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18 results

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Page 1
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
Kilarski LL, Pearson JP, Newsway V, Majounie E, Knipe MD, Misbahuddin A, Chinnery PF, Burn DJ, Clarke CE, Marion MH, Lewthwaite AJ, Nicholl DJ, Wood NW, Morrison KE, Williams-Gray CH, Evans JR, Sawcer SJ, Barker RA, Wickremaratchi MM, Ben-Shlomo Y, Williams NM, Morris HR. Kilarski LL, et al. Mov Disord. 2012 Oct;27(12):1522-9. doi: 10.1002/mds.25132. Epub 2012 Sep 6. Mov Disord. 2012. PMID: 22956510 Review.
Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease.
Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P; International Parkinson's Disease Genomics Consortium; Wellcome Trust Case Control Consortium; Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, Morris HR. Simón-Sánchez J, et al. Among authors: kilarski ll. PLoS One. 2012;7(3):e28787. doi: 10.1371/journal.pone.0028787. Epub 2012 Mar 12. PLoS One. 2012. PMID: 22427796 Free PMC article.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. Am J Hum Genet. 2016. PMID: 26942284 Free PMC article.
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.
Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Büchel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, Guerreiro R, Hernandez DG, Brice A, Ylikotila P, Stefánsson H, Majamaa K, Morris HR, Williams N, Gasser T, Heutink P, Wood NW, Hardy J, Martinez M, Singleton AB, Nalls MA; International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2). Keller MF, et al. Among authors: kilarski ll. Hum Mol Genet. 2012 Nov 15;21(22):4996-5009. doi: 10.1093/hmg/dds335. Epub 2012 Aug 13. Hum Mol Genet. 2012. PMID: 22892372 Free PMC article.
Differential effects of severe vs mild GBA mutations on Parkinson disease.
Gan-Or Z, Amshalom I, Kilarski LL, Bar-Shira A, Gana-Weisz M, Mirelman A, Marder K, Bressman S, Giladi N, Orr-Urtreger A. Gan-Or Z, et al. Among authors: kilarski ll. Neurology. 2015 Mar 3;84(9):880-7. doi: 10.1212/WNL.0000000000001315. Epub 2015 Feb 4. Neurology. 2015. PMID: 25653295 Free PMC article.
A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach.
Traylor M, Mäkelä KM, Kilarski LL, Holliday EG, Devan WJ, Nalls MA, Wiggins KL, Zhao W, Cheng YC, Achterberg S, Malik R, Sudlow C, Bevan S, Raitoharju E; METASTROKE, International Stroke Genetics Consortium, Wellcome Trust Case Consortium 2 (WTCCC2); Oksala N, Thijs V, Lemmens R, Lindgren A, Slowik A, Maguire JM, Walters M, Algra A, Sharma P, Attia JR, Boncoraglio GB, Rothwell PM, de Bakker PI, Bis JC, Saleheen D, Kittner SJ, Mitchell BD, Rosand J, Meschia JF, Levi C, Dichgans M, Lehtimäki T, Lewis CM, Markus HS. Traylor M, et al. Among authors: kilarski ll. PLoS Genet. 2014 Jul 31;10(7):e1004469. doi: 10.1371/journal.pgen.1004469. eCollection 2014 Jul. PLoS Genet. 2014. PMID: 25078452 Free PMC article.
Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.
Traylor M, Zhang CR, Adib-Samii P, Devan WJ, Parsons OE, Lanfranconi S, Gregory S, Cloonan L, Falcone GJ, Radmanesh F, Fitzpatrick K, Kanakis A, Barrick TR, Moynihan B, Lewis CM, Boncoraglio GB, Lemmens R, Thijs V, Sudlow C, Wardlaw J, Rothwell PM, Meschia JF, Worrall BB, Levi C, Bevan S, Furie KL, Dichgans M, Rosand J, Markus HS, Rost N; International Stroke Genetics Consortium. Traylor M, et al. Neurology. 2016 Jan 12;86(2):146-53. doi: 10.1212/WNL.0000000000002263. Epub 2015 Dec 16. Neurology. 2016. PMID: 26674333 Free PMC article.
Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12.
Kilarski LL, Achterberg S, Devan WJ, Traylor M, Malik R, Lindgren A, Pare G, Sharma P, Slowik A, Thijs V, Walters M, Worrall BB, Sale MM, Algra A, Kappelle LJ, Wijmenga C, Norrving B, Sandling JK, Rönnblom L, Goris A, Franke A, Sudlow C, Rothwell PM, Levi C, Holliday EG, Fornage M, Psaty B, Gretarsdottir S, Thorsteinsdottir U, Seshadri S, Mitchell BD, Kittner S, Clarke R, Hopewell JC, Bis JC, Boncoraglio GB, Meschia J, Ikram MA, Hansen BM, Montaner J, Thorleifsson G, Stefanson K, Rosand J, de Bakker PI, Farrall M, Dichgans M, Markus HS, Bevan S; GARNET Collaborative Research Group, Wellcome Trust Case Control Consortium 2, Australian Stroke Genetic Collaborative, the METASTROKE Consortium, and the International Stroke Genetics Consortium. Kilarski LL, et al. Neurology. 2014 Aug 19;83(8):678-85. doi: 10.1212/WNL.0000000000000707. Epub 2014 Jul 16. Neurology. 2014. PMID: 25031287 Free PMC article.
18 results