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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: fanciulli m. 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.
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.
Michelucci R, Pulitano P, Di Bonaventura C, Binelli S, Luisi C, Pasini E, Striano S, Striano P, Coppola G, La Neve A, Giallonardo AT, Mecarelli O, Serioli E, Dazzo E, Fanciulli M, Nobile C. Michelucci R, et al. Among authors: fanciulli m. Epilepsy Behav. 2017 Mar;68:103-107. doi: 10.1016/j.yebeh.2016.12.003. Epub 2017 Jan 28. Epilepsy Behav. 2017. PMID: 28142128 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: fanciulli 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.
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: fanciulli m. Epilepsia. 2013 Jul;54(7):1288-97. doi: 10.1111/epi.12194. Epub 2013 Apr 26. Epilepsia. 2013. PMID: 23621105 Free article.
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. Neurology. 2012 Apr 24;78(17):1299-303. doi: 10.1212/WNL.0b013e3182518328. Epub 2012 Apr 11. Neurology. 2012. PMID: 22496201 Free PMC article.
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.
Mocci E, Concas MP, Fanciulli M, Pirastu N, Adamo M, Cabras V, Fraumene C, Persico I, Sassu A, Picciau A, Prodi DA, Serra D, Biino G, Pirastu M, Angius A. Mocci E, et al. Among authors: fanciulli m. BMC Med Genet. 2009 Aug 28;10:81. doi: 10.1186/1471-2350-10-81. BMC Med Genet. 2009. PMID: 19715579 Free PMC article.
216 results