about
From animal models to human disease: a genetic approach for personalized medicine in ALSThe K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosumAutosomal dominant sensory ataxia: a neuroaxonal dystrophyLINGO1 variants in the French-Canadian populationHereditary motor and sensory neuropathy with agenesis of the corpus callosum.The Puzzle of Huntington Disease Phenocopies.Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis.Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation.Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patientsGenetic markers of Restless Legs Syndrome in Parkinson diseaseA Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ SignalingExome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.Exome sequencing identifies FUS mutations as a cause of essential tremor.Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.An Optimized Approach to Recover Secreted Proteins from Fibroblast Conditioned-Media for Secretomic AnalysisMutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic ParaplegiaThe role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorderPropofol-related infusion syndrome heralding a mitochondrial disease: case report.Systematic review of autosomal recessive ataxias and proposal for a classification.Genome-wide association study in essential tremor identifies three new loci.Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB-mediated pathogenic pathwaysThe influence of vascular risk factors on cognitive function in early Parkinson's disease.Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.Physician-assisted death: A Canada-wide survey of ALS health care providersMutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.Clinical and genetic study of hereditary spastic paraplegia in Canada.Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis.Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.No TARDBP mutations in a French Canadian population of patients with Parkinson disease.Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.SPG4 founder effect in French Canadians with hereditary spastic paraplegia.Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.Investigation of C9orf72 repeat expansions in Parkinson's disease.Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.
P50
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P50
description
Canadees arts
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Forscher
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investigador
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neurologist, researcher and university professor
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neurologue, chercheur et professeur d'université
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ricercatore
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研究者
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name
Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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Nicolas Dupré
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P106
P69
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P31
P496
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P6634
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