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Page 1
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Mostacciuolo ML, Corrado D, Basso C, Daliento L, Thiene G, Rampazzo A. Li Mura IE, et al. Eur J Hum Genet. 2013 Nov;21(11):1226-31. doi: 10.1038/ejhg.2013.39. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486541 Free PMC article.
A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy.
Poloni G, Calore M, Rigato I, Marras E, Minervini G, Mazzotti E, Lorenzon A, Li Mura IEA, Telatin A, Zara I, Simionati B, Perazzolo Marra M, Ponti J, Occhi G, Vitiello L, Daliento L, Thiene G, Basso C, Corrado D, Tosatto S, Bauce B, Rampazzo A, De Bortoli M. Poloni G, et al. Among authors: li mura iea. Heart Rhythm. 2019 May;16(5):773-780. doi: 10.1016/j.hrthm.2018.11.015. Epub 2018 Nov 17. Heart Rhythm. 2019. PMID: 30453078
Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.
Lorenzon A, Beffagna G, Bauce B, De Bortoli M, Li Mura IE, Calore M, Dazzo E, Basso C, Nava A, Thiene G, Rampazzo A. Lorenzon A, et al. Among authors: li mura ie. Am J Cardiol. 2013 Feb 1;111(3):400-5. doi: 10.1016/j.amjcard.2012.10.017. Epub 2012 Nov 17. Am J Cardiol. 2013. PMID: 23168288 Free PMC article.
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.
van Hengel J, Calore M, Bauce B, Dazzo E, Mazzotti E, De Bortoli M, Lorenzon A, Li Mura IE, Beffagna G, Rigato I, Vleeschouwers M, Tyberghein K, Hulpiau P, van Hamme E, Zaglia T, Corrado D, Basso C, Thiene G, Daliento L, Nava A, van Roy F, Rampazzo A. van Hengel J, et al. Among authors: li mura ie. Eur Heart J. 2013 Jan;34(3):201-10. doi: 10.1093/eurheartj/ehs373. Epub 2012 Nov 7. Eur Heart J. 2013. PMID: 23136403
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
De Bortoli M, Beffagna G, Bauce B, Lorenzon A, Smaniotto G, Rigato I, Calore M, Li Mura IE, Basso C, Thiene G, Lanfranchi G, Danieli GA, Nava A, Rampazzo A. De Bortoli M, et al. Among authors: li mura ie. Eur J Hum Genet. 2010 Jul;18(7):776-82. doi: 10.1038/ejhg.2010.19. Epub 2010 Mar 3. Eur J Hum Genet. 2010. PMID: 20197793 Free PMC article.