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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: ikonen e. 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.
Cellular pathology of Niemann-Pick type C disease.
Ikonen E, Hölttä-Vuori M. Ikonen E, et al. Semin Cell Dev Biol. 2004 Aug;15(4):445-54. doi: 10.1016/j.semcdb.2004.03.001. Semin Cell Dev Biol. 2004. PMID: 15207834 Review.
MLN64 is involved in actin-mediated dynamics of late endocytic organelles.
Hölttä-Vuori M, Alpy F, Tanhuanpää K, Jokitalo E, Mutka AL, Ikonen E. Hölttä-Vuori M, et al. Among authors: ikonen e. Mol Biol Cell. 2005 Aug;16(8):3873-86. doi: 10.1091/mbc.e04-12-1105. Epub 2005 Jun 1. Mol Biol Cell. 2005. PMID: 15930133 Free PMC article.
Zebrafish: gaining popularity in lipid research.
Hölttä-Vuori M, Salo VT, Nyberg L, Brackmann C, Enejder A, Panula P, Ikonen E. Hölttä-Vuori M, et al. Among authors: ikonen e. Biochem J. 2010 Jul 15;429(2):235-42. doi: 10.1042/BJ20100293. Biochem J. 2010. PMID: 20578994 Review.
261 results