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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr. Kwiatkowski TJ Jr, et al. Among authors: valdmanis p. Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066. Science. 2009. PMID: 19251627
50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.
Broom WJ, Greenway M, Sadri-Vakili G, Russ C, Auwarter KE, Glajch KE, Dupre N, Swingler RJ, Purcell S, Hayward C, Sapp PC, McKenna-Yasek D, Valdmanis PN, Bouchard JP, Meininger V, Hosler BA, Glass JD, Polack M, Rouleau GA, Cha JH, Hardiman O, Brown RH Jr. Broom WJ, et al. Amyotroph Lateral Scler. 2008 Aug;9(4):229-37. doi: 10.1080/17482960802103107. Amyotroph Lateral Scler. 2008. PMID: 18608091
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS.
Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE, Rouleau GA, Fisher EM, Shaw PJ, Morrison KE, Pamphlett R, Van den Berg LH, Figlewicz DA, Andersen PM, Al-Chalabi A, Hardiman O, Purcell S, Landers JE, Brown RH Jr. Wills AM, et al. Among authors: valdmanis pn. Neurology. 2009 Jul 7;73(1):16-24. doi: 10.1212/WNL.0b013e3181a18674. Epub 2009 Mar 25. Neurology. 2009. PMID: 19321847 Free PMC article.
Autosomal dominant primary lateral sclerosis.
Dupré N, Valdmanis PN, Bouchard JP, Rouleau GA. Dupré N, et al. Neurology. 2007 Apr 3;68(14):1156-7. doi: 10.1212/01.wnl.0000258678.58808.86. Neurology. 2007. PMID: 17404201 No abstract available.
65 results