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Year Number of Results
2009 3
2010 5
2011 7
2012 9
2013 5
2014 3
2015 1
2017 1
2021 0
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28 results
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R. DeJesus-Hernandez M, et al. Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944778 Free PMC article.
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia.
Mackenzie IR, Rademakers R, Neumann M. Mackenzie IR, et al. Lancet Neurol. 2010 Oct;9(10):995-1007. doi: 10.1016/S1474-4422(10)70195-2. Lancet Neurol. 2010. PMID: 20864052 Review.
Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects.
Halliday G, Bigio EH, Cairns NJ, Neumann M, Mackenzie IR, Mann DM. Halliday G, et al. Acta Neuropathol. 2012 Sep;124(3):373-82. doi: 10.1007/s00401-012-1030-4. Epub 2012 Aug 10. Acta Neuropathol. 2012. PMID: 22878865 Free PMC article. Review.
The neuropathology associated with repeat expansions in the C9ORF72 gene.
Mackenzie IR, Frick P, Neumann M. Mackenzie IR, et al. Acta Neuropathol. 2014 Mar;127(3):347-57. doi: 10.1007/s00401-013-1232-4. Epub 2013 Dec 20. Acta Neuropathol. 2014. PMID: 24356984 Review.
Advances in understanding the molecular basis of frontotemporal dementia.
Rademakers R, Neumann M, Mackenzie IR. Rademakers R, et al. Nat Rev Neurol. 2012 Aug;8(8):423-34. doi: 10.1038/nrneurol.2012.117. Epub 2012 Jun 26. Nat Rev Neurol. 2012. PMID: 22732773 Free PMC article. Review.
Ataxin-2 repeat-length variation and neurodegeneration.
Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Woodruff BK, Knopman DS, White CL 3rd, Van Gerpen JA, Meschia JF, Mackenzie IR, Boylan K, Boeve BF, Miller BL, Strong MJ, Uitti RJ, Younkin SG, Graff-Radford NR, Petersen RC, Wszolek ZK, Dickson DW, Rademakers R. Ross OA, et al. Hum Mol Genet. 2011 Aug 15;20(16):3207-12. doi: 10.1093/hmg/ddr227. Epub 2011 May 24. Hum Mol Genet. 2011. PMID: 21610160 Free PMC article.
Clinical and neuropathological features of ALS/FTD with TIA1 mutations.
Hirsch-Reinshagen V, Pottier C, Nicholson AM, Baker M, Hsiung GR, Krieger C, Sengdy P, Boylan KB, Dickson DW, Mesulam M, Weintraub S, Bigio E, Zinman L, Keith J, Rogaeva E, Zivkovic SA, Lacomis D, Taylor JP, Rademakers R, Mackenzie IRA. Hirsch-Reinshagen V, et al. Acta Neuropathol Commun. 2017 Dec 7;5(1):96. doi: 10.1186/s40478-017-0493-x. Acta Neuropathol Commun. 2017. PMID: 29216908 Free PMC article.
FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis.
Mackenzie IR, Neumann M. Mackenzie IR, et al. Brain Res. 2012 Jun 26;1462:40-3. doi: 10.1016/j.brainres.2011.12.010. Epub 2011 Dec 13. Brain Res. 2012. PMID: 22261247 Review.
Distinct pathological subtypes of FTLD-FUS.
Mackenzie IR, Munoz DG, Kusaka H, Yokota O, Ishihara K, Roeber S, Kretzschmar HA, Cairns NJ, Neumann M. Mackenzie IR, et al. Acta Neuropathol. 2011 Feb;121(2):207-18. doi: 10.1007/s00401-010-0764-0. Epub 2010 Oct 30. Acta Neuropathol. 2011. PMID: 21052700
Synaptic dysfunction in progranulin-deficient mice.
Petkau TL, Neal SJ, Milnerwood A, Mew A, Hill AM, Orban P, Gregg J, Lu G, Feldman HH, Mackenzie IR, Raymond LA, Leavitt BR. Petkau TL, et al. Neurobiol Dis. 2012 Feb;45(2):711-22. doi: 10.1016/j.nbd.2011.10.016. Epub 2011 Oct 25. Neurobiol Dis. 2012. PMID: 22062772
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