P. Dion

J. Rapoport, R. Joober, G. Rouleau, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Brittany N. Lasseigne, W. Chung, D. Goldstein, 2015, Science.

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

P. Beauchemin, G. Rouleau, A. Dionne‐Laporte, 2014, Cerebellum & Ataxias.

Purification of the NF2 Tumor Suppressor Protein from Human Erythrocytes

G. Rouleau, A. Chishti, P. Dion, 2006, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Genetic Basis of ALS

P. Dion, G. Rouleau, J. P. Ross, 2021 .

Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms

G. Rouleau, P. Dion, C. Vande Velde, 2011, F1000 biology reports.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

B. McConkey, V. Meininger, F. Salachas, 2008, Nature Genetics.

Recent advances in the genetics of amyotrophic lateral sclerosis

G. Rouleau, P. Dion, H. Daoud, 2009, Current neurology and neuroscience reports.

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden

P. Andersen, V. Meininger, F. Salachas, 2008, Neurology.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Myc Is an Essential Negative Regulator of Platelet-Derived Growth Factor Beta Receptor Expression

L. M. Facchini, John M. Sedivy, Linda Z. Penn, 2000, Molecular and Cellular Biology.

Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor

G. Deuschl, W. Poewe, D. Berg, 2020, Movement disorders : official journal of the Movement Disorder Society.

Multi-omics integration of the phenome, transcriptome and genome highlights genes and pathways relevant to essential tremor

A. Rajput, G. Rouleau, D. Spiegelman, 2019, bioRxiv.

No effect on SOD1 splicing by TARDP or FUS mutations.

G. Rouleau, P. Dion, V. Belzil, 2011, Archives of neurology.

Questioning the association of the STMN2 dinucleotide repeat with ALS

B. Weisburd, G. Rouleau, S. Farhan, 2022, medRxiv.

Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project

G. Rouleau, D. Spiegelman, P. Dion, 2020, Movement disorders : official journal of the Movement Disorder Society.

Oxidized/misfolded superoxide dismutase‐1: the cause of all amyotrophic lateral sclerosis?

G. Rouleau, P. Dion, P. Valdmanis, 2007, Annals of neurology.

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.

V. Meininger, F. Salachas, G. Rouleau, 2012, Archives of neurology.

TDP–43, Protein Aggregation, and Amyotrophic Lateral Sclerosis

G. Rouleau, P. Dion, V. Belzil, 2010 .

Comparative Analysis of the Expression Profile of Wnk1 and Wnk1/Hsn2 Splice Variants in Developing and Adult Mouse Tissues

G. Rouleau, M. Shekarabi, J. Laganière, 2013, PloS one.

Letter to the editors: comment on “Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families”

G. Rouleau, M. Shekarabi, P. Dion, 2012, Journal of Neurology.

Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids

G. Rouleau, S. Stifani, D. Rochefort, 2022, bioRxiv.

MEIS1 and Restless Legs Syndrome: A Comprehensive Review

G. Rouleau, P. Dion, Faezeh Sarayloo, 2019, Front. Neurol..

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2016, American journal of human genetics.

Moyamoya Disease Susceptibility Gene RNF213 Regulates Endothelial Barrier Function

L. Germain, G. Rouleau, F. Auger, 2022, Stroke.

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K 1 /Cl 2

G. Rouleau, M. Shekarabi, D. Rochefort, 2008 .

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

G. Rouleau, M. Shekarabi, J. Laganière, 2008, Human molecular genetics.

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

G. Rouleau, A. Dionne‐Laporte, G. Turecki, 2019, PloS one.

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.

M. Jog, W. Pryse-Phillips, G. Rouleau, 2012, American journal of human genetics.

Genetics of essential tremor: From phenotype to genes, insights from both human and mouse studies

G. Rouleau, P. Dion, Jean-François Schmouth, 2014, Progress in Neurobiology.

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor

G. Rouleau, D. Spiegelman, D. Rochefort, 2020, Frontiers in Genetics.

Transcriptomic changes resulting from STK32B overexpression identifies pathways potentially relevant to essential tremor

G. Rouleau, D. Spiegelman, D. Rochefort, 2019, bioRxiv.

Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis

V. Meininger, F. Salachas, J. Bouchard, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

LINGO1 Variants in the French-Canadian Population

G. Rouleau, J. Rivière, M. Panisset, 2011, PloS one.

Multimodal neuroimaging analysis in patients with SYNE1 Ataxia

G. Rouleau, J. Pedroso, O. Barsottini, 2018, Journal of the Neurological Sciences.

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

G. Rouleau, Z. Gan-Or, P. Dion, 2015, Autophagy.

Genetic markers of Restless Legs Syndrome in Parkinson disease.

A. Mirelman, Nir Giladi, R. Postuma, 2015, Parkinsonism & related disorders.

Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder

A. Desautels, R. Postuma, J. Montplaisir, 2015, Journal of Molecular Neuroscience.

Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7

A. Dagher, M. Tarnopolsky, O. Suchowersky, 2021, Movement disorders : official journal of the Movement Disorder Society.

ALS: Recent Developments from Genetics Studies

G. Rouleau, P. Dion, Martine Therrien, 2016, Current Neurology and Neuroscience Reports.

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

J. Bouchard, G. Rouleau, W. Camu, 2011, Neurobiology of Aging.

FET proteins regulate lifespan and neuronal integrity

G. Rouleau, J. A. Parker, P. Dion, 2016, Scientific Reports.

Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans

G. Rouleau, J. A. Parker, P. Dion, 2013, PloS one.

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

A. Desautels, B. Boeve, T. Ferman, 2018, Movement disorders : official journal of the Movement Disorder Society.

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia

G. Rouleau, A. Gadelha, J. Pedroso, 2019, The Cerebellum.

A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.

G. Rouleau, P. Dion, A. Sefiani, 2014, Pediatric neurology.

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects

M. Bowerman, J. Bouchard, G. Rouleau, 2017, Neurobiology of Disease.

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

M. Lassonde, G. Rouleau, A. Dionne‐Laporte, 2015, European Journal of Human Genetics.

SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease

W. Chung, K. Marder, S. Fahn, 2019, Movement disorders : official journal of the Movement Disorder Society.

Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.

V. Meininger, G. Rouleau, W. Camu, 2011, Archives of neurology.

Association of Long ATXN 2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

V. Meininger, G. Rouleau, W. Camu, 2011 .

SYNE1 mutations cause autosomal‐recessive ataxia with retained reflexes in Brazilian patients

G. Rouleau, A. Dionne‐Laporte, J. Pedroso, 2016, Movement disorders : official journal of the Movement Disorder Society.

ALS predisposition modifiers: Knock NOX, who's there? SOD1 mice still are

G. Rouleau, P. Dion, P. Valdmanis, 2008, European Journal of Human Genetics.

Investigation of C9orf72 repeat expansions in Parkinson's disease

N. Jodoin, G. Rouleau, S. Chouinard, 2013, Neurobiology of Aging.

Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.

P. Pástor, A. Rajput, G. Rouleau, 2020, Brain : a journal of neurology.

Investigating the association and causal relationship between restless legs syndrome and essential tremor.

G. Rouleau, S. Girard, P. Dion, 2019, Parkinsonism & related disorders.

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

A. Desautels, K. Marder, A. Mirelman, 2015, Annals of clinical and translational neurology.

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis

G. Rouleau, E. Sidransky, Z. Gan-Or, 2016, Neurology: Genetics.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

A. Ferbert, A. Durr, S. Forlani, 2013, American journal of human genetics.

Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease

D. Arkadir, E. Rogaeva, G. Rouleau, 2021, Neurology: Genetics.

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

Robert H. Brown, A. Fujiyama, A. Toyoda, 2013, American journal of human genetics.

Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor

G. Rouleau, P. Dion, J. P. Ross, 2022, NPJ genomic medicine.

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients

V. Meininger, G. Rouleau, W. Camu, 2013, Neurobiology of Aging.

Genetic and epidemiological characterization of restless legs syndrome in Québec.

G. Rouleau, Z. Gan-Or, P. Dion, 2020, Sleep.

Case–Control and Family‐Based Association Study of Specific PTPRD Variants in Restless Legs Syndrome

A. Desautels, J. Montplaisir, G. Rouleau, 2016, Movement disorders clinical practice.

Rare and common variant analyses of amyotrophic lateral sclerosis in the French-Canadian genome

G. Rouleau, S. Farhan, D. Spiegelman, 2022, medRxiv.

A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.

G. Gigli, G. Rouleau, M. Bengala, 2016, European journal of medical genetics.

Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis

B. Weisburd, G. Rouleau, S. Farhan, 2022, Neurology. Genetics.

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

G. Rouleau, J. Laganière, R. Gaudet, 2012, Human molecular genetics.

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.

J. Langlais, B. Brais, G. Rouleau, 2012, Archives of neurology.

CYP7B1 Mutations in French-Canadian Hereditary Spastic Paraplegia Subjects

B. Brais, G. Rouleau, P. Dion, 2012, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Mutations in FUS cause FALS and SALS in French and French Canadian populations

V. Meininger, F. Salachas, J. Bouchard, 2009, Neurology.

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

A. Mes-Masson, B. Brais, H. Van Esch, 2011, American journal of human genetics.

Characterization of a novel SPG3A deletion in a French‐Canadian family

C. Blackstone, B. Brais, G. Rouleau, 2007, Annals of neurology.

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia

G. Rouleau, M. Strong, W. Camu, 2012, European Journal of Human Genetics.

The FUS about arginine methylation in ALS and FTLD

G. Rouleau, P. Dion, H. Kaneb, 2012, The EMBO journal.

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

J. Bouchard, G. Rouleau, W. Camu, 2012, Neurobiology of Aging.

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis

J. Bouchard, G. Rouleau, W. Camu, 2011, Journal of Human Genetics.

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.

V. Meininger, G. Rouleau, P. Drapeau, 2013, Human molecular genetics.

UBQLN2 mutations are rare in French and French–Canadian amyotrophic lateral sclerosis

V. Meininger, F. Salachas, J. Bouchard, 2012, Neurobiology of Aging.

Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens

G. Rouleau, P. Dion, V. Belzil, 2010, The Lancet Neurology.

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia

J. Rapoport, G. Rouleau, C. Laurent, 2018, Molecular Psychiatry.

Restless legs syndrome‐associated MEIS1 risk variant influences iron homeostasis

J. Montplaisir, G. Rouleau, G. Turecki, 2011, Annals of neurology.

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues

G. Rouleau, M. Strong, L. Zinman, 2019, Neurology: Genetics.

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

B. Brais, G. Rouleau, P. Dion, 2015, neurogenetics.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

A. Durr, J. Bouchard, S. Forlani, 2013, JAMA neurology.

C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder

A. Desautels, R. Postuma, J. Montplaisir, 2014, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson’s Disease with Opposite Effects

Y. Dauvilliers, G. Rouleau, R. Allen, 2018, Journal of Molecular Neuroscience.

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder.

M. Alda, G. Rouleau, D. Spiegelman, 2013, Genome.

Investigation of the causal relationship between ALS and autoimmune disorders: a Mendelian randomization study

D. Spiegelman, P. Dion, G. Rouleau, 2022, BMC Medicine.

Reliability and correlation of mixture cell correction in methylomic and transcriptomic blood data

M. Krebs, O. Kebir, G. Rouleau, 2019, BMC Research Notes.

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.

A. Desautels, J. Montplaisir, G. Rouleau, 2015, Sleep medicine.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

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*

G. Rouleau, J. Rivière, M. Shekarabi, 2011, The Journal of Biological Chemistry.

MAJOR PATHOGENIC MECHANISM IN HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH AGENESIS OF THE CORPUS CALLOSUM

G. Rouleau, J. Rivière, M. Shekarabi, 2011 .

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

A. Dagher, G. Rouleau, Z. Gan-Or, 2016, Neurology: Genetics.

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome

G. Rouleau, D. Spiegelman, D. Rochefort, 2020, European Journal of Human Genetics.

Copy-Number Variants in The Contactin-5 Gene Are a Potential Risk Factor for Autism Spectrum Disorder

T. Banaschewski, A. Bokde, H. Lemaître, 2021, Research in Autism Spectrum Disorders.

LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis.

G. Rouleau, Z. Gan-Or, A. Orr-Urtreger, 2015, Parkinsonism & related disorders.

CPT1A Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders

B. Feenstra, F. Geller, M. Melbye, 2017, Circulation. Cardiovascular genetics.

Association of Essential Tremor With Novel Risk Loci

M. Hallett, J. Jankovic, G. Deuschl, 2022, JAMA neurology.

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

R. Tremblay, M. Dubé, G. Rouleau, 2016, PloS one.

De novo variants in sporadic cases of childhood onset schizophrenia

J. Rapoport, K. Ahn, R. Joober, 2015, European Journal of Human Genetics.

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

G. Rouleau, K. Kahle, P. Dion, 2015, Front. Cell. Neurosci..

The Mutational Spectrum of Neurodevelopmental Disorders

G. Rouleau, P. Dion, N. Merner, 2015 .

Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

M. Krebs, M. Dubé, R. Joober, 2015, PloS one.

Dissection of genetic factors associated with amyotrophic lateral sclerosis

G. Rouleau, P. Dion, C. Leblond, 2014, Experimental Neurology.

Rare Variants in Complex Traits: Novel Identification Strategies and the Role of de novo Mutations

G. Rouleau, P. Dion, J. Gauthier, 2013, Human Heredity.

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

G. Rouleau, A. Piton, D. Rochefort, 2012, European Journal of Human Genetics.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways

Annelot M. Dekker, Ahmad Al Khleifat, N. Wray, 2021, medRxiv.

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Annelot M. Dekker, N. Wray, A. McRae, 2022, Science Translational Medicine.

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice

Simon E. Laganiere, J. Bouchard, B. Brais, 2005, Neurobiology of Disease.

hnRNP A1 and A/B Interaction with PABPN1 in Oculopharyngeal Muscular Dystrophy

B. Brais, G. Rouleau, J. Laganière, 2003, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

J. Bouchard, Andrew W. Folkmann, G. Rouleau, 2015, Human molecular genetics.

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

P. Andersen, V. Meininger, J. Bouchard, 2009, Proceedings of the National Academy of Sciences.

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis

V. Meininger, G. Rouleau, W. Camu, 2008, Journal of Medical Genetics.

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

G. Rouleau, J. Rivière, L. Faivre, 2008, The Journal of clinical investigation.

Genetic architecture and adaptations of Nunavik Inuit

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2019, Proceedings of the National Academy of Sciences.

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2015, PloS one.

Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome

G. Rouleau, P. Dion, H. Catoire, 2022, Communications Biology.

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

G. Rouleau, P. Dion, H. Daoud, 2009, Nature Reviews Genetics.

Evolution of a Human-Specific Tandem Repeat Associated with ALS.

E. Eichler, M. Kay, A. Gitler, 2020, American journal of human genetics.

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing

M. Lawton, G. Rouleau, B. Walcott, 2018, Human Genome Variation.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Exome sequencing in genetic disease: recent advances and considerations

G. Rouleau, P. Dion, J. Ross, 2020, F1000Research.

Transcriptional patterns of coexpression across autism risk genes converge on established and novel signatures of neurodevelopment

K. Brennand, Mei Wang, D. Ruderfer, 2022, medRxiv.

J. Sebat, C. Corsello, T. de Ravel, 2017, Journal of Medical Genetics.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Robert H. Brown, R. Petersen, B. Boeve, 2016, Nature Communications.

Genetic analysis of the FUS/TLS gene in essential tremor

E. Louis, G. Rouleau, L. Clark, 2013, European journal of neurology.

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

G. Rouleau, D. Spiegelman, É. Henrion, 2011, Archives of neurology.

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

G. Rouleau, P. Drapeau, D. Rochefort, 2010, Human molecular genetics.

A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS

G. Rouleau, P. Couratier, B. Funalot, 2009, Annals of human genetics.

Autosomal Recessive Cerebellar Ataxias

J. Bouchard, G. Rouleau, P. Dion, 2013 .

Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders

G. Rouleau, P. Dion, N. Merner, 2011, Clinical genetics.

Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis

M. Krebs, O. Kebir, I. Amado, 2021, Translational Psychiatry.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Jean-Pierre Bouchard, Mamede de Carvalho, Denis Brunet, 2015, Neurobiology of Aging.

A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors.

J. Rouleau, T. Foroud, M. Dubé, 2005, American journal of human genetics.

Where are the missing pieces of the schizophrenia genetics puzzle?

G. Rouleau, S. Girard, P. Dion, 2011, Current opinion in genetics & development.

Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.

G. Rouleau, P. Dion, C. Gaspar, 2005, Human molecular genetics.

CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation.

B. Brais, G. Rouleau, J. Laganière, 2000, Human molecular genetics.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

A Variant in XPNPEP 2 Is Associated with Angioedema Induced by Angiotensin I – Converting Enzyme Inhibitors

J. Rouleau, T. Foroud, M. Dubé, 2005 .

Schizophrenia Genetics: Putting All the Pieces Together

G. Rouleau, S. Girard, P. Dion, 2012, Current Neurology and Neuroscience Reports.

Clinical and genetic study of hereditary spastic paraplegia in Canada

O. Suchowersky, G. Rouleau, K. Boycott, 2016, Neurology: Genetics.

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

C. Shaw, C. Troakes, S. Al-Sarraj, 2016, Acta Neuropathologica Communications.

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement

N. Kharma, G. Rouleau, C. Néri, 2019, Molecular therapy. Nucleic acids.

Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy

B. Brais, G. Rouleau, C. Néri, 2018, Neurology.

PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy

B. Brais, G. Rouleau, J. Laganière, 2000, Annals of neurology.

An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

G. Rouleau, K. David, P. Dion, 2014, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy

P. Dion, E. Carney, A. Szuto, 2014 .

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

T. Foroud, G. Rouleau, A. Dionne‐Laporte, 2018, Scientific Reports.

Genetics of Intracranial Aneurysms.

Guy A Rouleau, G. Rouleau, P. Dion, 2018, Stroke.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

O. Suchowersky, G. Rouleau, P. Drapeau, 2016, American journal of human genetics.

Current targeted therapeutic strategies for oculopharyngeal muscular dystrophy: from pharmacological to RNA replacement and gene editing therapies

N. Kharma, G. Rouleau, C. Néri, 2016 .

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

J. Julien, G. Rouleau, P. Drapeau, 2008, Human molecular genetics.

MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.

J. Montplaisir, G. Rouleau, J. Rivière, 2009, Human molecular genetics.

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.

G. Rouleau, S. Raskin, P. Dion, 2015, JAMA neurology.

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.

Guy A Rouleau, Ute Woehlbier, Robert H. Brown, 2015, Gene.

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

A. Desautels, R. Postuma, J. Montplaisir, 2016, Neurobiology of Aging.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

A. Rajput, G. Rouleau, M. Panisset, 2018, Molecular Neurobiology.

Exome-wide rare variant analysis in familial essential tremor.

D. Nickerson, E. Tolosa, M. Bamshad, 2020, Parkinsonism & related disorders.

Genome-wide estimates of heritability and genetic correlations in Essential Tremor

M. Nalls, A. Singleton, C. Blauwendraat, 2019, bioRxiv.

Molecular Genetics of Essential Tremor

G. Rouleau, P. Dion, Gabrielle R. Houle, 2018, eLS.

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

A. Rajput, G. Rouleau, M. Panisset, 2017, Movement disorders : official journal of the Movement Disorder Society.

Genome-wide association study in essential tremor identifies three new loci

Dietrich Haubenberger, Mark Hallett, Günther Deuschl, 2016, Brain : a journal of neurology.

Molecular genetic studies of DMT1 on 12q in French‐Canadian restless legs syndrome patients and families

A. Desautels, J. Montplaisir, M. Dubé, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Schwannomin Isoform-1 Interacts with Syntenin via PDZ Domains*

G. Rouleau, A. Chishti, J. Laganière, 2001, The Journal of Biological Chemistry.

Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies.

Jack M. Fu, K. Brennand, S. Erdin, 2023, Cell genomics.

Convergent transcriptomic targets of propranolol and primidone identify potential biomarkers for essential tremor

G. Rouleau, P. Dion, Charles-Etienne Castonguay, 2021, bioRxiv.

Chronic lithium treatment alters the excitatory/inhibitory balance of synaptic networks and reduces mGluR5–PKC signalling in mouse cortical neurons

M. Alda, P. Séguéla, N. Kuhlmann, 2021, Journal of psychiatry & neuroscience : JPN.

Chronic lithium treatment alters the excitatory/inhibitory balance of synaptic networks and reduces mGluR5-PKC signaling

P. Séguéla, N. Kuhlmann, G. Rouleau, 2020, bioRxiv.

Increased expression of genetically-regulated FLT3 implicated in Tourette’s Syndrome

G. Rouleau, P. Dion, H. Catoire, 2019, bioRxiv.

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

T. Foroud, G. Rouleau, A. Dionne‐Laporte, 2018, Scientific Reports.

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2018, BMC Pediatrics.

Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

R. Joober, G. Rouleau, D. Spiegelman, 2019, Nature Communications.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

P. Awadalla, S. Moss, G. Rouleau, 2014, EMBO reports.

Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition

Clifford J. Woolf, Guy A. Rouleau, G. Rouleau, 2016, Science Signaling.

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.

G. Rouleau, A. Dionne‐Laporte, G. Patrinos, 2015, European journal of medical genetics.

Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes

G. Rouleau, P. Dion, F. Akçimen, 2020, Communications Biology.

Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes

G. Rouleau, P. Dion, F. Akçimen, 2020, Communications Biology.

A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis

M. Lepage, M. Krebs, O. Kebir, 2020, Schizophrenia Research.

Exome sequencing reveals SPG11 mutations causing juvenile ALS

G. Rouleau, A. Dionne‐Laporte, P. Dion, 2012, Neurobiology of Aging.

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

M. Zatz, G. Rouleau, P. Drapeau, 2007, American journal of human genetics.

Oligogenicity, C9orf72 expansion, and variant severity in ALS

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2020, neurogenetics.

C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

F. Pasquier, A. Dürr, A. Brice, 2013, Brain : a journal of neurology.

Do variants in the coding regions of FOXP2, a gene implicated in speech disorder, confer a risk for congenital amusia?

Michael W. Weiss, I. Peretz, M. Dubé, 2022, Annals of the New York Academy of Sciences.

Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7

A. Dagher, M. Tarnopolsky, O. Suchowersky, 2020, medRxiv.

No TARDBP mutations in a French Canadian population of patients with Parkinson disease.

G. Rouleau, J. Rivière, P. Dion, 2009, Archives of neurology.

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome

G. Rouleau, D. Spiegelman, D. Rochefort, 2020, European Journal of Human Genetics.

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1

J. Montplaisir, G. Rouleau, G. Turecki, 2018, Scientific Reports.

Genetics of restless legs syndrome.

J. Winkelmann, G. Rouleau, D. Rye, 2006, Sleep medicine.

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors

C. Greenwood, M. Alda, G. Rouleau, 2018, Molecular Psychiatry.

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Í. Lopes-Cendes, G. Rouleau, O. Riess, 2019, bioRxiv.

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system

G. Rouleau, M. Shekarabi, J. Laganière, 2016, Modern Pathology.

Potassium-Chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics

G. Rouleau, M. Shekarabi, J. Laganière, 2013, PloS one.

Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum

L. Richards, N. Kurniawan, G. Rouleau, 2012, The Journal of Neuroscience.

Cellular expression of the K+–Cl− cotransporter KCC3 in the central nervous system of mouse

G. Rouleau, M. Shekarabi, J. Laganière, 2011, Brain Research.

Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective

G. Rouleau, A. Martinez, J. Pedroso, 2021, The Cerebellum.

The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis

G. Rouleau, Kristiana Salmon, P. Dion, 2022, European Journal of Human Genetics.

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients

J. Bouchard, G. Rouleau, P. Dion, 2015, Acta Neuropathologica Communications.

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

B. Brais, G. Rouleau, J. Pedroso, 2019, Front. Genet..

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

M. Daly, B. Neale, N. Katsanis, 2019, Human Genomics.

No evidence for GADL1 variation as a bipolar disorder susceptibility factor in a Caucasian lithium-responsive cohort.

M. Alda, G. Rouleau, G. Turecki, 2015, The American journal of psychiatry.

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1

J. Montplaisir, G. Rouleau, G. Turecki, 2018, Scientific Reports.

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

A. Desautels, G. Plazzi, R. Postuma, 2017, Neurobiology of Aging.

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

Y. Dauvilliers, G. Rouleau, A. Dionne‐Laporte, 2016, Neurobiology of Aging.

WNK1/HSN2 Mutation in Human Peripheral Neuropathy Deregulates KCC2 Expression and Posterior Lateral Line Development in Zebrafish (Danio rerio)

E. Brustein, G. Rouleau, P. Drapeau, 2013, PLoS genetics.

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia

G. Rouleau, A. Gadelha, O. Barsottini, 2019, The Cerebellum.

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

M. Daly, B. Neale, N. Katsanis, 2019, Human Genomics.

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

M. Krebs, R. Joober, G. Rouleau, 2013, Behavioral and Brain Functions.

Screening of novel restless legs syndrome–associated genes in French-Canadian families

G. Rouleau, A. Dionne‐Laporte, D. Spiegelman, 2018, Neurology: Genetics.

Progress in the genetics of restless legs syndrome: the path ahead in the era of whole-genome sequencing

G. Rouleau, P. Dion, F. Akçimen, 2022, Sleep.

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients

J. Bouchard, G. Rouleau, P. Dion, 2015, Acta neuropathologica communications.

Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort

N. Jodoin, G. Rouleau, J. Rivière, 2011, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective

G. Rouleau, A. Martinez, W. Marques, 2021, The Cerebellum.

Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis.

G. Rouleau, W. Camu, P. Dion, 2010, Archives of neurology.

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

I. Thiffault, B. Brais, G. Rouleau, 2011, Brain : a journal of neurology.

Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder

A. Desautels, R. Postuma, J. Montplaisir, 2015, Journal of Molecular Neuroscience.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

A. Rajput, G. Rouleau, M. Panisset, 2018, Molecular Neurobiology.

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French

Y. Dauvilliers, G. Rouleau, A. Dionne‐Laporte, 2017, Neurobiology of Aging.

Association study of essential tremor genetic loci in Parkinson's disease

Y. Dauvilliers, G. Rouleau, Z. Gan-Or, 2018, Neurobiology of Aging.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

O. Suchowersky, G. Rouleau, P. Drapeau, 2016, American journal of human genetics.

Investigation of the pathogenic RFC1 repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations

B. Brais, G. Rouleau, J. Pedroso, 2019, bioRxiv.

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

B. Brais, G. Rouleau, P. Dion, 2015, Neurogenetics.

Autosomal Recessive Cerebellar Ataxias

J. Bouchard, G. Rouleau, P. Dion, 2021, Handbook of the Cerebellum and Cerebellar Disorders.

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.

G. Rouleau, E. Sidransky, Z. Gan-Or, 2016, Neurology. Genetics.

Exploring the common genetic architecture of autism spectrum disorder using a novel multi-polygenic risk score approach

S. Jacquemont, P. Dion, B. Chaumette, 2023, Journal of the Neurological Sciences.

A polyalanine antibody for the diagnosis of oculopharyngeal muscular dystrophy and polyalanine-related diseases

P. McPherson, G. Rouleau, D. Rochefort, 2017 .

Post-concussion symptoms and chronic pain after mild traumatic brain injury are modulated by multiple locus effect in the BDNF gene through the expression of antisense: A pilot prospective control study

G. Lavigne, S. Khoury, G. Rouleau, 2017, Canadian journal of pain = Revue canadienne de la douleur.

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

J. Bouchard, Andrew W. Folkmann, G. Rouleau, 2015, Human molecular genetics.

Mutations in FUS cause FALS and SALS in French and French Canadian populations

V. Meininger, F. Salachas, J. Bouchard, 2009, Neurology.

Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis.

G. Rouleau, W. Camu, P. Dion, 2010, Archives of neurology.

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

A. Desautels, R. Postuma, J. Montplaisir, 2016, Neurobiology of Aging.

Rare Variants in Complex Traits: Novel Identification Strategies and the Role of de novo Mutations

G. Rouleau, P. Dion, J. Gauthier, 2013, Human Heredity.

Autosomal Recessive Cerebellar Ataxias

P. Dion, A. Noreau, Ikhlass Haj Salem, 2021, Handbook of the Cerebellum and Cerebellar Disorders.

Progress in the genetics of restless legs syndrome: the path ahead in the era of whole-genome sequencing

G. Rouleau, P. Dion, F. Akçimen, 2022, Sleep.

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

Y. Dauvilliers, G. Rouleau, D. Spiegelman, 2016, Neurobiology of Aging.

Multi-tissue probabilistic fine-mapping of transcriptome-wide association study identifies cis-regulated genes for miserableness

G. Rouleau, D. Spiegelman, P. Dion, 2019, bioRxiv.

Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis

G. Rouleau, P. Dion, H. Daoud, 2010, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, F. Baas, T. Meitinger, 2016, Nature Genetics.

Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.

V. Meininger, G. Rouleau, W. Camu, 2011, Archives of neurology.

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

G. Rouleau, J. Rivière, L. Faivre, 2008, Journal of Clinical Investigation.

Transcriptomic and epigenomic consequences of heterozygous loss of function mutations in AKAP11, the first large-effect shared risk gene for bipolar disorder and schizophrenia

P. Dion, B. Chaumette, Nargess Farhangdoost, 2024, bioRxiv.

Exome sequencing identifies FUS mutations as a cause of essential tremor.

G. Rouleau, J. Rivière, M. Panisset, 2012, American journal of human genetics.

TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson’s Disease with Opposite Effects

Y. Dauvilliers, G. Rouleau, R. Allen, 2018, Journal of Molecular Neuroscience.