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Muscle & Nerve|April 12, 2019
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type IIIDavid Tobaly, Pascal Laforêt, Ariane Perry, et al.Journal of Inherited Metabolic Disease|March 10, 2015
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patientsPierre G Carlier, Noura Azzabou, Paulo Loureiro de Sousa, et al.Neurology|May 3, 2014
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathyAndoni Echaniz-Laguna, Odile Dubourg, Pierre Carlier, et al.Neuromuscular Disorders : NMD|November 24, 2016
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutationJean-Baptiste Noury, Johann Böhm, Georges Arielle Peche, et al.Neuromuscular Disorders : NMD|September 29, 2020
Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weaknessMarion Brisset, Corinne Metay, Robert-Yves Carlier, et al.Muscle & Nerve|February 11, 2017
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patientsConstantinos Papadopoulos, Pascal LaforÊt, Juliette Nectoux, et al.Biomedicines|February 24, 2024
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein InstabilityMarion Onnée, Audrey Bénézit, Sultan Bastu, et al.Respiratory Medicine|November 9, 2020
Determining extent of COVID-19 pneumonia on CT based on biological variablesMickael Tordjman, Ahmed Mekki, Rahul D Mali, et al.European Journal of Neurology|March 18, 2022
Macroglossia: A potentially severe complication of late-onset Pompe diseaseCharlotte Dupé, Claire Lefeuvre, Guilhem Solé, et al.Annals of Clinical and Translational Neurology|April 21, 2020
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiencyAurélien Perrin, Corinne Metay, Marcello Villanova, et al.Pageof 8