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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. 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
Enzyme replacement therapy for Pompe disease.
Angelini C, Semplicini C. Angelini C, et al. Among authors: semplicini c. Curr Neurol Neurosci Rep. 2012 Feb;12(1):70-5. doi: 10.1007/s11910-011-0236-5. Curr Neurol Neurosci Rep. 2012. PMID: 22002767 Review.
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy.
Angelini C, Semplicini C, Ravaglia S, Moggio M, Comi GP, Musumeci O, Pegoraro E, Tonin P, Filosto M, Servidei S, Morandi L, Crescimanno G, Marrosu G, Siciliano G, Mongini T, Toscano A; Italian Group on GSDII. Angelini C, et al. Among authors: semplicini c. Muscle Nerve. 2012 Jun;45(6):831-4. doi: 10.1002/mus.23340. Muscle Nerve. 2012. PMID: 22581536
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.
Bertoldo F, Zappini F, Brigo M, Moggio M, Lucchini V, Angelini C, Semplicini C, Filosto M, Ravaglia S, Cotelli S, Todeschini A, Scarpelli M, Pancheri S, Tonin P. Bertoldo F, et al. Among authors: semplicini c. J Clin Endocrinol Metab. 2015 Feb;100(2):401-6. doi: 10.1210/jc.2014-2763. Epub 2014 Nov 14. J Clin Endocrinol Metab. 2015. PMID: 25396301
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Semplicini C, Vissing J, Dahlqvist JR, Stojkovic T, Bello L, Witting N, Duno M, Leturcq F, Bertolin C, D'Ambrosio P, Eymard B, Angelini C, Politano L, Laforêt P, Pegoraro E. Semplicini C, et al. Neurology. 2015 Apr 28;84(17):1772-81. doi: 10.1212/WNL.0000000000001519. Epub 2015 Apr 10. Neurology. 2015. PMID: 25862795 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: semplicini c. 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
The role of electrodiagnosis with long exercise test in mcardle disease.
Semplicini C, Hézode-Arzel M, Laforêt P, Béhin A, Leonard-Louis S, Hogrel JY, Petit F, Eymard B, Stojkovic T, Fournier E. Semplicini C, et al. Muscle Nerve. 2018 Jan 19. doi: 10.1002/mus.26074. Online ahead of print. Muscle Nerve. 2018. PMID: 29350794
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. Moore UR, et al. Among authors: semplicini c. J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1224-1226. doi: 10.1136/jnnp-2017-317329. Epub 2018 Jan 29. J Neurol Neurosurg Psychiatry. 2018. PMID: 29378789 Free PMC article. No abstract available.
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V. Savarese M, et al. Among authors: semplicini c. Neuromuscul Disord. 2018 Jul;28(7):586-591. doi: 10.1016/j.nmd.2018.03.011. Epub 2018 Apr 9. Neuromuscul Disord. 2018. PMID: 29880332 Free article.
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A. Filosto M, et al. Among authors: semplicini c. Adv Ther. 2019 May;36(5):1177-1189. doi: 10.1007/s12325-019-00926-5. Epub 2019 Mar 16. Adv Ther. 2019. PMID: 30879255
54 results