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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Among authors: peuralinna t. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 Free PMC article.
Chromosome 9 ALS and FTD locus is probably derived from a single founder.
Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chiò A, Shatunov A, Boeve BF, Boxer AL, DeJesus-Hernandez M, Mackenzie IR, Waite A, Williams N, Morris HR, Simón-Sánchez J, van Swieten JC, Heutink P, Restagno G, Mora G, Morrison KE, Shaw PJ, Rollinson PS, Al-Chalabi A, Rademakers R, Pickering-Brown S, Orrell RW, Nalls MA, Hardy J. Mok K, et al. Among authors: peuralinna t. Neurobiol Aging. 2012 Jan;33(1):209.e3-8. doi: 10.1016/j.neurobiolaging.2011.08.005. Epub 2011 Sep 16. Neurobiol Aging. 2012. PMID: 21925771 Free PMC article.
Assessment of PINK1 (PARK6) polymorphisms in Finnish PD.
Clarimón J, Eerola J, Hellström O, Peuralinna T, Tienari PJ, Singleton AB. Clarimón J, et al. Among authors: peuralinna t. Neurobiol Aging. 2006 Jun;27(6):906-7. doi: 10.1016/j.neurobiolaging.2005.03.028. Epub 2005 Jul 19. Neurobiol Aging. 2006. PMID: 16046032
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.
Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, Sulkava R, Jansson L, Hernandez DG, Gibbs JR, Nalls MA, Heckerman D, Tienari PJ, Traynor BJ. Laaksovirta H, et al. Among authors: peuralinna t. Lancet Neurol. 2010 Oct;9(10):978-85. doi: 10.1016/S1474-4422(10)70184-8. Lancet Neurol. 2010. PMID: 20801718 Free PMC article.
Homozygosity analysis in amyotrophic lateral sclerosis.
Mok K, Laaksovirta H, Tienari PJ, Peuralinna T, Myllykangas L, Chiò A, Traynor BJ, Nalls MA, Gurunlian N, Shatunov A, Restagno G, Mora G, Nigel Leigh P, Shaw CE, Morrison KE, Shaw PJ, Al-Chalabi A, Hardy J, Orrell RW. Mok K, et al. Among authors: peuralinna t. Eur J Hum Genet. 2013 Dec;21(12):1429-35. doi: 10.1038/ejhg.2013.59. Epub 2013 Apr 24. Eur J Hum Genet. 2013. PMID: 23612577 Free PMC article.
Genome-wide association study of neocortical Lewy-related pathology.
Peuralinna T, Myllykangas L, Oinas M, Nalls MA, Keage HA, Isoviita VM, Valori M, Polvikoski T, Paetau A, Sulkava R, Ince PG, Zaccai J, Brayne C, Traynor BJ, Hardy J, Singleton AB, Tienari PJ. Peuralinna T, et al. Ann Clin Transl Neurol. 2015 Sep;2(9):920-31. doi: 10.1002/acn3.231. Epub 2015 Aug 18. Ann Clin Transl Neurol. 2015. PMID: 26401513 Free PMC article.
Melatonin receptor type 1A gene linked to Alzheimer's disease in old age.
Sulkava S, Muggalla P, Sulkava R, Ollila HM, Peuralinna T, Myllykangas L, Kaivola K, Stone DJ, Traynor BJ, Renton AE, Rivera AM, Helisalmi S, Soininen H, Polvikoski T, Hiltunen M, Tienari PJ, Huttunen HJ, Paunio T. Sulkava S, et al. Among authors: peuralinna t. Sleep. 2018 Jul 1;41(7):zsy103. doi: 10.1093/sleep/zsy103. Sleep. 2018. PMID: 29982836 Free PMC article.
APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis.
Peuralinna T, Tanskanen M, Mäkelä M, Polvikoski T, Paetau A, Kalimo H, Sulkava R, Hardy J, Lai SL, Arepalli S, Hernandez D, Traynor BJ, Singleton A, Tienari PJ, Myllykangas L. Peuralinna T, et al. J Alzheimers Dis. 2011;26(2):377-85. doi: 10.3233/JAD-2011-102049. J Alzheimers Dis. 2011. PMID: 21654062 Free PMC article.
17 results