Guy A. Rouleau

Department of Medicine, Universite de Montreal

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 11	2011

Other Publications

Article	Year
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. American journal of human genetics\| PubMed ID: 11706389	2002
Neuropsychological impairments in neuroleptic-responder vs. -nonresponder schizophrenic patients and healthy volunteers. Schizophrenia research\| PubMed ID: 11738536	2002
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Archives of neurology\| PubMed ID: 11843700	2002
Familial amyotrophic lateral sclerosis. Muscle & nerve\| PubMed ID: 11870681	2002
Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation. American journal of human genetics\| PubMed ID: 11941540	2002
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nature genetics\| PubMed ID: 11992121	2002
Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population. European journal of human genetics : EJHG\| PubMed ID: 12107814	2002
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nature genetics\| PubMed ID: 12368912	2002
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Annals of neurology\| PubMed ID: 12509863	2003
Dopamine beta-hydroxylase (DBH) gene and schizophrenia phenotypic variability: a genetic association study. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 12555232	2003
Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). Epilepsy research\| PubMed ID: 12576172	2003
Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 12619777	2003
Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. American journal of medical genetics. Part A\| PubMed ID: 12655497	2003
NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH. Neuromolecular medicine\| PubMed ID: 12665675	2003
Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 12774951	2003
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. American journal of human genetics\| PubMed ID: 12802785	2003
[Severe neuropathy with agenesis of the corpus callosum]. MÃ©decine sciences : M/S\| PubMed ID: 12836214	2003
Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia. Genomics\| PubMed ID: 12837267	2003
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Annals of neurology\| PubMed ID: 12838516	2003
Mutational analysis of 206 families with cavernous malformations. Journal of neurosurgery\| PubMed ID: 12854741	2003
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. Human molecular genetics\| PubMed ID: 12944420	2003
HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 12945950	2003
Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nature genetics\| PubMed ID: 12958597	2003
Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. American journal of ophthalmology\| PubMed ID: 14516808	2003
Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Human molecular genetics\| PubMed ID: 14519685	2003
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. American journal of human genetics\| PubMed ID: 14624391	2003
Absence of mutations in the hypoxia response element of VEGF in ALS. Muscle & nerve\| PubMed ID: 14639597	2003
Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis. Archives of neurology\| PubMed ID: 14676054	2003
Identification of lithium-regulated genes in cultured lymphoblasts of lithium responsive subjects with bipolar disorder. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology\| PubMed ID: 14735134	2004
Mutational analysis of neurotensin in familial restless legs syndrome. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 14743366	2004
Analysis of CAG repeat expansions in restless legs syndrome. Sleep\| PubMed ID: 14746390	2003
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. American journal of human genetics\| PubMed ID: 15060842	2004
CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. Annals of neurology\| PubMed ID: 15122722	2004
The 14q restless legs syndrome locus in the French Canadian population. Annals of neurology\| PubMed ID: 15174026	2004
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. The Journal of biological chemistry\| PubMed ID: 15322088	2004
TAU mutations are not a predominant cause of frontotemporal dementia in Canadian patients. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 15376481	2004
NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 15389766	2005
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Annals of neurology\| PubMed ID: 15455396	2004
A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. Annals of neurology\| PubMed ID: 15455397	2004
Autosomal dominant juvenile myoclonic epilepsy and GABRA1. Advances in neurology\| PubMed ID: 15508928	2005
CAA insertion polymorphism in the 3'UTR of Nogo gene on 2p14 is not associated with schizophrenia. Brain research. Molecular brain research\| PubMed ID: 15661375	2005
Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice. Neurobiology of disease\| PubMed ID: 15755680	2005
PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. Neurobiology of disease\| PubMed ID: 15755682	2005
Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity. Archives of neurology\| PubMed ID: 15824258	2005
Investigating responders to lithium prophylaxis as a strategy for mapping susceptibility genes for bipolar disorder. Progress in neuro-psychopharmacology & biological psychiatry\| PubMed ID: 15946781	2005
Inherited occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel: experiences in setting up a worldwide DNA collection. The Journal of heredity\| PubMed ID: 15958797	2005
Increased prevalence of schizophrenia spectrum disorders in relatives of neuroleptic-nonresponsive schizophrenic patients. Schizophrenia research\| PubMed ID: 16005383	2005
Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. The European journal of neuroscience\| PubMed ID: 16029191	2005
Sacred disease secrets revealed: the genetics of human epilepsy. Human molecular genetics\| PubMed ID: 16049035	2005
Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts. Human molecular genetics\| PubMed ID: 16087686	2005
Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy. Traffic (Copenhagen, Denmark)\| PubMed ID: 16101680	2005
Acute adverse reactions associated with angiotensin-converting enzyme inhibitors: genetic factors and therapeutic implications. Expert opinion on pharmacotherapy\| PubMed ID: 16144506	2005
A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors. American journal of human genetics\| PubMed ID: 16175507	2005
Clinical stringency greatly improves mutation detection in Rett syndrome. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 16225173	2005
Sacred disease secrets revealed: the genetics of human epilepsy. Human molecular genetics\| PubMed ID: 16278970	2005
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Human mutation\| PubMed ID: 16287142	2005
Monogenic epilepsies in humans: molecular mechanisms and relevance for the study of intractable epilepsy. Advances in neurology\| PubMed ID: 16383149	2006
Role of the neurofibromatosis type 2 gene in the development of tumors of the nervous system. Neurosurgical focus\| PubMed ID: 16398470	2005
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nature genetics\| PubMed ID: 16462743	2006
Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochimica et biophysica acta\| PubMed ID: 16503123	2006
Human monogenic disorders - a source of novel drug targets. Nature reviews. Genetics\| PubMed ID: 16534513	2006
Common genetic vulnerability to depressive symptoms and coronary artery disease: a review and development of candidate genes related to inflammation and serotonin. Psychosomatic medicine\| PubMed ID: 16554382	2006
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 16736723	2006
The dynamism of PABPN1 nuclear inclusions during the cell cycle. Neurobiology of disease\| PubMed ID: 16860991	2006
Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochimica et biophysica acta\| PubMed ID: 17110089	2007
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nature genetics\| PubMed ID: 17159980	2007
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American journal of human genetics\| PubMed ID: 17160902	2007
Purification of the NF2 tumor suppressor protein from human erythrocytes. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 17168165	2006
Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Archives of neurology\| PubMed ID: 17296840	2007
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. Human mutation\| PubMed ID: 17345589	2007
[Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia]. MÃ©decine sciences : M/S\| PubMed ID: 17349286	2007
Additive effects of obesity and TCF7L2 variants on risk for type 2 diabetes among cardiac patients. Diabetes care\| PubMed ID: 17351281	2007
Autosomal dominant primary lateral sclerosis. Neurology\| PubMed ID: 17404201	2007
Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy. Neurobiology of disease\| PubMed ID: 17418585	2007
Characterization of a novel SPG3A deletion in a French-Canadian family. Annals of neurology\| PubMed ID: 17427918	2007
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Annals of neurology\| PubMed ID: 17503513	2007
Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 17510944	2007
A stop codon mutation in SCN9A causes lack of pain sensation. Human molecular genetics\| PubMed ID: 17597096	2007
SPG4 founder effect in French Canadians with hereditary spastic paraplegia. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 17598600	2007
Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians. Sleep medicine\| PubMed ID: 17644423	2008
No association between the DRD3 Ser9Gly polymorphism and schizophrenia. Schizophrenia research\| PubMed ID: 17698325	2008
LRRK2 is not a significant cause of Parkinson's disease in French-Canadians. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 17803032	2007
Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband. Neuroscience research\| PubMed ID: 17897745	2007
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of neurology\| PubMed ID: 17923634	2007
[The medical research at Sainte-Justine: to grow healthy]. MÃ©decine sciences : M/S\| PubMed ID: 18021696	2007
ALS predisposition modifiers: knock NOX, who's there? SOD1 mice still are. European journal of human genetics : EJHG\| PubMed ID: 18043718	2008
Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis? Annals of neurology\| PubMed ID: 18074357	2007
Genetics of familial amyotrophic lateral sclerosis. Neurology\| PubMed ID: 18180444	2008
A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11. American journal of medical genetics. Part A\| PubMed ID: 18241056	2008
A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1. Archives of neurology\| PubMed ID: 18332252	2008
Autosomal dominant sensory ataxia: a neuroaxonal dystrophy. Acta neuropathologica\| PubMed ID: 18347805	2008
PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression. Experimental cell research\| PubMed ID: 18367172	2008
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nature genetics\| PubMed ID: 18372902	2008
Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1. Human molecular genetics\| PubMed ID: 18397876	2008
A significant increase in breathing amplitude precedes sleep bruxism. Chest\| PubMed ID: 18490400	2008
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. The Journal of clinical investigation\| PubMed ID: 18521183	2008
Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. Human molecular genetics\| PubMed ID: 18558633	2008
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3. Human molecular genetics\| PubMed ID: 18566107	2008
50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases\| PubMed ID: 18608091	2008
Novel de novo SHANK3 mutation in autistic patients. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 18615476	2009
Genetic predictors of depressive symptoms in cardiac patients. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 18618671	2009
A novel mutation in a large French-Canadian family with LGMD1B. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 18714801	2008
Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Human molecular genetics\| PubMed ID: 18801879	2008
Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 18946881	2009
A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. Archives of neurology\| PubMed ID: 19001169	2008
The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease. Human mutation\| PubMed ID: 19105188	2009
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Human molecular genetics\| PubMed ID: 19126776	2009
Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. The Journal of allergy and clinical immunology\| PubMed ID: 19178938	2009
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. The New England journal of medicine\| PubMed ID: 19196676	2009
No TARDBP mutations in a French Canadian population of patients with Parkinson disease. Archives of neurology\| PubMed ID: 19204172	2009
Recent advances in the genetics of amyotrophic lateral sclerosis. Current neurology and neuroscience reports\| PubMed ID: 19348708	2009
[Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II]. MÃ©decine sciences : M/S\| PubMed ID: 19361385	2009
Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nature genetics\| PubMed ID: 19412176	2009
No association between SRGAP3/MEGAP haploinsufficiency and mental retardation. Archives of neurology\| PubMed ID: 19433673	2009
A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy. Clinical neurology and neurosurgery\| PubMed ID: 19523753	2009
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Annals of neurology\| PubMed ID: 19557857	2009
Global brain gene expression analysis links glutamatergic and GABAergic alterations to suicide and major depression. PloS one\| PubMed ID: 19668376	2009
Association of intronic variants of the BTBD9 gene with Tourette syndrome. Archives of neurology\| PubMed ID: 19822783	2009
Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nature reviews. Genetics\| PubMed ID: 19823194	2009
A mutation that creates a pseudoexon in SOD1 causes familial ALS. Annals of human genetics\| PubMed ID: 19847927	2009
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC genomics\| PubMed ID: 19917086	2009
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Human molecular genetics\| PubMed ID: 19959528	2010
Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases\| PubMed ID: 20001489	2010
Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 20007371	2009
Characterization of sirtuin inhibitors in nematodes expressing a muscular dystrophy protein reveals muscle cell and behavioral protection by specific sirtinol analogues. Journal of medicinal chemistry\| PubMed ID: 20041717	2010
Genome-wide TDT analysis in French-Canadian families with Tourette syndrome. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 20169783	2010
[De novo mutations in SYNGAP1 associated with non-syndromic mental retardation]. MÃ©decine sciences : M/S\| PubMed ID: 20188038	2010
Cross-talk between canonical Wnt signaling and the sirtuin-FoxO longevity pathway to protect against muscular pathology induced by mutant PABPN1 expression in C. elegans. Neurobiology of disease\| PubMed ID: 20227501	2010
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 20385823	2010
Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. Archives of neurology\| PubMed ID: 20385924	2010
Mutations in DCC cause congenital mirror movements. Science (New York, N.Y.)\| PubMed ID: 20431009	2010
Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases. Archives of neurology\| PubMed ID: 20457962	2010
Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? Journal of neurology, neurosurgery, and psychiatry\| PubMed ID: 20460594	2010
Association of NPAS3 exonic variation with schizophrenia. Schizophrenia research\| PubMed ID: 20466522	2010
Integrative gene-tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis. Human molecular genetics\| PubMed ID: 20530642	2010
Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome. Cerebellum (London, England)\| PubMed ID: 20559786	2010
De novo truncating mutation in Kinesin 17 associated with schizophrenia. Biological psychiatry\| PubMed ID: 20646681	2010
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. American journal of human genetics\| PubMed ID: 20797689	2010
Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens. Lancet neurology\| PubMed ID: 20801719	2010
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Science translational medicine\| PubMed ID: 20844286	2010
Restless legs syndrome mothers and attention-deficit/hyperactivity disorder children: what happened between them? Sleep medicine\| PubMed ID: 20851048	2011
Early impact of 5-HTTLPR polymorphism on the neural correlates of sadness. Neuroscience letters\| PubMed ID: 20851164	2010
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nature medicine\| PubMed ID: 20871611	2010
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. American journal of human genetics\| PubMed ID: 20950788	2010
Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis. Neurobiology of aging\| PubMed ID: 21074290	2011
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. Brain : a journal of neurology\| PubMed ID: 21115467	2011
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American journal of human genetics\| PubMed ID: 21129721	2010
Cellular expression of the K+-Cl- cotransporter KCC3 in the central nervous system of mouse. Brain research\| PubMed ID: 21147077	2011
Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis. Journal of human genetics\| PubMed ID: 21160488	2011
Common variants in P2RY11 are associated with narcolepsy. Nature genetics\| PubMed ID: 21170044	2011
Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis. Archives of neurology\| PubMed ID: 21220648	2011
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biological psychiatry\| PubMed ID: 21237447	2011
TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1. Human molecular genetics\| PubMed ID: 21257637	2011
Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases\| PubMed ID: 21261515	2011
LINGO1 variants in the French-Canadian population. PloS one\| PubMed ID: 21264305	2011
Where are the missing pieces of the schizophrenia genetics puzzle? Current opinion in genetics & development\| PubMed ID: 21277191	2011
Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation. Orphanet journal of rare diseases\| PubMed ID: 21294910	2011
Intellectual disability without epilepsy associated with STXBP1 disruption. European journal of human genetics : EJHG\| PubMed ID: 21364700	2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. American journal of human genetics\| PubMed ID: 21376300	2011
A population genetic approach to mapping neurological disorder genes using deep resequencing. PLoS genetics\| PubMed ID: 21383861	2011
No effect on SOD1 splicing by TARDP or FUS mutations. Archives of neurology\| PubMed ID: 21403029	2011
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Human genetics\| PubMed ID: 21424692	2011
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC medical genomics\| PubMed ID: 21439053	2011
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. Human molecular genetics\| PubMed ID: 21441247	2011
The case for locus-specific databases. Nature reviews. Genetics\| PubMed ID: 21540879	2011
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum. The Journal of biological chemistry\| PubMed ID: 21628467	2011
Variation in genome-wide mutation rates within and between human families. Nature genetics\| PubMed ID: 21666693	2011
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Archives of neurology\| PubMed ID: 21670397	2011
Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis. Annals of neurology\| PubMed ID: 21710629	2011
The ongoing dissection of the genetic architecture of autistic spectrum disorder. Molecular autism\| PubMed ID: 21740537	2011
Increased exonic de novo mutation rate in individuals with schizophrenia. Nature genetics\| PubMed ID: 21743468	2011
Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments. Brain : a journal of neurology\| PubMed ID: 21752789	2011
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. PLoS genetics\| PubMed ID: 21779176	2011
Early influence of the rs4675690 on the neural substrates of sadness. Journal of affective disorders\| PubMed ID: 21807415	2011
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. American journal of human genetics\| PubMed ID: 21820098	2011
FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis. PLoS genetics\| PubMed ID: 21829392	2011
Letter to the editors: comment on "Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families" Journal of neurology\| PubMed ID: 21847616	2011
Migraine: Role of the TRESK two-pore potassium channel. The international journal of biochemistry & cell biology\| PubMed ID: 21855646	2011
Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques\| PubMed ID: 21856586	2011
A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema. Human mutation\| PubMed ID: 21898657	2011
Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms. F1000 biology reports\| PubMed ID: 21941597	2011
A role for ubiquilin 2 mutations in neurodegeneration. Nature reviews. Neurology\| PubMed ID: 21989241	2011
Voltage-gated Na+ channel Î²1B: a secreted cell adhesion molecule involved in human epilepsy. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 21994374	2011
Exome sequencing reveals SPG11 mutations causing juvenile ALS. Neurobiology of aging\| PubMed ID: 22154821	2012
Novel FUS Deletion in a Patient With Juvenile Amyotrophic Lateral Sclerosis. Archives of neurology\| PubMed ID: 22248478	2012
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. European journal of human genetics : EJHG\| PubMed ID: 22258530	2012
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models. Human molecular genetics\| PubMed ID: 22337953	2012