Showing results (131-140 of 209) with videos related to
Sort By:
Pageof 21
Journal of Neuromuscular Diseases|August 9, 2024
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized MyopathyAndreas Roos, Martin Häusler, Laxmikanth Kollipara, et al.Photoacoustics|December 1, 2021
Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patientsAdrian P Regensburger, Alexandra L Wagner, Vera Danko, et al.Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging|January 10, 2023
Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophyVera Danko, Jörg Jüngert, Stephanie Schuessler, et al.Brain : a Journal of Neurology|September 10, 2010
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recyclingClaudia Stendel, Andreas Roos, Henning Kleine, et al.Acta Neuropathologica|January 19, 2024
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2Felix Kleefeld, Rita Horvath, Iago Pinal-Fernandez, et al.Journal of Neuromuscular Diseases|January 13, 2024
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic AtrophyAndrea Gangfuß, Philipp Rating, Tomas Ferreira, et al.Human Mutation|June 10, 2020
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNCHeike Kölbel, Andreas Roos, Peter F M van der Ven, et al.Journal of Neuromuscular Diseases|May 12, 2020
Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophyKristin Strandberg, Burcu Ayoglu, Andreas Roos, et al.Orphanet Journal of Rare Diseases|February 1, 2022
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspectsAnnabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, et al.Journal of Inherited Metabolic Disease|December 15, 2020
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxaGuido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, et al.Pageof 21