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24 results

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Page 1
The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway.
Greco E, Aita A, Galozzi P, Gava A, Sfriso P, Negm OH, Tighe P, Caso F, Navaglia F, Dazzo E, De Bortoli M, Rampazzo A, Obici L, Donadei S, Merlini G, Plebani M, Todd I, Basso D, Punzi L. Greco E, et al. Among authors: dazzo e. Arthritis Res Ther. 2015 Apr 3;17(1):93. doi: 10.1186/s13075-015-0604-7. Arthritis Res Ther. 2015. PMID: 25888769 Free PMC article.
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: dazzo e. 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.
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: dazzo e. 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.
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. Epilepsy Res. 2015 Feb;110:132-8. doi: 10.1016/j.eplepsyres.2014.12.004. Epub 2014 Dec 16. Epilepsy Res. 2015. PMID: 25616465
A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt signalling and miRNA dysregulation.
Calore M, Lorenzon A, Vitiello L, Poloni G, Khan MAF, Beffagna G, Dazzo E, Sacchetto C, Polishchuk R, Sabatelli P, Doliana R, Carnevale D, Lembo G, Bonaldo P, De Windt L, Braghetta P, Rampazzo A. Calore M, et al. Among authors: dazzo e. Cardiovasc Res. 2019 Mar 15;115(4):739-751. doi: 10.1093/cvr/cvy253. Cardiovasc Res. 2019. PMID: 30304392
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: dazzo e. Eur Heart J. 2013 Jan;34(3):201-10. doi: 10.1093/eurheartj/ehs373. Epub 2012 Nov 7. Eur Heart J. 2013. PMID: 23136403
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.
Leonardi E, Dazzo E, Aspromonte MC, Tabaro F, Pascarelli S, Tosatto SCE, Michelucci R, Murgia A, Nobile C. Leonardi E, et al. Among authors: dazzo e. Epilepsy Res. 2018 Jan;139:51-53. doi: 10.1016/j.eplepsyres.2017.11.006. Epub 2017 Nov 21. Epilepsy Res. 2018. PMID: 29179159
24 results