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106 results

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Page 1
Lissencephaly: Expanded imaging and clinical classification.
Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB. Di Donato N, et al. Among authors: parrini e. Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25. Am J Med Genet A. 2017. PMID: 28440899 Free PMC article.
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
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
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.
Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E, Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti A, Guerrini R, Casari G. Aridon P, et al. Among authors: parrini e. Am J Hum Genet. 2006 Aug;79(2):342-50. doi: 10.1086/506459. Epub 2006 Jun 26. Am J Hum Genet. 2006. PMID: 16826524 Free PMC article.
106 results