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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 17, 2022
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathiesPablo Brea Winckler, Bruna Cristine Chwal, Marco Antonnio Rocha Dos Santos, et al.
Acta Neuropathologica Communications|October 20, 2020
rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathyJacob A Ross, Hichem Tasfaout, Yotam Levy, et al.
Frontiers in Neurology|May 8, 2024
Whole-body muscle magnetic resonance imaging in inflammatory myopathy with mitochondrial pathologyWagner Cid Palmeira Cavalcante, André Macedo Serafim da Silva, Rodrigo de Holanda Mendonça, et al.
Neuromuscular Disorders : NMD|September 30, 2018
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in BrazilEduardo de Paula Estephan, Antonio Alberto Zambon, Paulo Eurípedes Marchiori, et al.
Orphanet Journal of Rare Diseases|July 29, 2022
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter studyClaude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, et al.
Genes|July 27, 2024
Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn ScreeningVanessa L Romanelli Tavares, Rodrigo Holanda Mendonça, Maytê S Toledo, et al.
European Radiology|May 27, 2018
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidityMickael Tordjman, Ivana Dabaj, Pascal Laforet, et al.
Experimental Gerontology|May 7, 2022
Skeletal muscle gene expression in older adults with type 2 diabetes mellitus undergoing calorie-restricted diet and recreational sports training - a randomized clinical trialDiana Bento da Silva Soares, Samuel Katsuyuki Shinjo, Aritânia Sousa Santos, et al.
Frontiers in Neurology|August 25, 2025
Surgical treatment of myasthenia gravis: 10 years of single center experienceJosé De Sá Moraes Neto, Jaqueline Schaparini Fonini, Francisco De Assis Cavalcanti Neto, et al.
Biochimica Et Biophysica Acta|October 16, 2002
Telethonin protein expression in neuromuscular disordersMariz Vainzof, Eloisa S Moreira, Oscar T Suzuki, et al.
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