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Neuromuscular Disorders : NMD|March 28, 2021
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophyClaudia Brogna, Giorgia Coratti, Rachele Rossi, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|April 16, 2015
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative studyLorenza Magliano, Maria Grazia D'Angelo, Giuseppe Vita, et al.Journal of Neurology|January 8, 2025
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinosesStefania Della Vecchia, Nicola Gammaldi, Ivana Ricca, et al.Neuropediatrics|March 21, 2012
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 casesGiorgio Pini, Stefania Bigoni, Ingegerd Witt Engerström, et al.Annals of Neurology|February 3, 2006
AHI1 gene mutations cause specific forms of Joubert syndrome-related disordersEnza Maria Valente, Francesco Brancati, Jennifer L Silhavy, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|August 8, 2017
Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costsLorenza Magliano, Marianna Scutifero, Melania Patalano, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|July 11, 2017
Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventionsLuisa Politano, Marianna Scutifero, Melania Patalano, et al.Muscle & Nerve|November 4, 2014
Burden, professional support, and social network in families of children and young adults with muscular dystrophiesLorenza Magliano, Melania Patalano, Alessandra Sagliocchi, et al.International Journal of Molecular Sciences|December 11, 2022
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation SequencingGemma Marinella, Guja Astrea, Bianca Buchignani, et al.Journal of Neuromuscular Diseases|September 18, 2025
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20Giorgia Coratti, Marika Pane, Sophia Paolucci, et al.Pageof 23