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Page 1
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P; French Pompe Study Group. Semplicini C, et al. Among authors: sacconi s. J Inherit Metab Dis. 2018 Nov;41(6):937-946. doi: 10.1007/s10545-018-0243-7. Epub 2018 Aug 28. J Inherit Metab Dis. 2018. PMID: 30155607
Dehydroepiandrosterone for myotonic dystrophy type 1.
Pénisson-Besnier I, Devillers M, Porcher R, Orlikowski D, Doppler V, Desnuelle C, Ferrer X, Bes MC, Bouhour F, Tranchant C, Lagrange E, Vershueren A, Uzenot D, Cintas P, Solé G, Hogrel JY, Laforêt P, Vial C, Vila AL, Sacconi S, Pouget J, Eymard B, Chevret S, Annane D. Pénisson-Besnier I, et al. Among authors: sacconi s. Neurology. 2008 Aug 5;71(6):407-12. doi: 10.1212/01.wnl.0000324257.35759.40. Neurology. 2008. PMID: 18678823 Clinical Trial.
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.
Humbertclaude V, Hamroun D, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, Cuisset JM, de Lattre C, Desnuelle C, Echenne B, Halbert C, Jonquet O, Labarre-Vila A, N'Guyen-Morel MA, Pages M, Pepin JL, Petitjean T, Pouget J, Ollagnon-Roman E, Richelme C, Rivier F, Sacconi S, Tiffreau V, Vuillerot C, Picot MC, Claustres M, Béroud C, Tuffery-Giraud S. Humbertclaude V, et al. Among authors: sacconi s. Eur J Paediatr Neurol. 2012 Mar;16(2):149-60. doi: 10.1016/j.ejpn.2011.07.001. Epub 2011 Sep 15. Eur J Paediatr Neurol. 2012. PMID: 21920787
[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].
Humbertclaude V, Hamroun D, Picot MC, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, Cuisset JM, de Lattre C, Desnuelle C, Echenne B, Halbert C, Jonquet O, Labarre-Vila A, N'guyen-Morel MA, Pages M, Pepin JL, Petitjean T, Pouget J, Ollagnon-Roman E, Richelme C, Rivier F, Sacconi S, Tiffreau V, Vuillerot C, Béroud C, Tuffery-Giraud S, Claustres M. Humbertclaude V, et al. Among authors: sacconi s. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):583-94. doi: 10.1016/j.neurol.2013.04.004. Epub 2013 Aug 14. Rev Neurol (Paris). 2013. PMID: 23954141 French.
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J; French Pompe Registry Study Group. Laforêt P, et al. Among authors: sacconi s. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602. doi: 10.1016/j.neurol.2013.07.002. Epub 2013 Sep 3. Rev Neurol (Paris). 2013. PMID: 24008051
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, Magdinier F, Bartoli M, Arne-Bes MC, Ferrer X, Kuntzer T, Levy N, Pouget J, Attarian S. Salort-Campana E, et al. Among authors: sacconi s. Orphanet J Rare Dis. 2015 Jan 21;10:2. doi: 10.1186/s13023-014-0218-1. Orphanet J Rare Dis. 2015. PMID: 25603992 Free PMC article.
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, Varet H, Fabbro M, Rougier F, Amarof K, Arne Bes MC, Bedat-Millet AL, Behin A, Bellance R, Bouhour F, Boutte C, Boyer F, Campana-Salort E, Chapon F, Cintas P, Desnuelle C, Deschamps R, Drouin-Garraud V, Ferrer X, Gervais-Bernard H, Ghorab K, Laforet P, Magot A, Magy L, Menard D, Minot MC, Nadaj-Pakleza A, Pellieux S, Pereon Y, Preudhomme M, Pouget J, Sacconi S, Sole G, Stojkovich T, Tiffreau V, Urtizberea A, Vial C, Zagnoli F, Caranhac G, Bourlier C, Riviere G, Geille A, Gherardi RK, Eymard B, Puymirat J, Katsahian S, Bassez G. Dogan C, et al. Among authors: sacconi s. PLoS One. 2016 Feb 5;11(2):e0148264. doi: 10.1371/journal.pone.0148264. eCollection 2016. PLoS One. 2016. PMID: 26849574 Free PMC article.
174 results