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Page 1
Progressive myoclonic epilepsies: definitive and still undetermined causes.
Franceschetti S, Michelucci R, Canafoglia L, Striano P, Gambardella A, Magaudda A, Tinuper P, La Neve A, Ferlazzo E, Gobbi G, Giallonardo AT, Capovilla G, Visani E, Panzica F, Avanzini G, Tassinari CA, Bianchi A, Zara F; Collaborative LICE study group on PMEs. Franceschetti S, et al. Among authors: gobbi g. Neurology. 2014 Feb 4;82(5):405-11. doi: 10.1212/WNL.0000000000000077. Epub 2014 Jan 2. Neurology. 2014. PMID: 24384641 Free PMC article.
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F. Striano P, et al. Among authors: gobbi g. Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Arch Neurol. 2012. PMID: 22083797 Free article. Review.
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.
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.
Refractory absence seizures: An Italian multicenter retrospective study.
Franzoni E, Matricardi S, Di Pisa V, Capovilla G, Romeo A, Tozzi E, Pruna D, Salerno GG, Zamponi N, Accorsi P, Giordano L, Coppola G, Cerminara C, Curatolo P, Nicita F, Spalice A, Grosso S, Pavone P, Striano P, Parisi P, Boni A, Gobbi G, Carotenuto M, Esposito M, Cottone C, Verrotti A. Franzoni E, et al. Among authors: gobbi g. Eur J Paediatr Neurol. 2015 Nov;19(6):660-4. doi: 10.1016/j.ejpn.2015.07.008. Epub 2015 Jul 18. Eur J Paediatr Neurol. 2015. PMID: 26239083
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