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Neuromuscular Disorders : NMD|January 24, 2007
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assayAstrid Milic, Nathalie Daniele, Hanns Lochmüller, et al.Journal of Neurology|April 21, 2010
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2Maggie C Walter, Birgit Czermin, Solvig Muller-Ziermann, et al.Journal of Neurology|July 31, 2024
Diagnostic accuracy and confounders of vagus nerve ultrasound in amyotrophic lateral sclerosis-a single-center case series and pooled individual patient data meta-analysisKatharina J Müller, Moritz L Schmidbauer, Sonja Schönecker, et al.Journal of Neurology|December 16, 2003
Variable reduction of caveolin-3 in patients with LGMD2B/MMMaggie C Walter, Christian Braun, Matthias Vorgerd, et al.Neurology. Genetics|December 20, 2024
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard DiagnosticsMartin Wendlandt, Hannes Erdmann, Simone Rost, et al.Neurological Research and Practice|December 15, 2022
ALSFRS-R-SE: an adapted, annotated, and self-explanatory version of the revised amyotrophic lateral sclerosis functional rating scaleAndré Maier, Matthias Boentert, Peter Reilich, et al.Neuromolecular Medicine|November 18, 2015
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory NeuropathySaranya Suriyanarayanan, Mari Auranen, Jussi Toppila, 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.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.Pageof 17