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Page 1
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: semplicini c. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Brain. 2020. PMID: 32875335
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.
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.
Burden, professional support, and social network in families of children and young adults with muscular dystrophies.
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, Chiara Motta M, Angelini C, Gaiani A, Semplicini C, Bello L, Battini R, Astrea G, Politano L. Magliano L, et al. Among authors: semplicini c. Muscle Nerve. 2015 Jul;52(1):13-21. doi: 10.1002/mus.24503. Epub 2015 Apr 22. Muscle Nerve. 2015. PMID: 25363165 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.
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study.
Magliano L, D'Angelo MG, Vita G, Pane M, D'Amico A, Balottin U, Angelini C, Battini R, Politano L, Patalano M, Sagliocchi A, Civati F, Brighina E, Vita GL, Messina S, Sframeli M, Lombardo ME, Scalise R, Colia G, Catteruccia M, Berardinelli A, Motta MC, Gaiani A, Semplicini C, Bello L, Astrea G, Zaccaro A, Scutifero M. Magliano L, et al. Among authors: semplicini c. Acta Myol. 2014 Dec;33(3):136-43. Acta Myol. 2014. PMID: 25873782 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.
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
Magri F, Nigro V, Angelini C, Mongini T, Mora M, Moroni I, Toscano A, D'angelo MG, Tomelleri G, Siciliano G, Ricci G, Bruno C, Corti S, Musumeci O, Tasca G, Ricci E, Monforte M, Sciacco M, Fiorillo C, Gandossini S, Minetti C, Morandi L, Savarese M, Fruscio GD, Semplicini C, Pegoraro E, Govoni A, Brusa R, Del Bo R, Ronchi D, Moggio M, Bresolin N, Comi GP. Magri F, et al. Among authors: semplicini c. Muscle Nerve. 2017 Jan;55(1):55-68. doi: 10.1002/mus.25192. Epub 2016 Oct 28. Muscle Nerve. 2017. PMID: 27184587 Free article.
54 results