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Journal of Neurology|February 14, 2026
A roadmap for a patient-centred approach to Pompe disease managementBenedikt Schoser, Cristina Domínguez-González, Pascal Laforet, et al.Neurology|March 5, 2026
Longitudinal Motor Function Changes in Adults With Late-Onset Pompe Disease: Key Determinants and Clinical ThresholdsThéo Maulet, Céline Bonnyaud, Fabien Dubois, et al.Annals of Neurology|September 25, 2004
Electromyography guides toward subgroups of mutations in muscle channelopathiesEmmanuel Fournier, Marianne Arzel, Damien Sternberg, et al.Molecular Genetics and Metabolism|September 18, 2012
Fat and carbohydrate metabolism during exercise in late-onset Pompe diseaseNicolai Preisler, Pascal Laforet, Karen Lindhardt Madsen, et al.Neuromuscular Disorders : NMD|August 2, 2011
Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutationsIrene Vieitez, Susana Teijeira, Jose M Fernandez, et al.Neuromuscular Disorders : NMD|February 6, 2018
Genotype and other determinants of respiratory function in myotonic dystrophy type 1Ghilas Boussaïd, Karim Wahbi, Pascal Laforet, et al.Neuromuscular Disorders : NMD|August 2, 2011
Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patternsRobert-Yves Carlier, Pascal Laforet, Claire Wary, et al.Medicine|January 26, 2019
Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case reportAbdallah Fayssoil, Tanya Stojkovic, Adam Ogna, et al.Journal of Inherited Metabolic Disease|November 13, 2014
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven casesClaire-Cécile Michon, Marcela Gargiulo, Valérie Hahn-Barma, 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.Pageof 7