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Page 1
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: sole g. 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.
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: sole g. Neurology. 2008 Aug 5;71(6):407-12. doi: 10.1212/01.wnl.0000324257.35759.40. Neurology. 2008. PMID: 18678823 Clinical Trial.
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A. Klebe S, et al. Among authors: sole g. Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240. Brain. 2012. PMID: 23065789 Free PMC article.
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. 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
326 results