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97 results

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Page 1
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R. Conti V, et al. Among authors: parrini e. Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20. Brain. 2013. PMID: 24056535
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S. Guerrini R, et al. Among authors: parrini e. Ann Neurol. 2003 Jul;54(1):30-7. doi: 10.1002/ana.10588. Ann Neurol. 2003. PMID: 12838518
Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. Leeflang EP, et al. Among authors: parrini e. J Med Genet. 2003 Dec;40(12):e128. doi: 10.1136/jmg.40.12.e128. J Med Genet. 2003. PMID: 14684696 Free PMC article. No abstract available.
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: parrini e. Epilepsia. 2004 Feb;45(2):149-58. doi: 10.1111/j.0013-9580.2004.04303.x. Epilepsia. 2004. PMID: 14738422 Free article.
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E. Guerrini R, et al. Among authors: parrini e. Neurology. 2004 Jul 13;63(1):51-6. doi: 10.1212/01.wnl.0000132818.84827.4d. Neurology. 2004. PMID: 15249610
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Sheen VL, et al. Among authors: parrini e. Neurology. 2005 Jan 25;64(2):254-62. doi: 10.1212/01.WNL.0000149512.79621.DF. Neurology. 2005. PMID: 15668422
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R. Parrini E, et al. Brain. 2006 Jul;129(Pt 7):1892-906. doi: 10.1093/brain/awl125. Epub 2006 May 9. Brain. 2006. PMID: 16684786
97 results