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Journal of Neuromuscular Diseases|May 31, 2021
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth NeuropathyElisabeth Schorling, Katja C Senn, Simone Thiele, et al.Journal of Neuromuscular Diseases|December 18, 2023
Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in GermanyErik Landfeldt, Berenike Leibrock, Justine Hussong, et al.Journal of Neuropathology and Experimental Neurology|May 8, 2010
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathyJohannes Levin, Stefanie Bulst, Christian Thirion, et al.Neuromuscular Disorders : NMD|May 9, 2015
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutationMaggie C Walter, Martina Rossius, Manuela Zitzelsberger, et al.European Journal of Human Genetics : EJHG|November 6, 2014
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1Mirjam Larsen, Simone Rost, Nady El Hajj, et al.Journal of Neuromuscular Diseases|October 10, 2019
Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational StudyMaggie C Walter, Stephan Wenninger, Simone Thiele, et al.Journal of Neurology|December 4, 2003
Analysis of HLA class I and II alleles in sporadic inclusion-body myositisJohannes B Lampe, Gudrun Gossrau, Andrea Kempe, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|May 18, 2018
The multifaceted clinical presentation of VCP-proteinopathy in a Greek familyGeorge K Papadimas, George P Paraskevas, Thomas Zambelis, et al.Neuromuscular Disorders : NMD|July 24, 2007
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patientsWolfgang Müller-Felber, Rita Horvath, Klaus Gempel, et al.Scientific Reports|September 17, 2016
Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophyThomas Fröhlich, Elisabeth Kemter, Florian Flenkenthaler, et al.Pageof 16