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Neuromuscular Disorders : NMD|May 28, 2008
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathiesKatharina Strach, Torsten Sommer, Christian Grohé, et al.Neurogenetics|October 2, 2007
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain diseaseUte Hehr, Goekhan Uyanik, Claudia Gross, et al.Neuromuscular Disorders : NMD|May 16, 2018
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literatureRoberta Brusa, Francesca Magri, Dimitra Papadimitriou, et al.Histochemistry and Cell Biology|July 10, 2016
Differential expression and localization of Ankrd2 isoforms in human skeletal and cardiac musclesJovana Jasnic-Savovic, Sabine Krause, Slobodan Savic, et al.Frontiers in Molecular Biosciences|January 1, 2024
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophiesChristopher T Esapa, R A Jeffrey McIlhinney, Adrian J Waite, et al.Brain : a Journal of Neurology|December 23, 2011
A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patientsRobert Fledrich, Beate Schlotter-Weigel, Tuuli J Schnizer, et al.Journal of Cachexia, Sarcopenia and Muscle|October 1, 2025
Reduced Muscle Force in Dystrophic DMDΔ52 Pigs Is Incompletely Restored by Systemic Transcript Reframing (DMDΔ51-52)Michaela Blasi, Hristiyan Hristov, Jan B Stöckl, et al.Proceedings of the National Academy of Sciences of the United States of America|July 10, 2023
Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52Michael Stirm, Bachuki Shashikadze, Andreas Blutke, et al.Plos One|July 5, 2013
An integrated diagnosis strategy for congenital myopathiesJohann Böhm, Nasim Vasli, Edoardo Malfatti, et al.Der Nervenarzt|May 13, 2020
[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]Andreas Ziegler, Ekkehard Wilichowski, Ulrike Schara, et al.Pageof 16