Publication
Recessive mutations in >VPS13D
cause childhood onset movement disorders
VPS13D
Mutations
Julie Gauthier, Inge A. Meijer, Davor Lessel, Niccolò E. Mencacci, Dimitri Krainc, Maja Hempel, Konstantinos Tsiakas, Holger Prokisch, Elsa Rossignol, Margaret H. Helm, Lance H. Rodan, Jason Karamchandani, Miryam Carecchio, Steven J. Lubbe, Aida Telegrafi, Lindsay B. Henderson, Kerry Lorenzo, Stephanie E. Wallace, Ian A. Glass, Fadi F. Hamdan, Jacques L. Michaud, Guy A. Rouleau, Philippe M. Campeau
Annals of Neurology, April 2018, Wiley
DOI: 10.1002/ana.25204