Showing results (41-50 of 245) with videos related to
Sort By:
Pageof 25
Journal of Neuromuscular Diseases|September 15, 2025
A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intoleranceKatia Staedler, Juliette Nectoux, Corinne Metay, et al.Molecular Genetics and Metabolism|January 22, 2013
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic studyPascal Laforêt, Tanya Stojkovic, Guillaume Bassez, et al.Human Mutation|July 29, 2022
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathyArnaud Jacquier, Shams Ribault, Michel Mendes, et al.Journal of the Neurological Sciences|April 2, 2021
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiencyMichela Bisciglia, Roseline Froissart, Anne Laure Bedat-Millet, et al.Journal of Neurology|December 20, 2011
Clinical and electrophysiological characteristics of neuropathy associated with Tangier diseaseJulie Zyss, Anthony Béhin, Philippe Couvert, et al.Journal of Neurology|March 16, 2019
Congenital myopathies are mainly associated with a mild cardiac phenotypeHelle Petri, Karim Wahbi, Nanna Witting, et al.The Clinical Teacher|January 10, 2025
Improving Examination Skills in Neuromuscular Disorders Through an Educational VideoRocio Nur Villar-Quiles, Jebrane Bouaoud, Jean Philippe Foy, et al.Journal of the Neurological Sciences|November 20, 2013
Clinical spectrum and gender differences in a large cohort of Charcot-Marie-Tooth type 1A patientsCécile Colomban, Joëlle Micallef, Marie-Noëlle Lefebvre, et al.Journal of Clinical Pathology|April 13, 2017
The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise testJean-Yves Hogrel, Jorien B E Janssen, Isabelle Ledoux, et al.Journal of the Peripheral Nervous System : JPNS|April 3, 2012
Heterogeneous spectrum of neuropathies in Waldenström's macroglobulinemia: a diagnostic strategy to optimize their managementKarine Viala, Tanya Stojkovic, Anne-Violaine Doncker, et al.Pageof 25