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Page 1
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. Among authors: arepalli s. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study.
Myllykangas L, Wavrant-De Vrièze F, Polvikoski T, Notkola IL, Sulkava R, Niinistö L, Edland SD, Arepalli S, Adighibe O, Compton D, Hardy J, Haltia M, Tienari PJ. Myllykangas L, et al. Among authors: arepalli s. J Neurol Sci. 2005 Sep 15;236(1-2):17-24. doi: 10.1016/j.jns.2005.04.008. J Neurol Sci. 2005. PMID: 16023140
IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations.
Worrall BB, Brott TG, Brown RD Jr, Brown WM, Rich SS, Arepalli S, Wavrant-De Vrièze F, Duckworth J, Singleton AB, Hardy J, Meschia JF; SWISS, ISGS, and MSGD Investigators. Worrall BB, et al. Among authors: arepalli s. Stroke. 2007 Apr;38(4):1189-96. doi: 10.1161/01.STR.0000260099.42744.b0. Epub 2007 Mar 1. Stroke. 2007. PMID: 17332449 Free PMC article.
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chiò A, Singleton A, Hardy J, Traynor BJ. Schymick JC, et al. Among authors: arepalli s. Lancet Neurol. 2007 Apr;6(4):322-8. doi: 10.1016/S1474-4422(07)70037-6. Lancet Neurol. 2007. PMID: 17362836
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. Among authors: arepalli s. PLoS Genet. 2008 May 9;4(5):e1000072. doi: 10.1371/journal.pgen.1000072. PLoS Genet. 2008. PMID: 18464913 Free PMC article.
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ. Chiò A, et al. Among authors: arepalli s. Hum Mol Genet. 2009 Apr 15;18(8):1524-32. doi: 10.1093/hmg/ddp059. Epub 2009 Feb 4. Hum Mol Genet. 2009. PMID: 19193627 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: arepalli s. Ann Neurol. 2009 May;65(5):610-4. doi: 10.1002/ana.21685. Ann Neurol. 2009. PMID: 19475667 Free PMC article.
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T. Simón-Sánchez J, et al. Among authors: arepalli s. Nat Genet. 2009 Dec;41(12):1308-12. doi: 10.1038/ng.487. Epub 2009 Nov 15. Nat Genet. 2009. PMID: 19915575 Free PMC article.
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.
Gibbs JR, van der Brug MP, Hernandez DG, Traynor BJ, Nalls MA, Lai SL, Arepalli S, Dillman A, Rafferty IP, Troncoso J, Johnson R, Zielke HR, Ferrucci L, Longo DL, Cookson MR, Singleton AB. Gibbs JR, et al. Among authors: arepalli s. PLoS Genet. 2010 May 13;6(5):e1000952. doi: 10.1371/journal.pgen.1000952. PLoS Genet. 2010. PMID: 20485568 Free PMC article.
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.
Traynor BJ, Nalls M, Lai SL, Gibbs RJ, Schymick JC, Arepalli S, Hernandez D, van der Brug MP, Johnson JO, Dillman A, Cookson M, Moglia C, Calvo A, Restagno G, Mora G, Chiò A. Traynor BJ, et al. Among authors: arepalli s. Proc Natl Acad Sci U S A. 2010 Jul 6;107(27):12335-8. doi: 10.1073/pnas.0914079107. Epub 2010 Jun 21. Proc Natl Acad Sci U S A. 2010. PMID: 20566859 Free PMC article.
169 results