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36 results

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Page 1
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
Tard C, Bouhour F, Michaud M, Beltran S, Fournier M, Demurger F, Lagrange E, Nollet S, Sacconi S, Noury JB, Magot A, Cintas P, Renard D, Deibener-Kaminsky J, Lefeuvre C, Davion JB, Salort-Campana E, Arrassi A, Taouagh N, Spinazzi M; Pompe Study Group; Attarian S, Laforêt P. Tard C, et al. Eur J Neurol. 2024 Jul;31(7):e16292. doi: 10.1111/ene.16292. Epub 2024 Apr 8. Eur J Neurol. 2024. PMID: 38587143 Free PMC article.
Development and validation of a motor function classification in patients with neuromuscular disease: the NM-score.
Vuillerot C, Rippert P, Roche S, Bérard C, Margirier F, de Lattre C, Poirot I, Berruyer A, Tiffreau V, Fournier-Mehouas M, Bouhour F, Urtizberea JA, Renders A, Ecochard R; Le groupe d’étude NM-Score. Vuillerot C, et al. Ann Phys Rehabil Med. 2013 Dec;56(9-10):673-86. doi: 10.1016/j.rehab.2013.10.002. Epub 2013 Oct 18. Ann Phys Rehabil Med. 2013. PMID: 24231198 Free article.
[Indications of electroencephalogram in the newborn].
Lamblin MD, André M, Auzoux M, Bednarek N, Bour F, Charollais A, Cheliout-Heraut F, D'Allest AM, De Bellecize J, Delanoe C, Furby A, Frenkel AL, Keo-Kosal P, Mony L, Moutard ML, Navelet Y, Nedelcoux H, Nguyen TT, Nogues B, Plouin P, Salefranque F, Soufflet C, Touzery de Villepin A, Vecchierini MF, Wallois F, Esquivel-Walls E. Lamblin MD, et al. Among authors: furby a. Arch Pediatr. 2004 Jul;11(7):829-33. doi: 10.1016/j.arcped.2004.01.031. Arch Pediatr. 2004. PMID: 15234381 Review. French.
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. 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
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Masat E, Laforêt P, De Antonio M, Corre G, Perniconi B, Taouagh N, Mariampillai K, Amelin D, Mauhin W, Hogrel JY, Caillaud C, Ronzitti G, Puzzo F, Kuranda K, Colella P, Mallone R, Benveniste O, Mingozzi F; French Pompe Registry Study Group. Masat E, et al. Sci Rep. 2016 Nov 4;6:36182. doi: 10.1038/srep36182. Sci Rep. 2016. PMID: 27812025 Free PMC article.
36 results