List of works - Bernard Brais

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

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

scientific article published in July 2012

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

scientific article

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

scientific article

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

scientific article published on 28 November 2010

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

scientific article published on 3 May 2006

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

scientific article published on 7 June 2006

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

scientific article

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

scientific article

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

scientific article published on 08 January 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 23 May 2017

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

An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up

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

article

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

scientific article published on 27 August 2007

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

scientific article published on 10 December 2015

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies

scientific article published on 7 October 2013

CYP7B1 Mutations in French-Canadian Hereditary Spastic Paraplegia Subjects ⬇️

scientific article published on 01 January 2012

Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli

scientific article published on February 2009

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

scientific article published on 29 September 2020

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

scientific article

Cisatracurium pharmacodynamics in patients with oculopharyngeal muscular dystrophy

scientific article

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

scientific article

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

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

scientific article

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

scientific article

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

scientific article published in August 2009

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

scientific article published on 19 March 2010

Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy

scientific article published in September 2005

DOK7 mutations presenting as a proximal myopathy in French Canadians

scientific article published on 17 June 2010

Diversity of ARSACS mutations in French-Canadians

scientific article

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

scientific article published on 01 October 2020

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

scientific article

Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster

scientific article published on September 2011

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

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population

scientific article

High-Throughput Screening for Ligands of the HEPN Domain of Sacsin

scientific article

HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy

scientific article (publication date: August 2003)

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

scientific article published on 5 January 2017

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

scientific article

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

scientific article published on 22 November 2019

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

scientific article published on 27 August 2003

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

scientific article

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

scientific article

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

scientific article published on 17 January 2012

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

scientific article published in 2017

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa

scientific article published on 12 November 2010

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

scientific article published on 26 February 2016

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

scientific article published on 25 January 2013

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

scientific article published on 16 September 2014

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

scientific article

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

scientific article

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

scientific article

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

scientific article published on 7 November 2014

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis

scientific article published in May 2012

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

scientific article published on 11 August 2015

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

scientific article published in November 2000

Oculopharyngeal muscular dystrophy

scientific article

Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?

scientific article

Oculopharyngeal muscular dystrophy: What's new?

scientific article

Oculopharyngeal muscular dystrophy: a polyalanine myopathy

scientific article

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

scientific article published on April 2005

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

scientific article published on 23 February 2008

POLR3A variants in hereditary spastic paraplegia and ataxia

scientific article published on 8 December 2017

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

scientific article published on September 30, 2003

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

scientific article published on 7 July 2015

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

scientific article published on 27 October 2011

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

scientific article published on 5 November 2016

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

scientific article

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

scientific article published on 24 July 2018

SPG4 founder effect in French Canadians with hereditary spastic paraplegia.

scientific article published in May 2007

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

scientific article published on 2 December 2015

Sacs R272C missense homozygous mice develop an ataxia phenotype

scientific article published on 12 March 2019

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

scientific article

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

article

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy ⬇️

scientific article published on February 1, 1998

Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.

scientific article published on 7 April 2008

Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy

scientific article

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome

scientific article published on 24 October 2014

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

scientific article

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

scientific article published in Journal of Biological Chemistry

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

scientific article published on 24 June 2019

The Virtual Peg Insertion Test as an assessment of upper limb coordination in ARSACS patients: a pilot study

scientific article

The dynamism of PABPN1 nuclear inclusions during the cell cycle

scientific article published on 24 July 2006

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

scientific article published on 20 June 2019

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

scientific article

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

scientific article (publication date: April 2005)

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

scientific article

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

scientific article published on 18 August 2015

Validity and reliability of outcome measures assessing dexterity, coordination, and upper limb strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

scientific article published on 17 February 2018

Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination

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

Vanishing white matter disease in French-Canadian patients from Quebec

scientific article

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

scientific article

List of works by Bernard Brais

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

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

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

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

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

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

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

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

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

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

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

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

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

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

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

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

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

An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up

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

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

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

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies

CYP7B1 Mutations in French-Canadian Hereditary Spastic Paraplegia Subjects ⬇️

Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli

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

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

Cisatracurium pharmacodynamics in patients with oculopharyngeal muscular dystrophy

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

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

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

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

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

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

Cytoplasmic targeting of mutant poly(A)-binding protein nuclear 1 suppresses protein aggregation and toxicity in oculopharyngeal muscular dystrophy

DOK7 mutations presenting as a proximal myopathy in French Canadians

Diversity of ARSACS mutations in French-Canadians

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

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

Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster

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

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population

High-Throughput Screening for Ligands of the HEPN Domain of Sacsin

HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy

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

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

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

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

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

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

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

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

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa

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

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

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

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

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

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

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis

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

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

Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?

Oculopharyngeal muscular dystrophy: What's new?

Oculopharyngeal muscular dystrophy: a polyalanine myopathy

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

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

POLR3A variants in hereditary spastic paraplegia and ataxia

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

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

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

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

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

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

SPG4 founder effect in French Canadians with hereditary spastic paraplegia.

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

Sacs R272C missense homozygous mice develop an ataxia phenotype

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