rauan Kaiyrzhanov,Matias Wagner,Arcangela Iuso,Riccardo Berutti,Matej Skorvanek,Jan Necpal,Ryan Davis,Sarah Wiethoff,Kshitij Mankad,Sniya Sudhakar,Arianna Ferrini,Suvasini Sharma,Erik-Jan Kamsteeg,Marina A. Tijssen,Corien Verschuuren,Martje E. van Egmond, Joanna M. Flowers,Meriel McEntagart,Arianna Tucci,Philippe Coubes,Bernabe I. Bustos,Paulina Gonzalez-Latapi,Stephen Tisch,Paul Darveniza,Kathleen M. Gorman,Kathryn J. Peall,Kai Boetzel,Jan C. Koch,Tomasz Kmiec,Barbara Plecko,Sylvia Boesch,Bernhard Haslinger,Robert Jech,Barbara Garavaglia,Nick Wood,Henry Houlden,Paul Gissen,Steven J. Lubbe,Carolyn M. Sue,Laura Cif,Niccolo E. Mencacci,Glenn Anderson,Manju A. Kurian,Juliane Winkelmann ANNALS OF NEUROLOGY（2020）
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