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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.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.Journal of Neuromuscular Diseases|September 12, 2025
State of the art: Pregnancy in spinal muscular atrophy in the treatment eraMaggie C Walter, Bernert Günther, Blaschek Astrid, et al.Annals of Clinical and Translational Neurology|April 29, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9Lindsay B Murphy, Olivia Schreiber-Katz, Karen Rafferty, et al.Neurology|October 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular DystrophyVolker Straub, Amanda R Clause, Sandra Donkervoort, et al.Human Molecular Genetics|June 21, 2013
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscleNikolai Klymiuk, Andreas Blutke, Alexander Graf, et al.Pageof 17