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Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
- Authors :
- 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
Egmond, Martje E.
Flowers, Joanna M.
McEntagart, Meriel
Tucci, Arianna
Coubes, Philippe
Bustos, Bernabe I.
Gonzalez‐Latapi, Paulina
Tisch, Stephen
Darveniza, Paul
Gorman, Kathleen M.
Peall, Kathryn J.
Bötzel, Kai
Koch, Jan C.
Kmieć, Tomasz
Plecko, Barbara
Boesch, Sylvia
Haslinger, Bernhard
Jech, Robert
Garavaglia, Barbara
Wood, Nick
Houlden, Henry
Gissen, Paul
Lubbe, Steven J.
Sue, Carolyn M.
Cif, Laura
Mencacci, Niccolò E.
Anderson, Glenn
Kurian, Manju A.
Winkelmann, Juliane
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
Details
- Database :
- OpenAIRE
- Accession number :
- edsair.od.......518..765174a5d791ac8e7cfc2b893a13e2f1