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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: perniconi b. 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
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: perniconi b. 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
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. Among authors: perniconi b. Sci Rep. 2016 Nov 4;6:36182. doi: 10.1038/srep36182. Sci Rep. 2016. PMID: 27812025 Free PMC article.
Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.
Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME. Harlaar L, et al. Among authors: perniconi b. Neurology. 2019 Nov 5;93(19):e1756-e1767. doi: 10.1212/WNL.0000000000008441. Epub 2019 Oct 16. Neurology. 2019. PMID: 31619483 Free PMC article.
Dynamics of circulating calprotectin accurately predict the outcome of moderate COVID-19 patients.
Chapuis N, Ibrahimi N, Belmondo T, Goulvestre C, Berger AE, Mariaggi AA, Andrieu M, Chenevier-Gobeaux C, Bayle A, Campos L, Cheurfa C, Chocron R, Diehl JL, Doumenc B, Duchemin J, Duprat M, François F, Gendron N, Mirault T, Pène F, Philippe A, Pommeret F, Sanchez O, Smadja DM, Szwebel TA, Silvin A, Ginhoux F, Lacroix L, Jules-Clément G, Rapeteramana S, Mavier C, Steller L, Perniconi B, André F, Drubay D, Fontenay M, Hüe S, Paul S, Solary E. Chapuis N, et al. Among authors: perniconi b. EBioMedicine. 2022 Jun;80:104077. doi: 10.1016/j.ebiom.2022.104077. Epub 2022 May 26. EBioMedicine. 2022. PMID: 35644124 Free PMC article.
Muscle extracellular matrix scaffold is a multipotent environment.
Aulino P, Costa A, Chiaravalloti E, Perniconi B, Adamo S, Coletti D, Marrelli M, Tatullo M, Teodori L. Aulino P, et al. Among authors: perniconi b. Int J Med Sci. 2015 Apr 6;12(4):336-40. doi: 10.7150/ijms.10761. eCollection 2015. Int J Med Sci. 2015. PMID: 25897295 Free PMC article.
26 results