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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortiu… See abstract for full author list ➔ May P, et al. Among authors: uitterlinden ag. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. Lancet Neurol. 2018. PMID: 30033060 Free article.
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium; Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F. Reinthaler EM, et al. Among authors: uitterlinden ag. Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28. Ann Neurol. 2015. PMID: 25726841
Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.
de Vries PS, Boender J, Sonneveld MA, Rivadeneira F, Ikram MA, Rottensteiner H, Hofman A, Uitterlinden AG, Leebeek FW, Franco OH, Dehghan A, de Maat MP. de Vries PS, et al. Among authors: uitterlinden ag. Blood. 2015 Jun 18;125(25):3949-55. doi: 10.1182/blood-2015-02-629865. Epub 2015 May 1. Blood. 2015. PMID: 25934476 Free article.
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium; Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Lal D, et al. Among authors: uitterlinden ag. PLoS One. 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016. PLoS One. 2016. PMID: 26990884 Free PMC article. Clinical Trial.
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.
Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P. Holstege H, et al. Among authors: uitterlinden ag. Eur J Hum Genet. 2017 Aug;25(8):973-981. doi: 10.1038/ejhg.2017.87. Epub 2017 May 24. Eur J Hum Genet. 2017. PMID: 28537274 Free PMC article.
Establishing the role of rare coding variants in known Parkinson's disease risk loci.
Jansen IE, Gibbs JR, Nalls MA, Price TR, Lubbe S, van Rooij J, Uitterlinden AG, Kraaij R, Williams NM, Brice A, Hardy J, Wood NW, Morris HR, Gasser T, Singleton AB, Heutink P, Sharma M; International Parkinson's Disease Genomics Consortium. Jansen IE, et al. Among authors: uitterlinden ag. Neurobiol Aging. 2017 Nov;59:220.e11-220.e18. doi: 10.1016/j.neurobiolaging.2017.07.009. Epub 2017 Aug 2. Neurobiol Aging. 2017. PMID: 28867149 Free PMC article.
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J; International Parkinson’s Disease Genomics Consortium (IPDGC); Heutink P, Shulman JM. Robak LA, et al. Among authors: uitterlinden ag. Brain. 2017 Dec 1;140(12):3191-3203. doi: 10.1093/brain/awx285. Brain. 2017. PMID: 29140481 Free PMC article.
Microbiome measurement: Possibilities and pitfalls.
Radjabzadeh D, Uitterlinden AG, Kraaij R. Radjabzadeh D, et al. Among authors: uitterlinden ag. Best Pract Res Clin Gastroenterol. 2017 Dec;31(6):619-623. doi: 10.1016/j.bpg.2017.10.008. Epub 2017 Oct 31. Best Pract Res Clin Gastroenterol. 2017. PMID: 29566904 Review.
1,283 results