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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. 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.
Genetics of epilepsy and relevance to current practice.
Michelucci R, Pasini E, Riguzzi P, Volpi L, Dazzo E, Nobile C. Michelucci R, et al. Among authors: dazzo e. Curr Neurol Neurosci Rep. 2012 Aug;12(4):445-55. doi: 10.1007/s11910-012-0281-8. Curr Neurol Neurosci Rep. 2012. PMID: 22618127 Review.
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
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.
Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.
Michelucci R, Pasini E, Malacrida S, Striano P, Bonaventura CD, Pulitano P, Bisulli F, Egeo G, Santulli L, Sofia V, Gambardella A, Elia M, de Falco A, Neve Al, Banfi P, Coppola G, Avoni P, Binelli S, Boniver C, Pisano T, Marchini M, Dazzo E, Fanciulli M, Bartolini Y, Riguzzi P, Volpi L, de Falco FA, Giallonardo AT, Mecarelli O, Striano S, Tinuper P, Nobile C. Michelucci R, et al. Among authors: dazzo e. Epilepsia. 2013 Jul;54(7):1288-97. doi: 10.1111/epi.12194. Epub 2013 Apr 26. Epilepsia. 2013. PMID: 23621105 Free 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
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.
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C. Dazzo E, et al. Am J Hum Genet. 2015 Jun 4;96(6):992-1000. doi: 10.1016/j.ajhg.2015.04.020. Am J Hum Genet. 2015. PMID: 26046367 Free PMC article.
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.
Striano P, Serioli E, Santulli L, Manna I, Labate A, Dazzo E, Pasini E, Gambardella A, Michelucci R, Striano S, Nobile C. Striano P, et al. Among authors: dazzo e. Epilepsia. 2015 Oct;56(10):e168-71. doi: 10.1111/epi.13094. Epub 2015 Jul 27. Epilepsia. 2015. PMID: 26216793 Free article.
24 results