Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architectureDe novo mutations in moderate or severe intellectual disabilityConnexin46 mutations in autosomal dominant congenital cataract.Variation in genome-wide mutation rates within and between human familiesGenome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorderGenetic perspective on the role of the autophagy-lysosome pathway in Parkinson diseaseMeta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsC9orf72 repeat expansions are a rare genetic cause of parkinsonismImmunoChip study implicates antigen presentation to T cells in narcolepsyTruncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaGene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumoursVAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland familiesDisruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityDe novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairmentAlsin is partially associated with centrosome in human cellsLoss of association of REEP2 with membranes leads to hereditary spastic paraplegiaIdentification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic IsolatesMutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19Functional analysis of missense variants in the TRESK (KCNK18) K channelKrit1 missense mutations lead to splicing errors in cerebral cavernous malformationDirect measure of the de novo mutation rate in autism and schizophrenia cohortsDe novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.Mutations in SYNGAP1 in autosomal nonsyndromic mental retardationMutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type IINarcolepsy is strongly associated with the T-cell receptor alpha locusMutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaHereditary Motor and Sensory Neuropathy with Agenesis of the Corpus CallosumPMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.Mutant TDP-43 and FUS cause age-dependent paralysis and neurodegeneration in C. elegansAutomated design of hammerhead ribozymes and validation by targeting the PABPN1 gene transcript.FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosisMutation screening of FOXP2 in individuals diagnosed with autistic disorderMutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosisSpectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegiaHnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophyThe K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosumFunctional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsyGenome-wide association study reveals two new risk loci for bipolar disorder
P50
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P50
description
Canadees arts
@nl
Canadian professor, neurologist and geneticist
@en
dokter asal Kanada
@id
kanadischer Arzt
@de
médicu canadianu
@ast
neurolog og genetiker
@da
professeur, neurologue et généticien canadien
@fr
طبيب كندي
@ar
name
Guy A. Rouleau
@ast
Guy A. Rouleau
@ca
Guy A. Rouleau
@da
Guy A. Rouleau
@de
Guy A. Rouleau
@en
Guy A. Rouleau
@es
Guy A. Rouleau
@fo
Guy A. Rouleau
@fr
Guy A. Rouleau
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Guy A. Rouleau
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type
label
Guy A. Rouleau
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Guy A. Rouleau
@ca
Guy A. Rouleau
@da
Guy A. Rouleau
@de
Guy A. Rouleau
@en
Guy A. Rouleau
@es
Guy A. Rouleau
@fo
Guy A. Rouleau
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Guy A. Rouleau
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Guy A. Rouleau
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altLabel
G A Rouleau
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G Rouleau
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G. A. Rouleau
@en
G. Rouleau
@en
Guy A Rouleau
@en
Guy Armand Rouleau
@en
Guy Armand Rouleau
@fr
Guy Rouleau
@en
prefLabel
Guy A. Rouleau
@ast
Guy A. Rouleau
@ca
Guy A. Rouleau
@da
Guy A. Rouleau
@de
Guy A. Rouleau
@en
Guy A. Rouleau
@es
Guy A. Rouleau
@fo
Guy A. Rouleau
@fr
Guy A. Rouleau
@ga
Guy A. Rouleau
@is
P106
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0000-0001-8403-1418
P569
1957-01-01T00:00:00Z