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A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes.
Menden K, Francescatto M, Nyima T, Blauwendraat C, Dhingra A, Castillo-Lizardo M, Fernandes N, Kaurani L, Kronenberg-Versteeg D, Atasu B, Sadikoglou E, Borroni B, Rodriguez-Nieto S, Simon-Sanchez J, Fischer A, Craig DW, Neumann M, Bonn S, Rizzu P, Heutink P. Menden K, et al. Among authors: simon sanchez j. Sci Data. 2023 Dec 1;10(1):849. doi: 10.1038/s41597-023-02598-x. Sci Data. 2023. PMID: 38040703 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. Ann Neurol. 2009 May;65(5):610-4. doi: 10.1002/ana.21685. Ann Neurol. 2009. PMID: 19475667 Free PMC article.
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N, Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB, Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI, Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM, Singleton A, Ferrucci L. Melzer D, et al. PLoS Genet. 2008 May 9;4(5):e1000072. doi: 10.1371/journal.pgen.1000072. PLoS Genet. 2008. PMID: 18464913 Free PMC article.
Genotype, haplotype and copy-number variation in worldwide human populations.
Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB. Jakobsson M, et al. Nature. 2008 Feb 21;451(7181):998-1003. doi: 10.1038/nature06742. Nature. 2008. PMID: 18288195 Free article.
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