Marie-france Rioux

Sherbrooke, QC, Canada

Last Updated: 09/26/2026

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Found 9 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

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

Journal: Scientific reports

Published: January 31, 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

Genetic, structural and clinical analysis of spastic paraplegia 4.

Genetic, structural and clinical analysis of spastic paraplegia 4.

Journal: Parkinsonism & related disorders

Published: January 25, 2022

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

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

Journal: The Journal of clinical endocrinology and metabolism

Published: May 29, 2020

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Journal: Molecular genetics & genomic medicine

Published: August 14, 2018

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

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

Journal: Orphanet journal of rare diseases

Published: October 18, 2015

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

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

Journal: European journal of human genetics : EJHG

Published: May 22, 2015

CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.

CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.

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

Published: March 06, 2012

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Last Updated: 09/26/2026