Gianmarco Severa

Creteil, France

Last Updated: 09/26/2026

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Found 18 publications

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

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice.

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice.

Journal: Orphanet journal of rare diseases

Published: December 16, 2025

Polymorphic myopathological findings in a 77-year-old woman with oculo-bulbo-facial and distal weakness.

Polymorphic myopathological findings in a 77-year-old woman with oculo-bulbo-facial and distal weakness.

Journal: Brain pathology (Zurich, Switzerland)

Published: October 17, 2025

Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series.

Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series.

Journal: Neurology. Genetics

Published: October 10, 2025

Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient.

Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient.

Journal: Frontiers in genetics

Published: September 09, 2025

Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.

Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.

Journal: Journal of neuropathology and experimental neurology

Published: July 27, 2025

Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?

Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?

Journal: Journal of neuromuscular diseases

Published: July 08, 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

Sporadic late onset nemaline myopathy responsive to plasma exchanges discovered during a Graft-versus-host disease.

Sporadic late onset nemaline myopathy responsive to plasma exchanges discovered during a Graft-versus-host disease.

Journal: Neuromuscular disorders : NMD

Published: December 30, 2024

VMA21-X-linked myopathy in Peru: characterization of three families.

VMA21-X-linked myopathy in Peru: characterization of three families.

Journal: Neuromuscular disorders : NMD

Published: November 20, 2024

Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case.

Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: October 16, 2024

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.

Journal: European journal of neurology

Published: October 16, 2024

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Last Updated: 09/26/2026