B. Brais

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Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

S. Blumen, J. Bouchard, B. Brais, 2009, Neurology.

Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway

B. Brais, G. Rouleau, C. Néri, 2013, Cell Death and Disease.

191st ENMC International Workshop: Recent advances in oculopharyngeal muscular dystrophy research: From bench to bedside 8-10 June 2012, Naarden, The Netherlands

B. Engelen, B. Brais, G. Butler-Browne, 2013, Neuromuscular Disorders.

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

J. Rommens, J. Bouchard, B. Brais, 1998, Nature Genetics.

Oculopharyngeal muscular dystrophy: A polyalanine myopathy

B. Brais, 2009, Current neurology and neuroscience reports.

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

B. Brais, G. Rouleau, A. Abu-Baker, 2007, Neurobiology of Disease.

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA.

B. Brais, M. Carmo-Fonseca, G. Rouleau, 2000, Human molecular genetics.

Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.

B. Brais, G. Rouleau, J. Laganière, 2001, Human molecular genetics.

Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.

B. Brais, G. Rouleau, A. Abu-Baker, 2003, Human molecular genetics.

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains.

B. Brais, Q. Trinh, G. Rouleau, 2003, Human molecular genetics.

Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay

B. Brais, C. Gagnon, J. Mathieu, 2022, Canadian journal of occupational therapy. Revue canadienne d'ergotherapie.

Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay

B. Brais, C. Gagnon, J. Mathieu, 2019, Journal of the Neurological Sciences.

Cytoplasmic Targeting of Mutant Poly(A)‐Binding Protein Nuclear 1 Suppresses Protein Aggregation and Toxicity in Oculopharyngeal Muscular Dystrophy

B. Brais, G. Rouleau, A. Abu-Baker, 2005, Traffic.

Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200

A. Vanderver, R. Schiffmann, B. Coulombe, 2019, The Journal of Biological Chemistry.

Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

B. Brais, F. Routhier, L. Hébert, 2020, Disability and rehabilitation. Assistive technology.

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

I. Thiffault, B. Brais, B. Banwell, 2006, Brain : a journal of neurology.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

F. Baas, B. Brais, W. Linssen, 2010, American journal of human genetics.

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

A. Vanderver, R. Schiffmann, B. Brais, 2011, American journal of human genetics.

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

J. Yates, A. Vanderver, D. Timmann, 2015, Nature Communications.

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

A. Vanderver, R. Schiffmann, B. Brais, 2011, American journal of human genetics.

An Introduction to Luria's Aphasiology

B. Brais, 1992, Neurology.

French-Canadian Cross-Cultural Adaptation of the SWAL-QOL and the SSQ and A Preliminary Psychometric Assessment for Their Use in an Oculopharyngeal Muscular Dystrophy (OPMD) Population

B. Brais, C. Gagnon, C. Côté, 2021 .

BAG3P215L/KO mice as a model of BAG3P209L myofibrillar myopathy.

Jason C. Young, A. Sadikot, R. Bryson-Richardson, 2020, The American journal of pathology.

Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study

M. Tarnopolsky, B. Brais, S. Chénier, 2020, Journal of child neurology.

Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay

B. Brais, L. Hébert, C. Gagnon, 2021, Orphanet Journal of Rare Diseases.

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

B. Brais, G. Blanco, E. Malfatti, 2017, Brain : a journal of neurology.

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

D. Labuda, J. Bouchard, B. Brais, 2005, Annals of neurology.

Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective

A. Durr, T. Klockgether, B. Brais, 2022, Movement disorders : official journal of the Movement Disorder Society.

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

I. Thiffault, J. Bouchard, B. Brais, 2006, Brain : a journal of neurology.

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

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

B. Coulombe, B. Brais, M. Gauthier, 2021, Faculty reviews.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

K., Stevens, A. Vanderver, 2020, The Journal of clinical endocrinology and metabolism.

Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies

A. Vanderver, B. Brais, J. Murnick, 2014, Journal of child neurology.

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.

R. Schiffmann, B. Brais, G. Bernard, 2012, Archives of neurology.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

A. Vanderver, R. Schiffmann, C. Catsman-Berrevoets, 2014, Neurology.

OBSERVATION 4 H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR 3 A Mutations

R. Schiffmann, B. Brais, G. Bernard, 2012 .

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

A. Vanderver, B. Brais, C. Stevens, 2013, Journal of Medical Genetics.

Response to Provincial Governments’ Decisions Regarding Monitoring for Adults with Spinal Muscular Atrophy

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

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

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

Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians

D. Gaudet, B. Brais, G. Rouleau, 2005, 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.

Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics

B. Brais, K. Gehring, B. Gentil, 2018, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method

A. Izenberg, B. Brais, H. Lochmüller, 2021, Journal of neuromuscular diseases.

The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders

B. Brais, L. Airas, G. Bernard, 2022, Frontiers in 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.

Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis

B. Brais, G. Rouleau, G. Rouleau, 1999, 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.

Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation

B. Brais, R. Gatti, S. Nahas, 2007, Neuromuscular Disorders.

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

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

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

B. Brais, C. Gagnon, Marjolaine Tremblay, 2022, Orphanet Journal of Rare Diseases.

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

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

Recent studies on oculopharyngeal muscular dystrophy in Québec

J. Bouchard, B. Brais, G. Rouleau, 1997, Neuromuscular Disorders.

Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31

A. Vanderver, I. Thiffault, J. Bouchard, 2010, neurogenetics.

Response to the Canadian Agency for Drugs and Technologies in Health and Institut national d’excellence en santé et en services sociaux decision regarding nusinersen for Spinal Muscular Atrophy

B. Brais, A. MacKenzie, C. Campbell, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Oculopharyngeal Muscular Dystrophy

J. Bouchard, B. Brais, G. Rouleau, 1999, Seminars in neurology.

The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics

B. Brais, P. McPherson, V. Francis, 2022, The Journal of biological chemistry.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

J. Ragoussis, R. Schüle, L. Schöls, 2022, The New England journal of medicine.

Oculopharyngeal muscular dystrophy (OPMD)

C. C. Tijssen, B. Brais, J. Martín, 1997 .

[Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene].

B. Brais, P. Richard, E. Hammouda, 2004, Neurologia.

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

H. Morizono, R. Finkel, Y. Hathout, 2017, Neuromuscular Disorders.

Spastic Paraparesis and Marked Improvement of Leukoencephalopathy in Aicardi–Goutières Syndrome

B. Brais, S. Lévesque, G. Bernard, 2014, Neuropediatrics.

Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS

A. Watt, B. Brais, R. McKinney, 2018, The Journal of physiology.

Capturing clinical progression in multisystemic genetic ataxias: lessons from a prospective study of 884 patients with autosomal recessive or early-onset ataxia

T. Klockgether, B. Brais, P. Klivényi, 2022, medRxiv.

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

S. Blumen, J. Bouchard, B. Brais, 1999, Annals of neurology.

Founder Mutation for a-sarcoglycan-LGMD2D in a Magdalen Islands Acadian Cluster

I. Thiffault, B. Brais, M. Tétreault, 2011, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Population history and its impact on medical genetics in Quebec

B. Brais, E. Lemyre, J. Michaud, 2005, Clinical genetics.

Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians

B. Brais, A. Beggs, D. Brunet, 2020, Annals of neurology.

Oculopharyngeal muscular dystrophy.

B. Brais, 2011, Handbook of clinical neurology.

PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.

B. Brais, A. Sasseville, G. Rouleau, 2008, Experimental cell research.

PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions

J. Bouchard, B. Brais, A. Sasseville, 2005, Neurobiology of Disease.

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.

RNA Polymerase III Subunit Mutations in Genetic Diseases

B. Brais, M. Teichmann, F. Sagliocco, 2021, Frontiers in Molecular Biosciences.

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

M. Hayden, X. Breakefield, B. Brais, 2004, American journal of human genetics.

Mother’s curse neutralizes natural selection against a human genetic disease over three centuries

A. Cohen, D. Labuda, B. Brais, 2017, Nature Ecology & Evolution.

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

M. Tarnopolsky, B. Brais, O. Suchowersky, 2020, Movement disorders clinical practice.

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

B. Brais, M. Guiot, R. La Piana, 2014, neurogenetics.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood

B. Brais, J. Majewski, J. Schwartzentruber, 2014, Muscle & nerve.

[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.

3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation

B. Brais, G. Pike, D. Tampieri, 2018, Journal of Clinical Neuroscience.

(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families

B. Brais, C. Camejo, L. Roche, 2005, Neuromuscular Disorders.

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

B. Coulombe, B. Brais, T. Kennedy, 2017, Molecular Brain.

The requirement for a disease‐specific patient‐reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy

B. Brais, C. Gagnon, C. Côté, 2019, Muscle & nerve.

Cisatracurium Pharmacodynamics in Patients with Oculopharyngeal Muscular Dystrophy

B. Brais, A. Duranceau, P. Chouinard, 2005, Anesthesia and analgesia.

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Jean-Pierre Bouchard, Hugo J. Bellen, Geneviève Bernard, 2012, PLoS biology.

Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report

B. Brais, G. Rouleau, S. Ducharme, 2019, Neurocase.

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

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

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

B. Brais, G. Rouleau, J. A. Parker, 2010, Neurobiology of Disease.

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

O. Elemento, E. Puffenberger, B. Brais, 2010, American journal of human genetics.

Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

J. Montplaisir, B. Brais, P. Cossette, 2003, Archives of neurology.

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.

J. Beckmann, B. Brais, G. Rouleau, 1998, American journal of human genetics.

Mother’s curse neutralizes natural selection against a human genetic disease over three centuries

A. Cohen, D. Labuda, B. Brais, 2017, Nature Ecology & Evolution.

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia

B. Brais, R. La Piana, Karine Choquet, 2015, neurogenetics.

Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13.

C. Larsson, B. Brais, G. Rouleau, 1998, Genomics.

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease

B. Brais, 2003, Cytogenetic and Genome Research.

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13

J. Weissenbach, M. Sanson, S. Blumen, 1995 .

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

B. Brais, Et Al., Et Al, 1998, Nature Genetics.

Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene

S. Blumen, J. Bouchard, B. Brais, 2000, Neurology.

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

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

Muscular Dystrophy, Oculopharyngeal

B. Brais, 2014 .

The dynamism of PABPN1 nuclear inclusions during the cell cycle

B. Brais, A. Sasseville, G. Rouleau, 2006, Neurobiology of Disease.

Oculopharyngeal muscular dystrophy: What's new?

B. Brais, E. Lafontaine, G. Rouleau, 2001 .

PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy

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

Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene

J. Bouchard, B. Brais, G. Rouleau, 1997, Neuromuscular Disorders.

A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy

J. Bouchard, B. Brais, G. Rouleau, 1997, Neuromuscular Disorders.

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13.

J. Weissenbach, M. Sanson, J. Bouchard, 1995, Human molecular genetics.

A study of impairments in oculopharyngeal muscular dystrophy

B. Brais, C. Gagnon, J. Mathieu, 2020, Muscle & nerve.

Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD)

B. Brais, H. Lochmüller, G. Melkus, 2022, Neuromuscular Disorders.

31. Oculopharyngeal Muscular Dystrophy

B. Brais, 2013 .

Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?

S. Blumen, B. Brais, V. Drory, 2013, The Israel Medical Association journal : IMAJ.

Cross-cultural adaptation of the SWAL-QOL and the Sydney Swallow Questionnaire (SSQ) into French-Canadian and preliminary assessment for their use in an oculopharyngeal muscular dystrophy (OPMD) population

B. Brais, C. Gagnon, C. Côté, 2021, Quality of Life Research.

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

E. Shoubridge, B. Brais, M. Duchen, 2012, Proceedings of the National Academy of Sciences.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

C. Fallet-Bianco, D. Labuda, H. Mandel, 2015, American journal of human genetics.

The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.

B. Brais, G. Rouleau, Z. Kibar, 1996, Human molecular genetics.

Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.

B. Brais, G. Rouleau, C. Tourette, 2008, Human molecular genetics.

Vanishing white matter disease in French-Canadian patients from Quebec.

B. Brais, G. Rouleau, E. Rossignol, 2014, Pediatric Neurology.

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.

A. Vanderver, B. Brais, M. S. van der Knaap, 2012, Archives of neurology.

Long-Standing Psychiatric Features as the Only Clinical Presentation of Vanishing White Matter Disease.

B. Brais, D. Tampieri, R. La Piana, 2019, The Journal of Neuropsychiatry and Clinical Neurosciences.

The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis

B. Coulombe, B. Brais, C. Kleinman, 2019, Molecular Brain.

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

Joseph A. Rochford, B. Coulombe, B. Brais, 2017, Molecular Brain.

POLR3A variants in hereditary spastic paraplegia and ataxia.

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

Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation

B. Brais, R. La Piana, M. Dicaire, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay

B. Brais, C. Gagnon, J. Mathieu, 2019, Neurology.

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

Marie-Pierre Dubé, Olaf Ansorge, Namrata Gupta, 2010, Nature Medicine.

From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay

B. Brais, C. Gagnon, J. Mathieu, 2018, Orphanet Journal of Rare Diseases.

An exploratory natural history of ataxia of Charlevoix-Saguenay

B. Brais, C. Gagnon, J. Mathieu, 2018, Neurology.

Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures

B. Brais, M. Synofzik, C. Gagnon, 2018, Journal of the Neurological Sciences.

Désiré Magloire Bourneville and French anticlericalism during the Third Republic.

B. Brais, 1993, Clio medica.

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

I. Thiffault, J. Bouchard, B. Brais, 2007 .

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

E. Shoubridge, B. Brais, K. Boycott, 2016, Brain : a journal of neurology.

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

J. Bouchard, B. Brais, G. Rouleau, 2015, European Journal of Human Genetics.

Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy

B. Brais, Hanns Lochmüller, K. Boycott, 2023, Neurology: Genetics.

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

E. Shoubridge, B. Brais, Woranontee Weraarpachai, 2017, neurogenetics.

Multisystem Proteinopathy Associated with a VCP G156S Mutation in a French Canadian Family

B. Brais, S. Ducharme, J. Karamchandani, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia

B. Brais, K. Boycott, M. Tétreault, 2016, neurogenetics.

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.

E. Shoubridge, B. Brais, P. McPherson, 2015, Human molecular genetics.

Clinical presentation and early evolution of spastic ataxia of Charlevoix‐Saguenay

J. Bouchard, B. Brais, J. Mathieu, 2013, Movement disorders : official journal of the Movement Disorder Society.

Diversity of ARSACS Mutations in French-Canadians

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

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)*

B. Brais, P. McPherson, G. Kozlov, 2011, The Journal of Biological Chemistry.

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene

B. Brais, G. Bernard, R. La Piana, 2015, Journal of child neurology.

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

D. Timmann, R. Schüle, L. Schöls, 2021, Frontiers in 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.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

A. Vanderver, I. Thiffault, B. Brais, 2023, Journal of Medical Genetics.

TACH Leukodystrophy: Locus Refinement to Chromosome 10q22.3-23.1

R. Schiffmann, I. Thiffault, B. Brais, 2012, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia

B. Brais, F. Weber, M. Synofzik, 2023, medRxiv.

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..

A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism.

B. Brais, A. Brunetti, M. Synofzik, 2023, Cerebellum.

Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations

Jason C. Young, B. Brais, P. McPherson, 2018, The Journal of Biological Chemistry.

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

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

Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to Thermal Stimuli

M. Bushnell, I. Thiffault, B. Brais, 2009, The Journal of Neuroscience.

Diagnostic anoctamin‐5 protein defect in patients with ANO5‐mutated muscular dystrophy

B. Brais, I. Richard, B. Eymard, 2018, Neuropathology and applied neurobiology.

DOK7 mutations presenting as a proximal myopathy in French Canadians

B. Brais, Hanns Lochmüller, M. Srour, 2010, Neuromuscular Disorders.

Sacs R272C missense homozygous mice develop an ataxia phenotype

Brenda Toscano Márquez, A. Watt, B. Brais, 2019, Molecular Brain.

Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

B. Brais, M. Synofzik, C. Gagnon, 2020, Journal of the Neurological Sciences.

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

B. Brais, P. Giunti, B. Gentil, 2017, Human molecular genetics.

The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis

B. Coulombe, B. Brais, C. Kleinman, 2019, Molecular brain.

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.

Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder

R. Gassert, O. Lambercy, B. Brais, 2022, Annals of clinical and translational neurology.

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.

D. Rujescu, D. Timmann, L. Schöls, 2023, Journal of neurology, neurosurgery, and psychiatry.

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.

L. Schöls, B. Brais, H. Lerche, 2023, Brain : a journal 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.

Chapter 9 Hereditary Ataxias and Spastic Parapareses in Northeastern Canada

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

The third left frontal convolution plays no role in language

B. Brais, 1992, Neurology.

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

B. Brais, M. Guiot, R. La Piana, 2014, neurogenetics.

A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing

B. Brais, M. Tétreault, E. Bareke, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model

B. Brais, P. Podini, A. Bachi, 2023, JCI insight.

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

B. Brais, K. Gehring, Michael A. Gonzalez, 2015, Brain : a journal of neurology.

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

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

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

I. Thiffault, T. Pastinen, B. Brais, 2023, Frontiers in Neurology.

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.

Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

B. Brais, M. Synofzik, H. Houlden, 2023, Movement disorders : official journal of the Movement Disorder Society.

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

M. Eberle, T. Pastinen, B. Brais, 2023, bioRxiv.

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

L. Schöls, B. Brais, M. Synofzik, 2023, Movement disorders : official journal of the Movement Disorder Society.

Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response

D. Rujescu, A. Hartmann, B. Brais, 2023, medRxiv.

The Development of a New Patient-Reported Outcome Measure in Recessive Ataxias: The Person-Reported Ataxia Impact Scale

B. Brais, C. Gagnon, D. Berbiche, 2023, Cerebellum.

White matter abnormalities in 15 subjects with SPG76.

G. Vasco, B. Brais, G. Stevanin, 2023, Journal of Neurology.

P2.50 Discovery of novel proteins, polyalanine and pre-B-cell leukaemia transcription factor 2 (PBX2), upregulated in inflammatory myopathies

B. Brais, G. Ravenscroft, N. Laing, 2010, Neuromuscular Disorders.

Wheelchair mobility, motor performance and participation of adult wheelchair users with ARSACS: a cross-sectional study

B. Brais, F. Routhier, L. Hébert, 2020, Disability and rehabilitation. Assistive technology.

Oculopharyngeal muscular dystrophy: a polyalanine myopathy.

B. Brais, 2009 .

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.

Title Page Polymorphism, Shared Functions and Convergent Evolution of Genes with Sequences Coding for Polyalanine Domains

B. Brais, Q. Trinh, G. Rouleau, 2022 .

Introducing the Dysphagiameter: a novel patient-reported outcome measure for evaluating dysphagia in oculopharyngeal muscular dystrophy - from conceptual framework to initial development

B. Brais, C. Gagnon, C. Batcho, 2023, Neuromuscular Disorders.

Intravenous Trehalose Improves Dysphagia and Muscle Function in Oculopharyngeal Muscular Dystrophy (OPMD): Preliminary Results of 24 Weeks Open Label Phase 2 Trial (S28.004)

B. Brais, Y. Caraco, Z. Argov, 2016 .

Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

B. Brais, M. Synofzik, C. Gagnon, 2018, Archives of physical medicine and rehabilitation.

Sacs R272C missense homozygous mice develop an ataxia phenotype

Brenda Toscano Márquez, A. Watt, B. Brais, 2019, Molecular Brain.

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.

O. Elemento, E. Puffenberger, B. Brais, 2010, American journal of human genetics.

A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.

E. Shoubridge, D. Labuda, B. Brais, 2005, American journal of human genetics.

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

S. Blumen, J. Bouchard, B. Brais, 1999, Annals of neurology.