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GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.
Varesio C, De Giorgis V, Veggiotti P, Nardocci N, Granata T, Ragona F, Pasca L, Mensi MM, Borgatti R, Olivotto S, Previtali R, Riva A, Mancardi MM, Striano P, Cavallin M, Guerrini R, Operto FF, Pizzolato A, Di Maulo R, Martino F, Lodi A, Marini C. Varesio C, et al. Among authors: marini c. Orphanet J Rare Dis. 2023 Mar 21;18(1):63. doi: 10.1186/s13023-023-02628-2. Orphanet J Rare Dis. 2023. PMID: 36944981 Free PMC article.
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Bonanni P, et al. Among authors: marini c. Epilepsia. 2004 Feb;45(2):149-58. doi: 10.1111/j.0013-9580.2004.04303.x. Epilepsia. 2004. PMID: 14738422 Free article.
Genetic malformations of cortical development.
Guerrini R, Marini C. Guerrini R, et al. Among authors: marini c. Exp Brain Res. 2006 Aug;173(2):322-33. doi: 10.1007/s00221-006-0501-z. Epub 2006 May 25. Exp Brain Res. 2006. PMID: 16724181 Review.
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: marini c. 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.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
831 results