(Q36493503)

14 August 2017

1 reference

title

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

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Charlevoix-Saguenay spastic ataxia

14 August 2017

main subject

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spinocerebellar ataxia, autosomal recessive 1

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autosomal recessive ataxia, Beauce type

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genetic disease

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adult-onset autosomal dominant demyelinating leukodystrophy

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1 reference

1 reference

4

Guy A Rouleau

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Bernard Brais

series ordinal

3

object named as

Bernard Brais

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Jean-Pierre Bouchard

series ordinal

2

object named as

Jean-Pierre Bouchard

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Nicolas Dupré

series ordinal

1

object named as

Nicolas Dupré

1 reference

14 August 2017

language of work or name

English

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publication date

1 May 2006

1 reference

Canadian Journal of Neurological Sciences

14 August 2017

published in

1 reference

14 August 2017

volume

33

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14 August 2017

issue

2

1 reference

14 August 2017

page(s)

149-157

1 reference

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients

14 August 2017

cites work

1 reference

4 October 2017

http://europepmc.org/abstract/MED/16736723?fromSearch=singleResult&fromQuery=16736723

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

1 reference

4 October 2017

http://europepmc.org/abstract/MED/16736723?fromSearch=singleResult&fromQuery=16736723

A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American

1 reference

4 October 2017

http://europepmc.org/abstract/MED/16736723?fromSearch=singleResult&fromQuery=16736723

[Finding of retinal nerve fiber layer hypertrophy in ataxia of Charlevoix-Saguenay patients].

1 reference

4 October 2017

http://europepmc.org/abstract/MED/16736723?fromSearch=singleResult&fromQuery=16736723

Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

1 reference

4 October 2017

http://europepmc.org/abstract/MED/16736723?fromSearch=singleResult&fromQuery=16736723

Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?

1 reference

4 October 2017

http://europepmc.org/abstract/MED/16736723?fromSearch=singleResult&fromQuery=16736723

Early-onset neurodegenerative disease of the cerebellum and motor axons

1 reference

4 October 2017

http://europepmc.org/abstract/MED/16736723?fromSearch=singleResult&fromQuery=16736723

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population

1 reference

4 October 2017

http://europepmc.org/abstract/MED/16736723?fromSearch=singleResult&fromQuery=16736723

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Human genetics: lessons from Quebec populations

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Corpus Callosum Agenesis and Psychosis in Andermann Syndrome

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Origin of Friedreich's disease in Quebec

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy.

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Clinical and genetic abnormalities in patients with Friedreich's ataxia

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

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

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

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

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Leber's hereditary optic neuropathy. New genetic considerations

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

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

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Adrenergic dysfunction in hereditary adult-onset leukodystrophy

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Leber's hereditary optic neuropathy and complex I deficiency in muscle

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

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

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Friedreich ataxia-update on pathogenesis and possible therapies

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

A Cluster of Friedreich's Ataxia in Rimouski, Québec

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

A novel mutation in SACS gene in a family from southern Italy

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Molecular cell biology of Charcot-Marie-Tooth disease.

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

27 September 2019

1 reference

https://api.crossref.org/v1/works/10.1017/s031716710000490x

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families

27 September 2019

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

The Neuropathy of Charlevoix-Saguenay Ataxia: An Electrophysiological and Pathological Study

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

https://api.crossref.org/works/10.1017%2FS031716710000490X

1 reference

7 January 2021

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

Study of a family with progressive ataxia, tremor and severe distal amyotrophy

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

Recessive ataxia in Acadians and "Cajuns"

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000490X

7 January 2021

10.1017/S031716710000490X

Identifiers

DOI

0 references

1 reference