Corinne Metay

Paris, France

Last Updated: 09/26/2026

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Found 48 publications

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.

Journal: Journal of neuromuscular diseases

Published: July 28, 2026

Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases.

Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases.

Journal: Journal of neuromuscular diseases

Published: July 23, 2026

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

Journal: Journal of neuromuscular diseases

Published: July 09, 2026

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Journal: Journal of neuromuscular diseases

Published: November 18, 2025

A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.

A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.

Journal: Journal of neuromuscular diseases

Published: September 15, 2025

Phenotype-specific muscle proteomic profiling in titinopathies.

Phenotype-specific muscle proteomic profiling in titinopathies.

Journal: Acta neuropathologica communications

Published: September 12, 2025

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Journal: Muscle & nerve

Published: September 08, 2025

Laminopathies: natural history and risk prediction of heart failure.

Laminopathies: natural history and risk prediction of heart failure.

Journal: European heart journal

Published: June 06, 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

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.

Journal: Neuropathology and applied neurobiology

Published: February 24, 2025

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

Journal: Brain : a journal of neurology

Published: January 27, 2025

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

Journal: International journal of molecular sciences

Published: October 31, 2024

Showing 1-12 of 48

Last Updated: 09/26/2026