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Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34
Article de revueNeurol Genet, 6 (2), 2020.
The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature
Article de revueJ Child Neurol, 35 (8), 2020.
A National Spinal Muscular Atrophy Registry for Real-World Evidence
Article de revueCan J Neurol Sci, 47 (6), 2020.
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
Article de revueNeuromuscul Disord, 30 (6), 2020.
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians
Article de revueAnn Neurol, 87 (4), 2020.
Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review
Article de revueDev Med Child Neurol, 59 (3), 2017.
Clinical and genetic study of hereditary spastic paraplegia in Canada
Article de revueNeurol Genet, 3 (1), 2017.
Response
Article de revueNeuromuscul Disord, 26 (6), 2016.
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update
Article de revueNeuromuscul Disord, 25 (9), 2015.
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
Article de revueNeuromuscul Disord, 19 (5), 2009.