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Journal of Clinical Immunology|November 11, 2010
CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRIGiovanni Frisullo, Roberto Frusciante, Viviana Nociti, et al.
JAMA Neurology|November 13, 2013
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skippingKaren Anthony, Virginia Arechavala-Gomeza, Valeria Ricotti, et al.
European Journal of Human Genetics : EJHG|January 8, 2025
Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type IAngela Puma, Giulia Tammam, Andra Ezaru, et al.
Plos One|June 21, 2018
Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophyClaudia Brogna, Lara Cristiano, Tommaso Tartaglione, et al.
Journal of Cachexia, Sarcopenia and Muscle|January 19, 2026
Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body InvolvementEleonora Torchia, Matteo Lucchini, José Verdu-Diaz, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|February 1, 2007
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progressionMario Pescatori, Aldobrando Broccolini, Carlo Minetti, et al.
The Journal of Clinical Investigation|March 7, 2017
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activityEmanuela Teveroni, Marsha Pellegrino, Sabrina Sacconi, et al.
Acta Neuropathologica Communications|January 9, 2023
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane traffickingAlexander H Swan, Roland F R Schindler, Marco Savarese, et al.
Neuromuscular Disorders : NMD|February 12, 2013
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortMichela Catteruccia, Fabiana Fattori, Valentina Codemo, et al.
Molecular Neurobiology|November 1, 2016
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal TitinopathyAnni Evilä, Johanna Palmio, Anna Vihola, et al.
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