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Gianmarco Severa

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Neuromuscular Disorders : NMD|September 24, 2023
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14Gianmarco Severa, Alessandra Pennisi, Christine Barnerias, et al.
Journal of Neuropathology and Experimental Neurology|July 27, 2025
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patientsGianmarco Severa, Sultan Bastu, Giovanni Umberto Borin, et al.
Frontiers in Genetics|June 10, 2026
Case Report: a novel <i>PNPLA2</i> homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patientElena Faedo, Mary Marcela Araujo Chumacero, Sara Missaglia, et al.
Neurology. Genetics|June 8, 2026
Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case SeriesGianmarco Severa, Christine Barnerias, Cyril Gitiaux, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 24, 2024
<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortMarie Bahout, Gianmarco Severa, Emna Kamoun, et al.
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Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 15 results.
Neuromuscular Disorders : NMD|September 24, 2023
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14Gianmarco Severa, Alessandra Pennisi, Christine Barnerias, et al.
Journal of Neuropathology and Experimental Neurology|July 27, 2025
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patientsGianmarco Severa, Sultan Bastu, Giovanni Umberto Borin, et al.
Frontiers in Genetics|June 10, 2026
Case Report: a novel <i>PNPLA2</i> homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patientElena Faedo, Mary Marcela Araujo Chumacero, Sara Missaglia, et al.
Neurology. Genetics|June 8, 2026
Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case SeriesGianmarco Severa, Christine Barnerias, Cyril Gitiaux, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 24, 2024
<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortMarie Bahout, Gianmarco Severa, Emna Kamoun, et al.
Pageof 2