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456 results

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Page 1
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, Beccaria F, Capovilla G, Dalla Bernardina B, Darra F, Elia M, Giordano L, Gobbi G, Granata T, Ragona F, Guerrini R, Marini C, Mei D, Longaretti F, Romeo A, Siri L, Specchio N, Vigevano F, Striano S, Tortora F, Rossi A, Minetti C, Dravet C, Gaggero R, Zara F. Striano P, et al. Among authors: gobbi g. Epilepsia. 2007 Jun;48(6):1092-6. doi: 10.1111/j.1528-1167.2007.01020.x. Epub 2007 Mar 22. Epilepsia. 2007. PMID: 17381446 Free article.
Lack of SCN1A mutations in familial febrile seizures.
Malacarne M, Madia F, Gennaro E, Vacca D, Güney AI, Buono S, Bernardina BD, Gaggero R, Gobbi G, Lispi ML, Malamaci D, Melideo G, Roccella M, Sferro C, Tiberti A, Vanadia F, Vigevano F, Viri F, Vitali MR, Bricarelli FD, Bianchi A, Zara F. Malacarne M, et al. Among authors: gobbi g. Epilepsia. 2002 May;43(5):559-62. doi: 10.1046/j.1528-1157.2002.29301.x. Epilepsia. 2002. PMID: 12027919 Free article.
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F. Gennaro E, et al. Among authors: gobbi g. Biochem Biophys Res Commun. 2006 Mar 10;341(2):489-93. doi: 10.1016/j.bbrc.2005.12.209. Epub 2006 Jan 13. Biochem Biophys Res Commun. 2006. PMID: 16430863
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F. Mancardi MM, et al. Among authors: gobbi g. Epilepsia. 2006 Oct;47(10):1629-35. doi: 10.1111/j.1528-1167.2006.00641.x. Epilepsia. 2006. PMID: 17054684 Free article.
Reflex myoclonic epilepsy in infancy: a multicenter clinical study.
Verrotti A, Matricardi S, Capovilla G, D'Egidio C, Cusmai R, Romeo A, Pruna D, Pavone P, Cappanera S, Granata T, Gobbi G, Striano P, Grosso S, Parisi P, Franzoni E, Striano S, Spalice A, Marino R, Vigevano F, Coppola G. Verrotti A, et al. Among authors: gobbi g. Epilepsy Res. 2013 Feb;103(2-3):237-44. doi: 10.1016/j.eplepsyres.2012.07.004. Epub 2012 Jul 20. Epilepsy Res. 2013. PMID: 22819072
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
Canafoglia L, Gennaro E, Capovilla G, Gobbi G, Boni A, Beccaria F, Viri M, Michelucci R, Agazzi P, Assereto S, Coviello DA, Di Stefano M, Rossi Sebastiano D, Franceschetti S, Zara F. Canafoglia L, et al. Among authors: gobbi g. Epilepsia. 2012 Dec;53(12):2120-7. doi: 10.1111/j.1528-1167.2012.03718.x. Epilepsia. 2012. PMID: 23205931 Free article.
Clinical dissection of early onset absence epilepsy in children and prognostic implications.
Agostinelli S, Accorsi P, Beccaria F, Belcastro V, Canevini MP, Capovilla G, Cappanera S, Dalla Bernardina B, Darra F, Del Gaudio L, Elia M, Falsaperla R, Giordano L, Gobbi G, Minetti C, Nicita F, Parisi P, Pavone P, Pezzella M, Sesta M, Spalice A, Striano S, Tozzi E, Traverso M, Vari S, Vignoli A, Zamponi N, Zara F, Striano P, Verrotti A; SINP (Società Italiana Neurologia Pediatrica) Collaborative Working Group. Agostinelli S, et al. Among authors: gobbi g. Epilepsia. 2013 Oct;54(10):1761-70. doi: 10.1111/epi.12341. Epub 2013 Aug 27. Epilepsia. 2013. PMID: 24032425 Free article.
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Malerba F, Alberini G, Balagura G, Marchese F, Amadori E, Riva A, Vari MS, Gennaro E, Madia F, Salpietro V, Angriman M, Giordano L, Accorsi P, Trivisano M, Specchio N, Russo A, Gobbi G, Raviglione F, Pisano T, Marini C, Mancardi MM, Nobili L, Freri E, Castellotti B, Capovilla G, Coppola A, Verrotti A, Martelli P, Miceli F, Maragliano L, Benfenati F, Cilio MR, Johannesen KM, Møller RS, Ceulemans B, Minetti C, Weckhuysen S, Zara F, Taglialatela M, Striano P. Malerba F, et al. Among authors: gobbi g. Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659638 Free PMC article.
456 results