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Page 1
Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.
Moro F, Rubegni A, Pochiero F, Mero S, Procopio E, Baldacci J, Donati MA, Santorelli FM. Moro F, et al. Among authors: procopio e. Neuromuscul Disord. 2019 Jan;29(1):67-69. doi: 10.1016/j.nmd.2018.11.006. Epub 2018 Nov 22. Neuromuscul Disord. 2019. PMID: 30553701
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. Caciotti A, et al. Among authors: procopio e. Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7. Biochim Biophys Acta. 2011. PMID: 21497194 Free PMC article.
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A. Caciotti A, et al. Among authors: procopio e. Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751. Hum Mutat. 2015. PMID: 25545067
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.
Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D'Amico A, Colia G, Fanelli L, Berardinelli A, Gardani A, Lanzillotta V, D'Ambrosio P, Petillo R, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Forcina N, Magri F, Vita G, Palermo C, Donati MA, Procopio E, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Torrente Y, Previtali SC, Bruno C, Politano L, Comi GP, D'Angelo MG, Bertini E, Mercuri E. Mazzone ES, et al. Among authors: procopio e. PLoS One. 2016 Mar 16;11(3):e0151445. doi: 10.1371/journal.pone.0151445. eCollection 2016. PLoS One. 2016. PMID: 26982196 Free PMC article.
Infantile-Onset Pompe Disease: The Care Beyond the Cure.
Astrea G, Perazza S, Frosini S, Moretti E, Sacchini M, Dati E, Pecini C, Procopio E, Santorelli FM, Donati MA, Battini R. Astrea G, et al. Among authors: procopio e. J Neuromuscul Dis. 2015;2(s1):S58-S59. J Neuromuscul Dis. 2015. PMID: 27858649 No abstract available.
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.
Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C. Rubegni A, et al. Among authors: procopio e. Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15. Eur J Paediatr Neurol. 2017. PMID: 28442211
100 results