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428 results

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Page 1
Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.
Krohn L, Wu RYJ, Heilbron K, Ruskey JA, Laurent SB, Blauwendraat C, Alam A, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Toft M, Bjørnarå KA, Stefani A, Holzknecht E, Monaca CC, Abril B, Plazzi G, Antelmi E, Ferini-Strambi L, Young P, Heidbreder A, Cochen De Cock V, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Nalls MA, Singleton AB; 23andMe Research Team; Desautels A, Montplaisir JY, Cannon P, Ross OA, Boeve BF, Dupré N, Fon EA, Postuma RB, Pihlstrøm L, Rouleau GA, Gan-Or Z. Krohn L, et al. Among authors: singleton ab. Ann Neurol. 2020 Apr;87(4):584-598. doi: 10.1002/ana.25687. Epub 2020 Feb 12. Ann Neurol. 2020. PMID: 31976583 Free PMC article.
SNCA variants are associated with increased risk for multiple system atrophy.
Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T. Scholz SW, et al. Among authors: singleton ab. Ann Neurol. 2009 May;65(5):610-4. doi: 10.1002/ana.21685. Ann Neurol. 2009. PMID: 19475667 Free PMC article.
Genetic variability at the PARK16 locus.
Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisán-Ruiz C. Tucci A, et al. Among authors: singleton ab. Eur J Hum Genet. 2010 Dec;18(12):1356-9. doi: 10.1038/ejhg.2010.125. Epub 2010 Aug 4. Eur J Hum Genet. 2010. PMID: 20683486 Free PMC article.
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Among authors: singleton ab. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.
Does trans size matter in Huntington disease?
Ross OA, Singleton AB. Ross OA, et al. Among authors: singleton ab. Neurology. 2012 Mar 6;78(10):686-7. doi: 10.1212/WNL.0b013e3182494d77. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323751 No abstract available.
Molecular genetic overlap in bipolar disorder, schizophrenia, and major depressive disorder.
Schulze TG, Akula N, Breuer R, Steele J, Nalls MA, Singleton AB, Degenhardt FA, Nöthen MM, Cichon S, Rietschel M; Bipolar Genome Study; McMahon FJ. Schulze TG, et al. Among authors: singleton ab. World J Biol Psychiatry. 2014 Apr;15(3):200-8. doi: 10.3109/15622975.2012.662282. Epub 2012 Mar 9. World J Biol Psychiatry. 2014. PMID: 22404658 Free PMC article.
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.
Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, Gibbs JR, Ryten M, Arepalli S, Weale ME, Zonderman AB, Troncoso J, O'Brien R, Walker R, Smith C, Bandinelli S, Traynor BJ, Hardy J, Singleton AB, Cookson MR. Hernandez DG, et al. Among authors: singleton ab. Neurobiol Dis. 2012 Jul;47(1):20-8. doi: 10.1016/j.nbd.2012.03.020. Epub 2012 Mar 12. Neurobiol Dis. 2012. PMID: 22433082 Free PMC article.
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC; French Parkinson's Disease Genetics Study Group; International Parkinson's Disease Genomics Consortium (IPDGC). Klebe S, et al. Among authors: singleton ab. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):666-73. doi: 10.1136/jnnp-2012-304475. Epub 2013 Feb 13. J Neurol Neurosurg Psychiatry. 2013. PMID: 23408064 Free PMC article.
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DM, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin UM, Bras J, Hardy J, Clark L, Marder K, Honig LS, Berg D, Maetzler W, Brockmann K, Gasser T, Novellino F, Quattrone A, Annesi G, De Marco EV, Rogaeva E, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, Nichols WC, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson BI, Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, Singleton AB, Wolfsberg TG, Sidransky E. Nalls MA, et al. Among authors: singleton ab. JAMA Neurol. 2013 Jun;70(6):727-35. doi: 10.1001/jamaneurol.2013.1925. JAMA Neurol. 2013. PMID: 23588557 Free PMC article. Clinical Trial.
428 results