List of works - Jean Mathieu

A 9-year follow-up study of quantitative muscle strength changes in myotonic dystrophy type 1

A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: A similar decline for phenotypes but not for gender

scientific article published on 02 May 2017

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

scientific article

A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1.

scientific article published on 11 February 2009

A study of inbreeding and kinship in intracranial aneurysms in the Saguenay Lac-Saint-Jean region (Quebec, Canada).

scientific article published in March 1996

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

scientific article

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

scientific article

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

Anesthetic and surgical complications in 219 cases of myotonic dystrophy

scientific article published in December 1997

Anticipation in myotonic dystrophy type 1 parents with small CTG expansions.

scientific article

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

article

Assessing upper extremity capacity as a potential indicator of needs related to household activities for rehabilitation services in people with myotonic dystrophy type 1.

scientific article published on 9 April 2015

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: upper extremity aptitudes, functional independence and social participation

scientific article

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

article published in 1998

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

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

scientific article

Clinical, psychosocial, and central correlates of quality of life in myotonic dystrophy type 1 patients

scientific article published on 19 October 2013

Cognitive Deficits Associated with Sleep Apnea in Myotonic Dystrophy Type 1.

scientific article published in January 2014

Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study

scientific article published on 14 October 2016

Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)

scientific article

Comportements socio-démographiques des individus atteints de dystrophie myotonique ⬇️

journal article from 'Cahiers québécois de démographie' published in 1986

Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study

scientific article published on 9 July 2017

DOK7 mutations presenting as a proximal myopathy in French Canadians

scientific article published on 17 June 2010

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

scientific article published on 25 January 2016

Diversity of ARSACS mutations in French-Canadians

scientific article

Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial

scientific article published on May 2012

Epidemiological surveillance of amyotrophic lateral sclerosis in Saguenay region

scientific article published on September 2013

Familial factors in Alzheimer's disease (IMAGE project). A case-control study in the Saguenay-Lac-St-Jean region (Quebec, Canada).

scientific article

Fatigue and daytime sleepiness in patients with myotonic dystrophy type 1: to lump or split?

scientific article published on 29 April 2009

Fatigue and daytime sleepiness rating scales in myotonic dystrophy: a study of reliability

scientific article

Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.

scientific article

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

scientific article

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

Genealogical study of oculopharyngeal dystrophy at Saguenay-Lac-St-Jean, Quebec, Canada

scientific article published on January 1, 1992

Genes, maternal smoking, and the offspring brain and body during adolescence: design of the Saguenay Youth Study

scientific article published in June 2007

Health supervision and anticipatory guidance in adult myotonic dystrophy type 1.

scientific article published on 29 September 2010

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

scientific article

Infant mortality in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective

scientific article

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

scientific article

Lower limb muscle strength impairment in late-onset and adult myotonic dystrophy type 1 phenotypes.

scientific article published on 26 October 2016

Maternal smoking, genes and adolescent brain and body: The Saguenay Youth Study

book chapter

Measurement properties of a new wireless electrogoniometer for quantifying spasticity during the pendulum test in ARSACS patients

scientific article

Measuring participation in children with disabilities using the Assessment of Life Habits.

scientific article published in September 2007

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

Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation

scientific article

Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review

scientific article published on 27 September 2016

Predictors of disrupted social participation in myotonic dystrophy type 1.

scientific article published in July 2008

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1

scientific article published on 02 November 2020

Presence of palmar xanthomas in myotonic dystrophy identifies different patterns of linkage disequilibrium between the apolipoprotein E and myotonic dystrophy protein kinase loci

scientific article published on 01 March 2005

Prevalence of lifestyle risk factors in myotonic dystrophy type 1.

scientific article

Psychological characteristics of patients with myotonic dystrophy type 1.

scientific article published on 11 December 2014

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

scientific article

Role for the central motor system in fibromyalgia: pain resolution after pontine infarction

scientific article published on 29 September 2009

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

scientific article published on 2 December 2015

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

scientific article

Sleep complaints in patients with myotonic dystrophy

scientific article published in March 2004

Stanford Chronic Disease Self-Management Program in myotonic dystrophy: New opportunities for occupational therapists: Stanford Chronic Disease Self-Management Program dans la dystrophie myotonique : De nouvelles opportunités pour les ergothérapeute

scientific article

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

scientific article (publication date: November 2002)

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

scientific article

The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy.

scientific article

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q

scientific article published in January 1996

The potential of disease management for neuromuscular hereditary disorders

scientific article published on May 2009

Towards an integrative approach to the management of myotonic dystrophy type 1

scientific article

Usefulness of clinical and electrocardiographic data for predicting adverse cardiac events in patients with myotonic dystrophy

scientific article

Utility of short-latency evoked potentials in the classification of progressive, early onset cerebellar ataxias

scientific article published on January 1990

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

List of works by Jean Mathieu

A 9-year follow-up study of quantitative muscle strength changes in myotonic dystrophy type 1

A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: A similar decline for phenotypes but not for gender

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

A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1.

A study of inbreeding and kinship in intracranial aneurysms in the Saguenay Lac-Saint-Jean region (Quebec, Canada).

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

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

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

Anesthetic and surgical complications in 219 cases of myotonic dystrophy

Anticipation in myotonic dystrophy type 1 parents with small CTG expansions.

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

Assessing upper extremity capacity as a potential indicator of needs related to household activities for rehabilitation services in people with myotonic dystrophy type 1.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: upper extremity aptitudes, functional independence and social participation

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

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

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

Clinical, psychosocial, and central correlates of quality of life in myotonic dystrophy type 1 patients

Cognitive Deficits Associated with Sleep Apnea in Myotonic Dystrophy Type 1.

Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study

Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)

Comportements socio-démographiques des individus atteints de dystrophie myotonique ⬇️

Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study

DOK7 mutations presenting as a proximal myopathy in French Canadians

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

Diversity of ARSACS mutations in French-Canadians

Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial

Epidemiological surveillance of amyotrophic lateral sclerosis in Saguenay region

Familial factors in Alzheimer's disease (IMAGE project). A case-control study in the Saguenay-Lac-St-Jean region (Quebec, Canada).

Fatigue and daytime sleepiness in patients with myotonic dystrophy type 1: to lump or split?

Fatigue and daytime sleepiness rating scales in myotonic dystrophy: a study of reliability

Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.

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

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

Genealogical study of oculopharyngeal dystrophy at Saguenay-Lac-St-Jean, Quebec, Canada

Genes, maternal smoking, and the offspring brain and body during adolescence: design of the Saguenay Youth Study

Health supervision and anticipatory guidance in adult myotonic dystrophy type 1.

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

Infant mortality in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective

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

Lower limb muscle strength impairment in late-onset and adult myotonic dystrophy type 1 phenotypes.

Maternal smoking, genes and adolescent brain and body: The Saguenay Youth Study

Measurement properties of a new wireless electrogoniometer for quantifying spasticity during the pendulum test in ARSACS patients

Measuring participation in children with disabilities using the Assessment of Life Habits.

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

Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation

Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review

Predictors of disrupted social participation in myotonic dystrophy type 1.

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1

Presence of palmar xanthomas in myotonic dystrophy identifies different patterns of linkage disequilibrium between the apolipoprotein E and myotonic dystrophy protein kinase loci

Prevalence of lifestyle risk factors in myotonic dystrophy type 1.

Psychological characteristics of patients with myotonic dystrophy type 1.

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

Role for the central motor system in fibromyalgia: pain resolution after pontine infarction

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

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Sleep complaints in patients with myotonic dystrophy

Stanford Chronic Disease Self-Management Program in myotonic dystrophy: New opportunities for occupational therapists: Stanford Chronic Disease Self-Management Program dans la dystrophie myotonique : De nouvelles opportunités pour les ergothérapeute

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

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

The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy.

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q

The potential of disease management for neuromuscular hereditary disorders

Towards an integrative approach to the management of myotonic dystrophy type 1

Usefulness of clinical and electrocardiographic data for predicting adverse cardiac events in patients with myotonic dystrophy

Utility of short-latency evoked potentials in the classification of progressive, early onset cerebellar ataxias

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

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