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Neuromuscular Disorders : NMD|August 17, 2010
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutationGiorgio Tasca, Massimiliano Mirabella, Aldobrando Broccolini, et al.The Journal of Clinical Endocrinology and Metabolism|October 20, 2019
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan StorageKittichate Visuttijai, Carola Hedberg-Oldfors, Christer Thomsen, et al.Scientific Reports|May 4, 2022
Dynamic magnetic resonance imaging of muscle contraction in facioscapulohumeral muscular dystrophyXeni Deligianni, Francesco Santini, Matteo Paoletti, et al.Neuromuscular Disorders : NMD|January 17, 2025
Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophyMarianela Schiava, John P Bourke, Jordi Díaz-Manera, et al.Journal of Neurology|February 27, 2014
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutationsCarola Hedberg, Marcello Niceta, Fabiana Fattori, et al.Diagnostics (Basel, Switzerland)|March 11, 2023
Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case SeriesMartina Maceroni, Mauro Monforte, Rossella Cariola, et al.Journal of Neurology|December 25, 2012
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansionsMassimo Santoro, Marcella Masciullo, Roberta Pietrobono, et al.Clinical Neuropathology|July 20, 2021
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathiesChiara Panicucci, Serena Baratto, Lizzia Raffaghello, et al.Stem Cells (Dayton, Ohio)|September 1, 2007
Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsiesRoberta Morosetti, Massimiliano Mirabella, Carla Gliubizzi, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|July 2, 2021
Thr124Met myelin protein zero mutation mimicking motor neuron diseaseGiulia Bisogni, Angela Romano, Amelia Conte, et al.Pageof 16