Daniel Rochefort
Montreal Neurological Institute and Hospital(CA)McGill University Health Centre(CA)McGill University(CA)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research, Parkinson's Disease Mechanisms and Treatments, Amyotrophic Lateral Sclerosis Research
Most-Cited Works
- → Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy(1998)796 cited
- → Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo(2009)415 cited
- → De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia(2010)379 cited
- → The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum(2002)278 cited
- → Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency(2012)274 cited
- → De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment(2010)241 cited