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Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
Semplicini C, Semplicini C, Letard P, et al.
Journal of inherited metabolic disease, 2018
Exercise testing-based algorithms to diagnose McArdle disease and MAD defects
Noury JB, Zagnoli F, Carre JL, et al.
Acta neurologica Scandinavica, 2018, 138, 4, p. 301-307
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
Dogan C, De Antonio M, Hamroun D, et al.
PLoS ONE, 2016, 11, 2
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
Rannou F, Uguen A, Scotet V, et al.
PLoS ONE, 2015, e0132972
Quelle démarche devant un ptôsis ? L'examen ophtalmologique et neurologique
Zagnoli F, Zagnoli C, Cochard-Marianowski C
Neurologies, 2014, 17, 172, p. 358-366
HTLV-1-associated inflammatory myopathies: low proviral load and moderate inflammation in 13 patients from West Indies and West Africa
Desdouits M, Cassar O, Maisonobe T, et al.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology, 2013, 57, 1, p 70
Assessment of a symptomatic Duchenne muscular dystrophy carrier 20 years after myoblast transplantation from her asymptomatic identical twin sister
Hogrel JY, Zagnoli F, Canal A, et al.
Neuromuscular disorders : NMD, 2013, 23, 7, p 575
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease. : Registre Français de la maladie de Pompe. Caractérisation d'une cohorte de 126 patients adultes
Laforêt P, Laloui K, Granger B, et al.
Revue neurologique, 2013, 169, 8-9, p. 595
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7
Ben Ammar A, Petit F, Alexandri N, et al.
Journal of neurology, 2010, 257, 5, p 754
Benefit of recombinant human acid alpha glucosidase treatment (myozyme*) in late onset Pompe disease : about four cases with treatment for six months
Leblanc A, Blanchard C, Zagnoli F
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 354
Clinical features of the congenital myasthenic syndrome associated with DOK7 mutations : Congrès international de myologie (International Congress of Myology 26-30 mai 2008 Marseille, France)
Collectif, Ben Ammar A, Alexandri N, et al.
2008, p. 320
Phenotypes of Pompe disease siblings (Poster)
Collectif, De Castro D, Laloui K, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 803
Polymyositis in a HTLV1-positive carribbean patient : a clinicopathological study
Leblanc A, Bondoin L, Marcorelles P, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 366
Maladie de Mc Ardle et sujet âgé
Zagnoli F, Goas JY, Leroy JP, et al.
Annales de médecine interne, 1991, 142, 7, p. 557-558
