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Neurological Research and Practice|April 27, 2025
Motor phenotypes of amyotrophic lateral sclerosis - a three-determinant anatomical classification based on the region of onset, propagation of motor symptoms, and the degree of upper and lower motor neuron dysfunctionThomas Meyer, Matthias Boentert, Julian Großkreutz, et al.Plos One|July 5, 2013
An integrated diagnosis strategy for congenital myopathiesJohann Böhm, Nasim Vasli, Edoardo Malfatti, et al.Neurology|May 13, 2016
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weaknessZoltan Lukacs, Paulina Nieves Cobos, Stephan Wenninger, et al.Journal of Neurology|May 6, 2011
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 genePeter Reilich, Rita Horvath, Sabine Krause, et al.Neuromuscular Disorders : NMD|September 18, 2012
Muscle MRI findings in limb girdle muscular dystrophy type 2LAnna Sarkozy, Marcus Deschauer, Robert-Yves Carlier, et al.Brain : a Journal of Neurology|September 13, 2022
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophyHannes Erdmann, Florentine Scharf, Stefanie Gehling, et al.Brain Communications|April 3, 2023
Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutationsMaximilian Wiesenfarth, Kornelia Günther, Kathrin Müller, et al.Journal of Neuromuscular Diseases|July 10, 2023
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient CohortStephanie Kleinle, Veronika Scholz, Anna Benet-Pagés, et al.Journal of Neurology|August 14, 2024
Clinical characterization of common pathogenic variants of SOD1-ALS in GermanyMaximilian Wiesenfarth, Yalda Forouhideh-Wiesenfarth, Zeynep Elmas, et al.Brain Communications|May 24, 2023
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosisWolfgang P Ruf, Matej Boros, Axel Freischmidt, et al.Pageof 5