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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: nobile c. 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.
Analysis of 22 deletion breakpoints in dystrophin intron 49.
Nobile C, Toffolatti L, Rizzi F, Simionati B, Nigro V, Cardazzo B, Patarnello T, Valle G, Danieli GA. Nobile C, et al. Hum Genet. 2002 May;110(5):418-21. doi: 10.1007/s00439-002-0721-7. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073011
Familial epilepsy and developmental dysphasia: description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci.
Michelucci R, Scudellaro E, Testoni S, Passarelli D, Riguzzi P, Diani E, Vazza G, Vianello V, Scabar A, Mostacciuolo ML, Volpi L, Rubboli G, Pinardi F, Mancardi MM, Tassinari CA, Nobile C. Michelucci R, et al. Among authors: nobile c. Epilepsy Res. 2008 Jul;80(1):9-17. doi: 10.1016/j.eplepsyres.2008.03.014. Epub 2008 May 27. Epilepsy Res. 2008. PMID: 18508238
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy.
Fanciulli M, Santulli L, Errichiello L, Barozzi C, Tomasi L, Rigon L, Cubeddu T, de Falco A, Rampazzo A, Michelucci R, Uzzau S, Striano S, de Falco FA, Striano P, Nobile C. Fanciulli M, et al. Among authors: nobile c. Neurology. 2012 Apr 24;78(17):1299-303. doi: 10.1212/WNL.0b013e3182518328. Epub 2012 Apr 11. Neurology. 2012. PMID: 22496201 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: nobile c. 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.
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: nobile c. 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. Among authors: nobile c. Epilepsy Res. 2015 Feb;110:132-8. doi: 10.1016/j.eplepsyres.2014.12.004. Epub 2014 Dec 16. Epilepsy Res. 2015. PMID: 25616465
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. Among authors: nobile c. 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.
374 results