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Muscle & Nerve|January 17, 2020
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulationMarion Masingue, Marianne Arzel, Damien Sternberg, et al.
European Journal of Neurology|January 13, 2025
Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS)Katia Staedler, Yves Allenbach, Emmanuelle Salort-Campana, et al.
Journal of the Peripheral Nervous System : JPNS|May 20, 2024
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French familyJulian Theuriet, Sheila Marte, Arnaud Isapof, et al.
Journal of Inherited Metabolic Disease|October 26, 2019
Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseasesConstantinos Papadopoulos, Karim Wahbi, Anthony Behin, et al.
Neuromuscular Disorders : NMD|December 14, 2011
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal studyKarim Wahbi, Anthony Béhin, Philippe Charron, et al.
Journal of Inherited Metabolic Disease|November 26, 2019
A high prevalence of arterial hypertension in patients with mitochondrial diseasesCaroline Chong-Nguyen, Caroline Stalens, Yves Goursot, et al.
European Heart Journal|July 31, 2015
Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseasesKarim Wahbi, Wulfran Bougouin, Anthony Béhin, et al.
Acta Neuropathologica Communications|April 25, 2014
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic testAlexia Boizot, Yasmina Talmat-Amar, Deborah Morrogh, et al.
JAMA Neurology|June 25, 2014
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic featuresFrancesco Bombelli, Tanya Stojkovic, Odile Dubourg, et al.
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