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205 results

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Page 1
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: de bortoli m. 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.
Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro.
Beffagna G, De Bortoli M, Nava A, Salamon M, Lorenzon A, Zaccolo M, Mancuso L, Sigalotti L, Bauce B, Occhi G, Basso C, Lanfranchi G, Towbin JA, Thiene G, Danieli GA, Rampazzo A. Beffagna G, et al. Among authors: de bortoli m. BMC Med Genet. 2007 Oct 26;8:65. doi: 10.1186/1471-2350-8-65. BMC Med Genet. 2007. PMID: 17963498 Free PMC article.
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.
Bauce B, Rampazzo A, Basso C, Mazzotti E, Rigato I, Steriotis A, Beffagna G, Lorenzon A, De Bortoli M, Pilichou K, Marra MP, Corbetti F, Daliento L, Iliceto S, Corrado D, Thiene G, Nava A. Bauce B, et al. Among authors: de bortoli m. Heart Rhythm. 2011 Nov;8(11):1686-95. doi: 10.1016/j.hrthm.2011.06.026. Epub 2011 Jun 30. Heart Rhythm. 2011. PMID: 21723241 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: de bortoli m. Eur Heart J. 2013 Jan;34(3):201-10. doi: 10.1093/eurheartj/ehs373. Epub 2012 Nov 7. Eur Heart J. 2013. PMID: 23136403
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. Among authors: de bortoli m. 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.
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
Rigato I, Bauce B, Rampazzo A, Zorzi A, Pilichou K, Mazzotti E, Migliore F, Marra MP, Lorenzon A, De Bortoli M, Calore M, Nava A, Daliento L, Gregori D, Iliceto S, Thiene G, Basso C, Corrado D. Rigato I, et al. Among authors: de bortoli m. Circ Cardiovasc Genet. 2013 Dec;6(6):533-42. doi: 10.1161/CIRCGENETICS.113.000288. Epub 2013 Sep 26. Circ Cardiovasc Genet. 2013. PMID: 24070718
Arrhythmogenic cardiomyopathy: a disease of intercalated discs.
Calore M, Lorenzon A, De Bortoli M, Poloni G, Rampazzo A. Calore M, et al. Among authors: de bortoli m. Cell Tissue Res. 2015 Jun;360(3):491-500. doi: 10.1007/s00441-014-2015-5. Epub 2014 Oct 26. Cell Tissue Res. 2015. PMID: 25344329 Review.
Autosomal dominant lateral temporal epilepsy (ADLTE): novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras.
Dazzo E, Santulli L, Posar A, Fattouch J, Conti S, Lodén-van Straaten M, Mijalkovic J, De Bortoli M, Rosa M, Millino C, Pacchioni B, Di Bonaventura C, Giallonardo AT, Striano S, Striano P, Parmeggiani A, Nobile C. Dazzo E, et al. Among authors: de bortoli m. Epilepsy Res. 2015 Feb;110:132-8. doi: 10.1016/j.eplepsyres.2014.12.004. Epub 2014 Dec 16. Epilepsy Res. 2015. PMID: 25616465
205 results