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Page 1
Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic.
Tard C, Salort-Campana E, Michaud M, Spinazzi M, Nadaj Pakleza A, Durr H, Bouhour F, Lefeuvre C, Thomas R, Arrassi A, Taouagh N; Pompe Study Group; Solé G, Laforêt P. Tard C, et al. Among authors: sole g. Eur J Neurol. 2022 Apr;29(4):1181-1186. doi: 10.1111/ene.15222. Epub 2022 Jan 8. Eur J Neurol. 2022. PMID: 34927321
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.
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.
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.
Papadopoulos C, Orlikowski D, Prigent H, Lacour A, Tard C, Furby A, Praline J, Solé G, Hogrel JY, De Antonio M, Semplicini C, Deibener-Kaminsky J, Kaminsky P, Eymard B, Taouagh N, Perniconi B, Hamroun D, Laforêt P; French Pompe Study Group. Papadopoulos C, et al. Among authors: sole g. Mol Genet Metab. 2017 Sep;122(1-2):80-85. doi: 10.1016/j.ymgme.2017.06.007. Epub 2017 Jun 20. Mol Genet Metab. 2017. PMID: 28648663
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: sole g. 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
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron … See abstract for full author list ➔ Wahbi K, et al. Among authors: sole g. Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3. Circulation. 2019. PMID: 31155932
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
Salort-Campana E, Fatehi F, Beloribi-Djefaflia S, Roche S, Nguyen K, Bernard R, Cintas P, Solé G, Bouhour F, Ollagnon E, Sacconi S, Echaniz-Laguna A, Kuntzer T, Levy N, Magdinier F, Attarian S. Salort-Campana E, et al. Among authors: sole g. Int J Mol Sci. 2020 Mar 23;21(6):2221. doi: 10.3390/ijms21062221. Int J Mol Sci. 2020. PMID: 32210100 Free PMC article.
Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.
Solé G, Salort-Campana E, Pereon Y, Stojkovic T, Wahbi K, Cintas P, Adams D, Laforet P, Tiffreau V, Desguerre I, Pisella LI, Molon A, Attarian S; FILNEMUS COVID-19 study group. Solé G, et al. Rev Neurol (Paris). 2020 Jun;176(6):507-515. doi: 10.1016/j.neurol.2020.04.004. Epub 2020 Apr 20. Rev Neurol (Paris). 2020. PMID: 32354651 Free PMC article.
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, Béhin A, Bouhour F, Echaniz-Laguna A, Magot A, Nadaj-Pakleza A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Tard C, Zagnoli F, Hogrel JY, Hamroun D, Laforêt P; French Pompe Study Group. Semplicini C, et al. Among authors: sole g. J Inherit Metab Dis. 2020 Nov;43(6):1219-1231. doi: 10.1002/jimd.12272. Epub 2020 Jul 27. J Inherit Metab Dis. 2020. PMID: 32515844
Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis.
Solé G, Mathis S, Friedman D, Salort-Campana E, Tard C, Bouhour F, Magot A, Annane D, Clair B, Le Masson G, Soulages A, Duval F, Carla L, Violleau MH, Saulnier T, Segovia-Kueny S, Kern L, Antoine JC, Beaudonnet G, Audic F, Kremer L, Chanson JB, Nadaj-Pakleza A, Stojkovic T, Cintas P, Spinazzi M, Foubert-Samier A, Attarian S. Solé G, et al. Neurology. 2021 Apr 20;96(16):e2109-e2120. doi: 10.1212/WNL.0000000000011669. Epub 2021 Feb 10. Neurology. 2021. PMID: 33568541
304 results