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The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: melacini p. J Neuromuscul Dis. 2024;11(2):285-297. doi: 10.3233/JND-230129. J Neuromuscul Dis. 2024. PMID: 38363615 Free PMC article.
Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.
De Bortoli M, Vio R, Basso C, Calore M, Minervini G, Angelini A, Melacini P, Vitiello L, Vazza G, Thiene G, Tosatto S, Corrado D, Iliceto S, Rampazzo A, Calore C. De Bortoli M, et al. Among authors: melacini p. Circ Genom Precis Med. 2020 Apr;13(2):e002824. doi: 10.1161/CIRCGEN.119.002824. Epub 2020 Jan 31. Circ Genom Precis Med. 2020. PMID: 32004434 No abstract available.
Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy.
De Bortoli M, Calore C, Lorenzon A, Calore M, Poloni G, Mazzotti E, Rigato I, Marra MP, Melacini P, Iliceto S, Thiene G, Basso C, Daliento L, Corrado D, Rampazzo A, Bauce B. De Bortoli M, et al. Among authors: melacini p. Eur J Hum Genet. 2017 Oct;25(10):1165-1169. doi: 10.1038/ejhg.2017.109. Epub 2017 Jul 12. Eur J Hum Genet. 2017. PMID: 28699631 Free PMC article.
Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.
Perrot A, Tomasov P, Villard E, Faludi R, Melacini P, Lossie J, Lohmann N, Richard P, De Bortoli M, Angelini A, Varga-Szemes A, Sperling SR, Simor T, Veselka J, Özcelik C, Charron P. Perrot A, et al. Among authors: melacini p. Arch Med Sci. 2016 Apr 1;12(2):263-78. doi: 10.5114/aoms.2016.59250. Epub 2016 Apr 11. Arch Med Sci. 2016. PMID: 27186169 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: melacini p. PLoS One. 2015 Oct 29;10(10):e0141240. doi: 10.1371/journal.pone.0141240. eCollection 2015. PLoS One. 2015. PMID: 26513582 Free PMC article.
Diagnostic approach to the congenital muscular dystrophies.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Bönnemann CG, et al. Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9. Neuromuscul Disord. 2014. PMID: 24581957 Free PMC article.
Prevalence and clinical meaning of isolated increase of QRS voltages in hypertrophic cardiomyopathy versus athlete's heart: relevance to athletic screening.
Calore C, Melacini P, Pelliccia A, Cianfrocca C, Schiavon M, Di Paolo FM, Bovolato F, Quattrini FM, Basso C, Thiene G, Iliceto S, Corrado D. Calore C, et al. Among authors: melacini p. Int J Cardiol. 2013 Oct;168(4):4494-7. doi: 10.1016/j.ijcard.2013.06.123. Epub 2013 Aug 5. Int J Cardiol. 2013. PMID: 23928341 No abstract available.
No evidence of cardiomyopathy in spinal and bulbar muscular atrophy.
Querin G, Melacini P, D'Ascenzo C, Morandi L, Mazzini L, Silani V, Romito S, Mandrioli J, Raimondi M, Pegoraro E, Soraru' G. Querin G, et al. Among authors: melacini p. Acta Neurol Scand. 2013 Dec;128(6):e30-2. doi: 10.1111/ane.12140. Epub 2013 May 16. Acta Neurol Scand. 2013. PMID: 23679084
74 results