Recessive mutations in <i>VPS13D</i> cause childhood onset movement disorders
Julie Gauthier(Centre Hospitalier Universitaire Sainte-Justine), Philippe M. Campeau(Centre Hospitalier Universitaire Sainte-Justine), Inge A. Meijer(Université de Montréal), Steven Lubbe(Northwestern University), Davor Lessel(Universität Hamburg), Dimitri Krainc(Saint Thomas - Rutherford Hospital), Aida Telegrafi(GenVec), Niccolò E. Mencacci(Northwestern University), Holger Prokisch(Helmholtz Zentrum München), Margaret H. Helm(Maine Medical Center), Elsa Rossignol(Centre Hospitalier Universitaire Sainte-Justine), Guy A. Rouleau(Montreal Neurological Institute and Hospital), Stephanie E Wallace(Seattle Children's Hospital), Miryam Carecchio(Università degli Studi del Piemonte Orientale “Amedeo Avogadro”), Jacques L. Michaud(Centre Hospitalier Universitaire Sainte-Justine), Maja Hempel(Helmholtz Zentrum München), Lindsay B. Henderson(Johns Hopkins University), Konstantinos Tsiakas(Universität Hamburg), Lance H. Rodan(Boston Children's Hospital), Ian A. Glass(University of Washington), Fadi F. Hamdan(Centre Hospitalier Universitaire Sainte-Justine), Kerry Lorenzo(Kadlec Clinic), Jason Karamchandani(Montreal Neurological Institute and Hospital)
Cited by 133
Related Papers
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
|Nature Genetics|2008|1.5k
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
|PLoS Genetics|2014|672
Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma
|Nature|1988|670