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Year Number of Results
2009 1
2010 3
2011 4
2012 5
2013 2
2019 1
2022 0
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15 results
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Page 1
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.
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.
rs5848 polymorphism and serum progranulin level.
Hsiung GY, Fok A, Feldman HH, Rademakers R, Mackenzie IR. Hsiung GY, et al. J Neurol Sci. 2011 Jan 15;300(1-2):28-32. doi: 10.1016/j.jns.2010.10.009. Epub 2010 Nov 2. J Neurol Sci. 2011. PMID: 21047645 Free PMC article.
Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS.
Ravenscroft TA, Baker MC, Rutherford NJ, Neumann M, Mackenzie IR, Josephs KA, Boeve BF, Petersen R, Halliday GM, Kril J, van Swieten JC, Seeley WW, Dickson DW, Rademakers R. Ravenscroft TA, et al. Neurobiol Aging. 2013 Sep;34(9):2235.e11-3. doi: 10.1016/j.neurobiolaging.2013.04.004. Epub 2013 Apr 28. Neurobiol Aging. 2013. PMID: 23635657 Free PMC article.
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.
Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Knopman DS, Kretzschmar HA, Neumann M, Caselli RJ, White CL 3rd, Mackenzie IR, Petersen RC, Strong MJ, Miller BL, Boeve BF, Uitti RJ, Boylan KB, Wszolek ZK, Graff-Radford NR, Dickson DW, Ross OA, Rademakers R. Rutherford NJ, et al. Neurobiol Aging. 2012 Dec;33(12):2950.e5-7. doi: 10.1016/j.neurobiolaging.2012.07.005. Epub 2012 Jul 26. Neurobiol Aging. 2012. PMID: 22840558 Free PMC article.
Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis.
Hirsch-Reinshagen V, Alfaify OA, Hsiung GR, Pottier C, Baker M, Perkerson RB 3rd, Rademakers R, Briemberg H, Foti DJ, Mackenzie IR. Hirsch-Reinshagen V, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(7-8):568-575. doi: 10.1080/21678421.2019.1632347. Epub 2019 Jun 27. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 31244341 Free PMC article.
Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis.
Rademakers R, Stewart H, Dejesus-Hernandez M, Krieger C, Graff-Radford N, Fabros M, Briemberg H, Cashman N, Eisen A, Mackenzie IR. Rademakers R, et al. Muscle Nerve. 2010 Aug;42(2):170-6. doi: 10.1002/mus.21665. Muscle Nerve. 2010. PMID: 20544928 Free PMC article.
15 results