Publications by authors named "Mathieu Jean"

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Rare diseases load through the study of a regional population.
Élisa Michel, Claudia Moreau, Laurence Gagnon, Mylène Gagnon, Josianne Leblanc, Jean Mathieu, Jean-Denis Brisson

PLoS Genet· October 2025

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Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.
Pablo Iruzubieta, David Pellerin, Catherine Ashton, Felipe Villa, Mathilde Renaud, Jean Mathieu, Jean-Denis Brisson

J Neurol· September 2025

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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.
Carol-Ann Fortin, Mélanie Côté-Richer, Karine Truchon, Josianne Leblanc, Annabelle Pratte, Jean Mathieu

Genet Med Open· May 2025

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Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study.
Isabelle Lessard, Luc J Hébert, Raphaël St-Gelais, Isabelle Côté, Jean Mathieu

Cerebellum· August 2024

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Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.
Isabelle Lessard, Isabelle Côté, Raphaël St-Gelais, Luc J Hébert, Bernard Brais, Jean Mathieu

Cerebellum· April 2024

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Evolution of Sleep Complaints in Myotonic Dystrophy Type 1: A 9-Year Longitudinal Study.
Luc Laberge, Alexandre Maltais, Julie Auclair, Jean Mathieu, Cynthia Gagnon

Can J Neurol Sci· January 2024

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Characterization of muscle strength and mobility in oculopharyngeal muscular dystrophy.
Jean-Denis Brisson, Bernard Brais, Jean Mathieu, Isabelle Lessard, Valérie Gagné-Ouellet

Muscle Nerve· November 2023

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Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1.
Talita C Conte, Gilberto Duran-Bishop, Zakaria Orfi, Inès Mokhtari, Alyson Deprez, Jean Mathieu

Nat Commun· July 2023

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Does Atmospheric Corrosion Alter the Sound Quality of the Bronze Used for Manufacturing Bells?
Mourad Bentahar, Aline Petitmangin, Caroline Blanc, Anne Chabas, Silvio Montresor, Mathieu Jean

Materials (Basel)· June 2023

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Deep Intronic GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
David Pellerin, Matt C Danzi, Carlo Wilke, Mathilde Renaud, Sarah Fazal, Jean Mathieu

N Engl J Med· January 2023

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Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay.
Samar Muslemani, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Bernard Brais, Jean Mathieu

Can J Occup Ther· September 2022

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Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1.
Kateri Raymond, Mélanie Levasseur, Benjamin Gallais, Louis Richer, Luc Laberge, Jean Mathieu

Disabil Rehabil· June 2022

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Explanatory factors of dynamic balance impairment in myotonic dystrophy type 1.
Nicolas Bélair, Isabelle Côté, Cynthia Gagnon, Jean Mathieu, Elise Duchesne

Muscle Nerve· June 2022

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Responsiveness of Daytime Sleepiness and Fatigue Scales in Myotonic Dystrophy Type 1.
Luc Laberge, Benjamin Gallais, Julie Auclair, Yves Dauvilliers, Isabelle Côté, Jean Mathieu

Can J Neurol Sci· March 2022

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French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.
Tania Cruz Marino, Hélène Villeneuve, Josianne Leblanc, Caroline Duranceau, Philippe Caron, Jean Mathieu

Endocrine· January 2022

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Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Mbarka Bchetnia, Luigi Bouchard, Jean Mathieu, Philippe M Campeau, Charles Morin

J Med Genet· October 2021

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Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay.
Isabelle Lessard, Raphaël St-Gelais, Luc J Hébert, Isabelle Côté, Jean Mathieu

Orphanet J Rare Dis· October 2021

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Nutritional Risk in Oculopharyngeal Muscular Dystrophy: Beyond Dysphagia.
Catherine Forgues, Julie Fortin, Cynthia Gagnon, Jean-Denis Brisson, Jean Mathieu

Can J Diet Pract Res· June 2021

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Laser-induced injury of the skin: validation of a computer model to predict thresholds.
Mathieu Jean, Karl Schulmeister

Biomed Opt Express· May 2021

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Laser-induced corneal injury: validation of a computer model to predict thresholds.
Mathieu Jean, Karl Schulmeister, David J Lund, Bruce E Stuck

Biomed Opt Express· January 2021

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DNA methylation at the gene locus is associated with cognitive functions in myotonic dystrophy type 1.
Édith Breton, Cécilia Légaré, Gayle Overend, Simon-Pierre Guay, Darren Monckton, Jean Mathieu

Epigenomics· December 2020

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Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Dax Bourcier, Mathieu Bélanger, Isabelle Côté, Bernard Brais, Matthis Synofzik, Jean-Denis Brisson, Jean Mathieu

J Neurol Sci· October 2020

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A study of impairments in oculopharyngeal muscular dystrophy.
Jean-Denis Brisson, Cynthia Gagnon, Bernard Brais, Isabelle Côté, Jean Mathieu

Muscle Nerve· August 2020

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Validity of the Mini-BESTest in adults with myotonic dystrophy type 1.
Elise Duchesne, Luc J Hébert, Jean Mathieu, Isabelle Côté, Marie-Pier Roussel

Muscle Nerve· July 2020

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Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Joery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, Erik J Kamsteeg, Corrie E Erasmus, Jean Mathieu

Brain· February 2020

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