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No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.
Baradaran-Heravi Y, Dillen L, Nguyen HP, Van Mossevelde S, Baets J, De Jonghe P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenberghe R, Van Damme P, Cras P, Salmon E, Synofzik M, Heutink P, Wilke C, Simon-Sanchez J, Rojas-Garcia R, Turon-Sans J, Lleó A, Illán-Gala I, Clarimón J, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, Gelpi E, Sanchez-Valle R, Borrego-Ecija S, Matej R, Parobkova E, Nacmias B, Sorbi S, Bagnoli S, de Mendonça A, Ferreira C, Fraidakis MJ, Diehl-Schmid J, Alexopoulos P, Almeida MR, Santana I, Van Broeckhoven C, van der Zee J; BELNEU Consortium; EU EOD Consortium. Baradaran-Heravi Y, et al. Neurobiol Aging. 2018 Sep;69:293.e9-293.e11. doi: 10.1016/j.neurobiolaging.2018.05.005. Epub 2018 May 23. Neurobiol Aging. 2018. PMID: 29886022 Free 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. 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.
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. 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.
A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.
Hanagasi HA, Giri A, Kartal E, Guven G, Bilgiç B, Hauser AK, Emre M, Heutink P, Basak N, Gasser T, Simón-Sánchez J, Lohmann E. Hanagasi HA, et al. Parkinsonism Relat Disord. 2016 Aug;29:117-20. doi: 10.1016/j.parkreldis.2016.03.001. Epub 2016 Mar 3. Parkinsonism Relat Disord. 2016. PMID: 26972524
C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.
Rizzu P, Blauwendraat C, Heetveld S, Lynes EM, Castillo-Lizardo M, Dhingra A, Pyz E, Hobert M, Synofzik M, Simón-Sánchez J, Francescatto M, Heutink P. Rizzu P, et al. Acta Neuropathol Commun. 2016 Apr 14;4(1):37. doi: 10.1186/s40478-016-0306-7. Acta Neuropathol Commun. 2016. PMID: 27079381 Free PMC article.
Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.
Giri A, Mok KY, Jansen I, Sharma M, Tesson C, Mangone G, Lesage S, Bras JM, Shulman JM, Sheerin UM; International Parkinson's Disease Consortium (IPDGC); Díez-Fairen M, Pastor P, Martí MJ, Ezquerra M, Tolosa E, Correia-Guedes L, Ferreira J, Amin N, van Duijn CM, van Rooij J, Uitterlinden AG, Kraaij R, Nalls M, Simón-Sánchez J. Giri A, et al. Neurobiol Aging. 2017 Feb;50:167.e11-167.e13. doi: 10.1016/j.neurobiolaging.2016.10.004. Epub 2016 Oct 11. Neurobiol Aging. 2017. PMID: 27818000 Free PMC article.
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