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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
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
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA.
Reinthaler EM, et al.
Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16.
Hum Mol Genet. 2014.
PMID: 24939913
Free article.
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Diazepam-bound GABAA receptor models identify new benzodiazepine binding-site ligands.
Richter L, de Graaf C, Sieghart W, Varagic Z, Mörzinger M, de Esch IJ, Ecker GF, Ernst M.
Richter L, et al. Among authors: morzinger m.
Nat Chem Biol. 2012 Mar 25;8(5):455-64. doi: 10.1038/nchembio.917.
Nat Chem Biol. 2012.
PMID: 22446838
Free PMC article.
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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium; Sander T.
Lal D, et al.
PLoS Genet. 2015 May 7;11(5):e1005226. doi: 10.1371/journal.pgen.1005226. eCollection 2015 May.
PLoS Genet. 2015.
PMID: 25950944
Free PMC article.
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Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium.
Lal D, et al.
Epilepsia. 2013 Feb;54(2):265-71. doi: 10.1111/epi.12084. Epub 2013 Jan 25.
Epilepsia. 2013.
PMID: 23350840
Free article.
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Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium.
Møller RS, et al.
Epilepsia. 2013 Feb;54(2):256-64. doi: 10.1111/epi.12078. Epub 2013 Jan 7.
Epilepsia. 2013.
PMID: 23294455
Free article.
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