Intellectual disability without epilepsy associated with STXBP1 disruption
Fadi F. Hamdan(Centre Hospitalier Universitaire Sainte-Justine), Jacques L. Michaud(Centre Hospitalier Universitaire Sainte-Justine), Michel Vanasse(Centre Hospitalier Universitaire Sainte-Justine), Sylvia Dobrzeniecka(Centre Hospitalier de l’Université de Montréal), Anne Lortie, Guy D’Anjou(Université de Montréal), Jean Claude Lacaille(Université de Montréal), Guy A. Rouleau(Montreal Neurological Institute and Hospital), Julie Gauthier(Centre Hospitalier Universitaire Sainte-Justine), Laurent Mottron(Centres Intégré Universitaires de Santé et de Services Sociaux)
Cited by 97
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
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane
|Trends in Biochemical Sciences|1998|548
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
|Human Molecular Genetics|1994|467