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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: isoviita vm. 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.
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. Among authors: isoviita vm. 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.
HRD related signature 3 predicts clinical outcome in advanced tubo-ovarian high-grade serous carcinoma.
Koskela H, Li Y, Joutsiniemi T, Muranen T, Isoviita VM, Huhtinen K, Micoli G, Lavikka K, Marchi G, Hietanen S, Virtanen A, Hautaniemi S, Oikkonen J, Hynninen J. Koskela H, et al. Among authors: isoviita vm. Gynecol Oncol. 2024 Jan;180:91-98. doi: 10.1016/j.ygyno.2023.11.027. Epub 2023 Dec 6. Gynecol Oncol. 2024. PMID: 38061276 Free article. Clinical Trial.
Evolutionary states and trajectories characterized by distinct pathways stratify patients with ovarian high grade serous carcinoma.
Lahtinen A, Lavikka K, Virtanen A, Li Y, Jamalzadeh S, Skorda A, Lauridsen AR, Zhang K, Marchi G, Isoviita VM, Ariotta V, Lehtonen O, Muranen TA, Huhtinen K, Carpén O, Hietanen S, Senkowski W, Kallunki T, Häkkinen A, Hynninen J, Oikkonen J, Hautaniemi S. Lahtinen A, et al. Among authors: isoviita vm. Cancer Cell. 2023 Jun 12;41(6):1103-1117.e12. doi: 10.1016/j.ccell.2023.04.017. Epub 2023 May 18. Cancer Cell. 2023. PMID: 37207655 Free article.