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330 results

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Page 1
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT. Mills PB, et al. Among authors: del giudice e. Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18. Brain. 2014. PMID: 24645144 Free PMC article.
Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy.
Pauletti A, Terrone G, Shekh-Ahmad T, Salamone A, Ravizza T, Rizzi M, Pastore A, Pascente R, Liang LP, Villa BR, Balosso S, Abramov AY, van Vliet EA, Del Giudice E, Aronica E, Antoine DJ, Patel M, Walker MC, Vezzani A. Pauletti A, et al. Among authors: del giudice e. Brain. 2017 Jul 1;140(7):1885-1899. doi: 10.1093/brain/awx117. Brain. 2017. PMID: 28575153 Free PMC article. Retracted. Retracted and republished.
Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy.
Pauletti A, Terrone G, Shekh-Ahmad T, Salamone A, Ravizza T, Rizzi M, Pastore A, Pascente R, Liang LP, Villa BR, Balosso S, Abramov AY, van Vliet EA, Del Giudice E, Aronica E, Patel M, Walker MC, Vezzani A. Pauletti A, et al. Among authors: del giudice e. Brain. 2019 Jul 1;142(7):e39. doi: 10.1093/brain/awz130. Brain. 2019. PMID: 31145451 Free PMC article.
Familial occurrence of early-onset childhood absence epilepsy.
Titomanlio L, Romano A, Bellini G, Pascotto A, Iuliano R, Miraglia Del Giudice E, Del Giudice E. Titomanlio L, et al. Among authors: del giudice e. Eur J Paediatr Neurol. 2007 May;11(3):178-80. doi: 10.1016/j.ejpn.2006.12.005. Epub 2007 Jan 30. Eur J Paediatr Neurol. 2007. PMID: 17267250
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: del giudice e. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472
Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study.
Cirillo E, Del Giudice E, Micheli R, Cappellari AM, Soresina A, Dellepiane RM, Pietrogrande MC, Dell'Era L, Specchia F, Pession A, Plebani A, Pignata C. Cirillo E, et al. Among authors: del giudice e. Eur J Neurol. 2018 Jun;25(6):833-840. doi: 10.1111/ene.13606. Epub 2018 Mar 26. Eur J Neurol. 2018. PMID: 29489040
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.
Terrone G, Vitiello G, Genesio R, D'Amico A, Imperati F, Ugga L, Giugliano T, Piluso G, Nitsch L, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Among authors: del giudice e. Eur J Paediatr Neurol. 2017 Nov;21(6):902-906. doi: 10.1016/j.ejpn.2017.07.006. Epub 2017 Jul 20. Eur J Paediatr Neurol. 2017. PMID: 28754298
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Among authors: del giudice e. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.
330 results