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Orphanet Journal of Rare Diseases|January 24, 2024
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatmentsEmmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, et al.European Journal of Neurology|March 21, 2023
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosagesNicolas Pons, Gorka Fernández-Eulate, Antoine Pegat, et al.Journal of the American College of Cardiology|October 6, 2022
Cardiac Outcomes in Adults With Mitochondrial DiseasesKonstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, et al.Journal of Neurology, Neurosurgery, and Psychiatry|October 24, 2024
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortMarie Bahout, Gianmarco Severa, Emna Kamoun, et al.Orphanet Journal of Rare Diseases|October 27, 2021
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseasesLucie Isoline Pisella, Sara Fernandes, Guilhem Solé, et al.NPJ Digital Medicine|June 4, 2026
ChatGPT in the diagnosis and management of complex polyneuropathies: comparative analysis with neurologists using real-world casesAlberto De Lorenzo, Giulia Sofia Moretti, Alessandro Bertini, et al.Brain : a Journal of Neurology|May 2, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosisJulian Theuriet, Marion Masingue, Anthony Behin, et al.Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.European Heart Journal|March 6, 2026
Laminopathies: natural history and risk prediction of heart failurePhilippe Charron, Julie Proukhnitzky, Rabah Ben Yaou, et al.Pageof 4