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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
EPICURE Consortium; EMINet Consortium; Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T. EPICURE Consortium, et al. Among authors: guerrero r. Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4. Hum Mol Genet. 2012. PMID: 22949513
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C; EPICURE Consortium. Striano P, et al. Among authors: guerrero r. Neurology. 2012 Feb 21;78(8):557-62. doi: 10.1212/WNL.0b013e318247ff54. Epub 2012 Jan 25. Neurology. 2012. PMID: 22282645
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
Baranzini SE, Wang J, Gibson RA, Galwey N, Naegelin Y, Barkhof F, Radue EW, Lindberg RL, Uitdehaag BM, Johnson MR, Angelakopoulou A, Hall L, Richardson JC, Prinjha RK, Gass A, Geurts JJ, Kragt J, Sombekke M, Vrenken H, Qualley P, Lincoln RR, Gomez R, Caillier SJ, George MF, Mousavi H, Guerrero R, Okuda DT, Cree BA, Green AJ, Waubant E, Goodin DS, Pelletier D, Matthews PM, Hauser SL, Kappos L, Polman CH, Oksenberg JR. Baranzini SE, et al. Among authors: guerrero r. Hum Mol Genet. 2009 Feb 15;18(4):767-78. doi: 10.1093/hmg/ddn388. Epub 2008 Nov 14. Hum Mol Genet. 2009. PMID: 19010793 Free PMC article.
Laforin and malin deletions in mice produce similar neurologic impairments.
García-Cabrero AM, Marinas A, Guerrero R, de Córdoba SR, Serratosa JM, Sánchez MP. García-Cabrero AM, et al. Among authors: guerrero r. J Neuropathol Exp Neurol. 2012 May;71(5):413-21. doi: 10.1097/NEN.0b013e318253350f. J Neuropathol Exp Neurol. 2012. PMID: 22487859
A PTG variant contributes to a milder phenotype in Lafora disease.
Guerrero R, Vernia S, Sanz R, Abreu-Rodríguez I, Almaraz C, García-Hoyos M, Michelucci R, Tassinari CA, Riguzzi P, Nobile C, Sanz P, Serratosa JM, Gómez-Garre P. Guerrero R, et al. PLoS One. 2011;6(6):e21294. doi: 10.1371/journal.pone.0021294. Epub 2011 Jun 30. PLoS One. 2011. PMID: 21738631 Free PMC article.
675 results