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53 results

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Page 1
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY. Barp A, et al. Among authors: semplicini c. J Neurol. 2020 Jan;267(1):45-56. doi: 10.1007/s00415-019-09539-y. Epub 2019 Sep 25. J Neurol. 2020. PMID: 31555977 Free article.
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II.
Angelini C, Semplicini C, Tonin P, Filosto M, Pegoraro E, Sorarù G, Fanin M. Angelini C, et al. Among authors: semplicini c. Ther Adv Neurol Disord. 2009 May;2(3):143-53. doi: 10.1177/1756285609103324. Ther Adv Neurol Disord. 2009. PMID: 21179524 Free PMC article.
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, Moggio M, Filosto M, Sette E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Di Iorio G, Siciliano G, Donati MA, Carubbi F, Ermani M, Mongini T, Toscano A; Italian GSDII Group. Angelini C, et al. Among authors: semplicini c. J Neurol. 2012 May;259(5):952-8. doi: 10.1007/s00415-011-6293-5. Epub 2011 Nov 12. J Neurol. 2012. PMID: 22081099
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.
Peterle E, Fanin M, Semplicini C, Padilla JJ, Nigro V, Angelini C. Peterle E, et al. Among authors: semplicini c. J Neurol. 2013 Aug;260(8):2033-41. doi: 10.1007/s00415-013-6931-1. Epub 2013 Apr 30. J Neurol. 2013. PMID: 23632945
"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.
Magliano L, Patalano M, Sagliocchi A, Scutifero M, Zaccaro A, D'Angelo MG, Civati F, Brighina E, Vita G, Vita GL, Messina S, Sframeli M, Pane M, Lombardo ME, Scalise R, D'Amico A, Colia G, Catteruccia M, Balottin U, Berardinelli A, Motta MC, Angelini C, Gaiani A, Semplicini C, Bello L, Battini R, Astrea G, Ricci G, Politano L. Magliano L, et al. Among authors: semplicini c. J Neurol. 2014 Jan;261(1):188-95. doi: 10.1007/s00415-013-7176-8. Epub 2013 Nov 8. J Neurol. 2014. PMID: 24202786 Free PMC article.
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.
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.
Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, Caretta N, Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello L, Semplicini C, Pareyson D, Silani V, Ermani M, Ferlin A, Sorarù G; Italian Study Group on Kennedy's disease. Querin G, et al. Among authors: semplicini c. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):810-6. doi: 10.1136/jnnp-2015-311305. Epub 2015 Oct 26. J Neurol Neurosurg Psychiatry. 2016. PMID: 26503015 Free PMC article.
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy.
Barp A, Bello L, Politano L, Melacini P, Calore C, Polo A, Vianello S, Sorarù G, Semplicini C, Pantic B, Taglia A, Picillo E, Magri F, Gorni K, Messina S, Vita GL, Vita G, Comi GP, Ermani M, Calvo V, Angelini C, Hoffman EP, Pegoraro E. Barp A, et al. Among authors: semplicini c. PLoS One. 2015 Oct 29;10(10):e0141240. doi: 10.1371/journal.pone.0141240. eCollection 2015. PLoS One. 2015. PMID: 26513582 Free PMC article.
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Cao M, Donà M, Valentino ML, Valentino L, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E. Cao M, et al. Among authors: semplicini c. Neurogenetics. 2016 Jan;17(1):65-70. doi: 10.1007/s10048-015-0465-x. Epub 2015 Nov 10. Neurogenetics. 2016. PMID: 26556812
53 results