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53 results

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Page 1
The clinical spectrum of CASQ1-related myopathy.
Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E. Semplicini C, et al. Neurology. 2018 Oct 23;91(17):e1629-e1641. doi: 10.1212/WNL.0000000000006387. Epub 2018 Sep 26. Neurology. 2018. PMID: 30258016 Free PMC 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
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
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
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.
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.
53 results