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Plos One|July 25, 2015
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective StudyFabrice Rannou, Arnaud Uguen, Virginie Scotet, et al.Plos One|August 11, 2015
Is there a link between exertional heat stroke and susceptibility to malignant hyperthermia?Emmanuel Sagui, Coline Montigon, Amandine Abriat, et al.Archives of Neurology|March 14, 2012
Exonic deletions of FXN and early-onset Friedreich ataxiaMathieu Anheim, Louise-Laure Mariani, Patrick Calvas, et al.Journal of Neurology|March 9, 2013
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia casesJustyna Jezierska, Giovanni Stevanin, Hiroyuki Watanabe, et al.Mitochondrion|April 3, 2014
Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantityMatthew J Fraidakis, Claude Jardel, Stéphane Allouche, et al.Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.Multiple Sclerosis and Related Disorders|October 22, 2023
Impact of automatic tools for detecting new lesions on therapeutic strategies offered to patients with MS by neurologistsBlandine Merkler, Arthur Masson, Jean Christophe Ferré, et al.Journal of Inherited Metabolic Disease|June 10, 2020
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe RegistryClaudio Semplicini, Marie De Antonio, Nadjib Taouagh, et al.Journal of Medical Genetics|April 24, 2019
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophyKarine Nguyen, Natacha Broucqsault, Charlene Chaix, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 22, 2015
Delayed-onset Friedreich's ataxia revisitedClaire Lecocq, Perrine Charles, Jean-Philippe Azulay, et al.Pageof 3