N. Dupré

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.

Genetic markers of Restless Legs Syndrome in Parkinson disease.

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

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.

Assessing non-Mendelian Inheritance in Inherited Axonopathies

Dana M. Bis-Brewer, H. Hakonarson, R. Finkel, 2020, Genetics in Medicine.

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

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

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.

K-Cl cotransport in red blood cells from patients with KCC3 isoform mutants.

J. Bouchard, G. Rouleau, N. Dupré, 2006, Biochemistry and cell biology = Biochimie et biologie cellulaire.

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

J. Bouchard, G. Rouleau, N. Dupré, 2003, Annals of neurology.

Biofabrication of a three dimensional human‐based personalized neurofibroma model

N. Dupré, F. Gros-Louis, S. Saikali, 2021, Biotechnology journal.

Management of Patients with Cerebellar Ataxia During the COVID-19 Pandemic: Current Concerns and Future Implications

H. Mitoma, M. Molinari, J. Schmahmann, 2020, Cerebellum.

GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease

C. Blauwendraat, O. Monchi, S. Fahn, 2022, medRxiv.

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 .

Clinical and Electrophysiological Study in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1 A Associated with 17 pll . 2 Duplication

J. Bouchard, J. Puymirat, D. Brunet, 2015 .

A Founder Mutation in French-Canadian Families with X-linked Hereditary Neuropathy

J. Bouchard, G. Rouleau, G. Rouleau, 2001, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Clinical and Electrophysiological Study in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication

J. Bouchard, J. Puymirat, D. Brunet, 1999, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Investigation of C9orf72 repeat expansions in Parkinson's disease

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

Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease

S. Fahn, C. Waters, Y. Dauvilliers, 2020, medRxiv.

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

J. Bouchard, B. Brais, G. Rouleau, 2007 .

Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea‐acanthocytosis

K. Kotschet, D. Babovic‐Vuksanovic, K. Wakabayashi, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

Robert H. Brown, S. Purcell, J. Glass, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

The Canadian ALS Neuroimaging Consortium (CALSNIC) - a multicentre platform for standardized imaging and clinical studies in ALS

C. Beaulieu, S. Das, S. Graham, 2020, medRxiv.

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients

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

KCNA2 mutations are rare in hereditary spastic paraplegia

O. Suchowersky, G. Rouleau, Z. Gan-Or, 2017, Annals of Neurology.

A Case of Familial Creutzfeldt-Jakob Disease Presenting with Dry Cough

M. Coulthart, C. Bergeron, N. Dupré, 2006, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

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

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

CAPTURE ALS: the comprehensive analysis platform to understand, remedy and eliminate ALS

Alan C. Evans, Y. Iturria-Medina, E. Rogaeva, 2022, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

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

SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia

G. Rouleau, A. Dionne‐Laporte, J. Trempe, 2019, Journal of Human Genetics.

SPTAN 1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia

G. Rouleau, A. Dionne‐Laporte, J. Trempe, 2019 .

Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis

P. Andersen, J. Julien, J. Gilthorpe, 2018, Scientific Reports.

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.

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

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

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.

Environmental risk factors for amyotrophic lateral sclerosis: a case–control study in Canada and France

F. Salachas, N. Dupré, P. Pradat, 2022, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Therapies for Ataxias

A. Noreau, N. Dupré, L. Martineau, 2014, Current Treatment Options in Neurology.

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

G. Rouleau, J. Trempe, D. Spiegelman, 2020, Molecular genetics & genomic medicine.

Autosomal dominant primary lateral sclerosis

J. Bouchard, G. Rouleau, N. Dupré, 2007, Neurology.

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians

I. Thiffault, B. Brais, J. Puymirat, 2007, Neurology.

SPG4 Founder Effect in French Canadians with Hereditary Spastic Paraplegia

B. Brais, G. Rouleau, P. Cossette, 2007, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

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

[Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia].

J. Bouchard, G. Rouleau, N. Dupré, 2007, Medecine sciences : M/S.

Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices

A. Izenberg, S. Tremblay, C. O'Connell, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

J. Bouchard, B. Brais, J. Puymirat, 2009, Neuromuscular Disorders.

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.

Myotonia congenita—a cause of muscle weakness and stiffness

J. Bouchard, J. Puymirat, N. Dupré, 2006, Nature Clinical Practice Neurology.

Autosomal dominant sensory ataxia: a neuroaxonal dystrophy

G. Rouleau, N. Dupré, P. Valdmanis, 2008, Acta Neuropathologica.

A Novel Mutation in a Large French-Canadian Family with LGMD1B

J. Bouchard, G. Rouleau, J. Champagne, 2008, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Intra‐Arterial Milrinone for Reversible Cerebral Vasoconstriction Syndrome

N. Dupré, S. Verreault, J. Gariépy, 2009, Headache.

Canadian best practice recommendations for the management of amyotrophic lateral sclerosis

A. Izenberg, T. Benstead, C. O'Connell, 2020, Canadian Medical Association Journal.

Effects of Antiparkinson Medication on Cognition in Parkinson’s Disease: A Systematic Review

N. Dupré, M. Roy, M. Simard, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Physician-assisted death

A. Izenberg, C. O'Connell, L. Zinman, 2016, Neurology.

Acute Porphyria Presenting as Epilepsia Partialis Continua

D. Nguyen, N. Dupré, Thi Phuoc Yen Tran, 2013, Case Reports in Neurology.

Vaccination strategies for the control of circoviral diseases in pigs : PMWS and PCV2-associated PRDC

F. Joisel, N. Dupré, A. Brun, 2006 .

Scale for Ocular motor Disorders in Ataxia (SODA)

H. Mitoma, J. Schmahmann, A. Shaikh, 2022, Journal of the Neurological Sciences.

Persisting Chemosensory Impairments in 366 Healthcare Workers Following COVID-19: An 11-Month Follow-up.

R. Laforce, J. Frasnelli, N. Dupré, 2021, medRxiv.

Chemosensory Dysfunctions Induced by COVID-19 Can Persist up to 7 Months: A Study of Over 700 Healthcare Workers

J. Frasnelli, N. Dupré, F. Gros-Louis, 2021, Chemical senses.

Association of Essential Tremor With Novel Risk Loci

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

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

A. Desautels, G. Plazzi, R. Postuma, 2019, Annals of neurology.

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.

Linkage to the CCM2 Locus and Genetic Heterogeneity in Familial Cerebral Cavernous Malformation

J. Dichgans, D. Verlaan, A. Siegel, 2003, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

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

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

An Optimized Approach to Recover Secreted Proteins from Fibroblast Conditioned-Media for Secretomic Analysis

N. Dupré, F. Gros-Louis, R. Pouliot, 2016, Front. Cell. Neurosci..

A.04 The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force

H. Mitoma, J. Schmahmann, S. Tsuji, 2019, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature

N. Dupré, F. Brunet, V. Picher-Martel, 2020, Journal of child neurology.

From animal models to human disease: a genetic approach for personalized medicine in ALS

J. Julien, N. Dupré, P. Valdmanis, 2016, Acta neuropathologica communications.

Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB–mediated pathogenic pathways

S. Petri, J. Julien, V. Swarup, 2011, The Journal of experimental medicine.

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

V. Meininger, F. Salachas, J. Bouchard, 2007, Archives of neurology.

Autosomal Recessive Cerebellar Ataxias

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

Systematic review of autosomal recessive ataxias and proposal for a classification

G. Rouleau, C. Klein, N. Dupré, 2017, Cerebellum & Ataxias.

[Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada].

I. Thiffault, J. Bouchard, B. Brais, 2008, Revue neurologique.

Hereditary Ataxia, Spastic Paraparesis and Neuropathy in the French-Canadian Population

J. Bouchard, B. Brais, G. Rouleau, 2006, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

J. Bouchard, G. Rouleau, A. Noreau, 2011 .

Erratum: The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum (Nature Genetics (2002) 32(384-392))

J. Bouchard, A. George, G. Rouleau, 2002 .

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy.

J. Bouchard, D. Verlaan, G. Rouleau, 2008, Archives of neurology.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

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

A. Turgeon, D. Brunet, N. Dupré, 2013, Neurology.

Clinical and genetic study of hereditary spastic paraplegia in Canada

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

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy

R. Laforce, G. Rouleau, A. Turgeon, 2009, Clinical Neurology and Neurosurgery.

Expanding the differential diagnosis of inherited neuropathies with non‐uniform conduction: Andermann syndrome

G. Rouleau, J. Rivière, W. Marques, 2012, Journal of the peripheral nervous system : JPNS.

Genetic, structural and clinical analysis of spastic paraplegia 4

M. Tarnopolsky, G. Rouleau, O. Suchowersky, 2021, medRxiv.

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.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

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

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34

R. Laforce, G. Rouleau, N. Dupré, 2020, Neurology: Genetics.

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

Yves Dauvilliers, Edward A. Fon, Guy A. Rouleau, 2018, Neurobiology of Aging.

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.

Case Report: Acute Necrotizing Encephalopathy Following COVID-19 Vaccine

P. Beauchemin, N. Dupré, G. De Serres, 2022, Frontiers in Neurology.

Cognitive Impairment in ARCA-1, a Newly Discovered Pure Cerebellar Ataxia Syndrome

J. Bouchard, R. Laforce, G. Rouleau, 2010, The Cerebellum.

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.

Association of rare variants in ARSA with Parkinson’s disease

O. Monchi, S. Fahn, Y. Dauvilliers, 2023, medRxiv.

Variants in the Niemann–Pick type C gene NPC1 are not associated with Parkinson's disease

O. Monchi, S. Fahn, C. Waters, 2020, Neurobiology of Aging.

Analysis of common and rare VPS13C variants in late-onset Parkinson disease

A. Desautels, J. Montplaisir, S. Fahn, 2020, Neurology: Genetics.

Analysis of common and rare VPS13C variants in late onset Parkinson disease

A. Desautels, J. Montplaisir, S. Fahn, 2019 .

POLR3A variants in hereditary spastic paraplegia and ataxia.

Neil A. Miller, E. Farrow, I. Thiffault, 2018, Brain : a journal of neurology.

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.

Portrait of blood-derived extracellular vesicles in patients with Parkinson’s disease

R. Barker, F. Cicchetti, S. Mason, 2019, Neurobiology of Disease.

Medical and Paramedical Care of Patients With Cerebellar Ataxia During the COVID-19 Outbreak: Seven Practical Recommendations of the COVID 19 Cerebellum Task Force

H. Mitoma, M. Molinari, J. Schmahmann, 2020, Frontiers in Neurology.

The influence of vascular risk factors on cognitive function in early Parkinson's disease

N. Dupré, M. Simard, Maxime Doiron, 2018, International journal of geriatric psychiatry.

Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold‐induced myotonia in French Canadians

J. Puymirat, N. Dupré, M. Chahine, 2012, The Journal of physiology.

Oligogenicity, C9orf72 expansion, and variant severity in ALS

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

Genetic, structural and clinical analysis of spastic paraplegia 4.

M. Tarnopolsky, O. Suchowersky, G. Rouleau, 2022, Parkinsonism & related disorders.

GCH1 mutations in hereditary spastic paraplegia

G. Rouleau, J. Trempe, Z. Gan-Or, 2021, medRxiv.

SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia

G. Rouleau, A. Dionne‐Laporte, J. Trempe, 2019, Journal of Human Genetics.

Autosomal Recessive Ataxias

N. Dupré, Marie Beaudin, 2016 .

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.

Goal management training and psychoeducation / mindfulness for treatment of executive dysfunction in Parkinson’s disease: A feasibility pilot trial

N. Dupré, M. Simard, M. Langlois, 2022, PloS one.

Altered Theory of Mind in Parkinson’s Disease and Impact on Caregivers: A Pilot Study

N. Dupré, M. Simard, M. Langlois, 2021, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Goal management training ® home-based approach for mild cognitive impairment in Parkinson’s disease: a multiple baseline case report

N. Dupré, M. Simard, Maxime Doiron, 2018, Neurocase.

Diversity of ARSACS Mutations in French-Canadians

A. Montpetit, I. Thiffault, B. Brais, 2013, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Distinct Plasma Immune Profile in ALS Implicates sTNFR-II in pAMPK/Leptin Homeostasis

J. Julien, N. Dupré, J. Kriz, 2023, International journal of molecular sciences.

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease

O. Monchi, R. Postuma, S. Fahn, 2020, Neurobiology of Aging.

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease

O. Monchi, R. Postuma, S. Fahn, 2020, Neurobiology of Aging.

Distal truncation of KCC3 in non–French Canadian HMSN/ACC families

M. Tekin, G. Rouleau, J. Rivière, 2007, Neurology.

G.P.18.08 Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

B. Brais, G. Rouleau, N. Dupré, 2007, Neuromuscular Disorders.

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.

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

V. Chau, I. Thiffault, B. Brais, 2008, Neuromuscular Disorders.

Fine‐Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies

M. Nalls, A. Singleton, A. Desautels, 2020, Annals of neurology.

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.

Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies

M. Nalls, A. Singleton, A. Desautels, 2019, bioRxiv.

Increased Obstacle Clearance in People with ARCA-1 Results in Part from Voluntary Coordination Changes Between the Thigh and Shank Segments

B. McFadyen, M. MacLellan, N. Dupré, 2011, The Cerebellum.

Common and rare GCH1 variants are associated with Parkinson's disease

O. Monchi, S. Fahn, Y. Dauvilliers, 2019, Neurobiology of Aging.

Exposure to Pesticides and Welding Hastens the Age-at-Onset of Parkinson’s Disease

Z. Gan-Or, N. Dupré, Pierre-Luc Gamache, 2019, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Distinct patterns of progressive gray and white matter degeneration in amyotrophic lateral sclerosis

C. Beaulieu, A. Wilman, D. Emery, 2021, Human brain mapping.

A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8 p 12 – 8 q 12

G. Rouleau, G. Rouleau, N. Dupré, 2004 .

A systematic review of the potential consequences of abnormal serum levels of vitamin B6 in people living with Parkinson's disease

A. Lang, N. Dupré, E. Logigian, 2023, Journal of the Neurological Sciences.

Management of Patients with Cerebellar Ataxia During the COVID-19 Pandemic: Current Concerns and Future Implications

H. Mitoma, M. Molinari, J. Schmahmann, 2020, The Cerebellum.

In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

N. Dupré, F. Gros-Louis, M. Blais, 2023, Stem cells international.

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.

The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

A. McCormick, A. Izenberg, B. Brais, 2020, Journal of neuromuscular diseases.

A Real-World Glimpse into the Epidemiology of ALS in Canada

N. Dupré, L. Korngut, 2013, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

A 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+ Signaling*

R. Wojcikiewicz, G. Rouleau, Danielle A. Sliter, 2015, The Journal of Biological Chemistry.

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

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

A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada

G. Rouleau, D. Brunet, N. Dupré, 2006, Neurology.

Chapter 9 Hereditary Ataxias and Spastic Parapareses in Northeastern Canada

J. Bouchard, B. Brais, G. Rouleau, 2007 .

Mattis Dementia Rating Scale 2

N. Dupré, M. Simard, S. Thivierge, 2011, American journal of Alzheimer's disease and other dementias.

Clinical Validity of the Mattis Dementia Rating Scale-2 in Parkinson Disease With MCI and Dementia

N. Dupré, M. Simard, M. Langlois, 2012, Journal of geriatric psychiatry and neurology.

The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies

R. Postuma, J. Trempe, D. Spiegelman, 2018, Clinical genetics.

Gambling Habits of People With Parkinson’s Disease: An Exploratory Study

I. Giroux, N. Dupré, M. Simard, 2017 .

Management of Patients with Cerebellar Ataxia During the COVID-19 Pandemic: Current Concerns and Future Implications

H. Mitoma, M. Molinari, J. Schmahmann, 2020, Cerebellum.

Familial Alzheimer Disease in Canada

R. Laforce, N. Dupré, 2010, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

LRRK2 is not a Significant Cause of Parkinson's Disease in French-Canadians

R. Myers, G. Rouleau, J. Rivière, 2007, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

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.

Transmission of ALS pathogenesis by the cerebrospinal fluid

J. Julien, N. Dupré, J. Kriz, 2020, Acta Neuropathologica Communications.

Association of Rare Variants in ARSA with Parkinson's Disease.

O. Monchi, S. Fahn, Y. Dauvilliers, 2023, Movement disorders : official journal of the Movement Disorder Society.

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.

Orthonasal, but not Retronasal Olfaction is Specifically Impaired in Parkinson's Disease.

J. Frasnelli, N. Dupré, C. Tremblay, 2020, Chemical senses.

[Severe neuropathy with agenesis of the corpus callosum].

J. Bouchard, G. Rouleau, H. Howard, 2003, Medecine sciences : M/S.

Genetic Susceptibility of Alzheimer's Disease in East Asia

N. Dupré, 2011, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

J. Bouchard, A. George, G. Rouleau, 2002, Nature Genetics.

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.

Smoking history is associated to cognitive impairment in Parkinson's disease

N. Dupré, M. Simard, Maxime Doiron, 2017, Aging & mental health.

An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean

B. Brais, O. Barsottini, W. Marques, 2022, Cerebellum.

A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12–8q12.1

G. Rouleau, N. Dupré, P. Valdmanis, 2004, Journal of Medical Genetics.

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

H. Mitoma, J. Schmahmann, G. Rouleau, 2019, The Cerebellum.

Autosomal Recessive Cerebellar Ataxias

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

Paresthesia and sensory disturbances associated with 2009 pandemic vaccine receipt: Clinical features and risk factors.

D. Skowronski, Fernand Bédard, N. Dupré, 2015, Vaccine.

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.

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.

A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1.

G. Rouleau, N. Dupré, P. Valdmanis, 2008, Archives of neurology.

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

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

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

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

Speech timing and monosyllabic diadochokinesis measures in the assessment of amyotrophic lateral sclerosis in Canadian French.

Y. Yunusova, S. Kalra, N. Dupré, 2023, International journal of speech-language pathology.

A National Spinal Muscular Atrophy Registry for Real-World Evidence

A. McCormick, A. Izenberg, B. Brais, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea‐acanthocytosis

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.