Claire M. Lefeuvre

Garches, France

Last Updated: 09/26/2026

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Found 25 publications

Drug-induced autophagic myopathies: Exploring pathophysiology with immunolabelling and proteomics.

Drug-induced autophagic myopathies: Exploring pathophysiology with immunolabelling and proteomics.

Journal: Journal of neuropathology and experimental neurology

Published: January 29, 2026

Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.

Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.

Journal: Neurology. Genetics

Published: December 16, 2025

Real-Life Effectiveness After Switching to Avalglucosidase Alfa in Late-Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study.

Real-Life Effectiveness After Switching to Avalglucosidase Alfa in Late-Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study.

Journal: European journal of neurology

Published: November 23, 2025

Presymptomatic late-onset Pompe disease: Optimizing the timing of treatment.

Presymptomatic late-onset Pompe disease: Optimizing the timing of treatment.

Journal: Revue neurologique

Published: June 27, 2025

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study.

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study.

Journal: European journal of neurology

Published: May 20, 2025

Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure.

Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure.

Journal: Revue neurologique

Published: March 11, 2025

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Journal: European journal of neurology

Published: August 26, 2024

Autosomal dominant distal myopathy due to p.Ser85Cys mutation in the MATR3 gene: Novel case series and literature review.

Autosomal dominant distal myopathy due to p.Ser85Cys mutation in the MATR3 gene: Novel case series and literature review.

Journal: Revue neurologique

Published: July 19, 2024

Spinal muscular atrophy is also a disorder of spermatogenesis.

Spinal muscular atrophy is also a disorder of spermatogenesis.

Journal: Orphanet journal of rare diseases

Published: May 29, 2024

Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.

Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.

Journal: European journal of neurology

Published: February 13, 2024

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

Journal: European journal of human genetics : EJHG

Published: January 20, 2024

Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.

Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.

Journal: European journal of neurology

Published: January 10, 2024

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Last Updated: 09/26/2026