Jean F. Mathieu

Centre De Recherche Du Centre Intégré Universitaire Du Saguenay Lac St Jean
Saguenay, QC, Canada

Last Updated: 09/26/2026

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Found 68 publications

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Journal: Journal of neurology

Published: August 05, 2025

Rare diseases load through the study of a regional population.

Rare diseases load through the study of a regional population.

Journal: PLoS genetics

Published: March 06, 2025

Artistic gymnastics-specific extension of the IOC 2020 consensus statement: methods for recording and reporting of epidemiological data on injury and illness in sport.

Artistic gymnastics-specific extension of the IOC 2020 consensus statement: methods for recording and reporting of epidemiological data on injury and illness in sport.

Journal: BMJ open sport & exercise medicine

Published: August 23, 2024

Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada.

Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada.

Journal: Genetics in medicine open

Published: July 10, 2024

Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study.

Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study.

Journal: Cerebellum (London, England)

Published: December 02, 2023

Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.

Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.

Journal: Cerebellum (London, England)

Published: April 18, 2023

Evolution of Sleep Complaints in Myotonic Dystrophy Type 1: A 9-Year Longitudinal Study.

Evolution of Sleep Complaints in Myotonic Dystrophy Type 1: A 9-Year Longitudinal Study.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: March 17, 2023

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

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

Journal: The New England journal of medicine

Published: December 14, 2022

Characterization of muscle strength and mobility in oculopharyngeal muscular dystrophy.

Characterization of muscle strength and mobility in oculopharyngeal muscular dystrophy.

Journal: Muscle & nerve

Published: July 27, 2022

Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1.

Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1.

Journal: Nature communications

Published: June 24, 2022

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

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

Journal: Canadian journal of occupational therapy. Revue canadienne d'ergotherapie

Published: April 26, 2022

Explanatory factors of dynamic balance impairment in myotonic dystrophy type 1.

Explanatory factors of dynamic balance impairment in myotonic dystrophy type 1.

Journal: Muscle & nerve

Published: June 11, 2021

Showing 1-12 of 68

Last Updated: 09/26/2026