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A novel de novo pathogenic mutation in the CACNA1A gene.
Fujioka S, Rayaprolu S, Sundal C, Broderick DF, Langley WA, Shoffner J, Hyams LC, Rademakers R, Graff-Radford NR, Tatum W, Ross OA, Wszolek ZK. Fujioka S, et al. Mov Disord. 2012 Oct;27(12):1578-9. doi: 10.1002/mds.25198. Epub 2012 Oct 4. Mov Disord. 2012. PMID: 23038654 Free PMC article. No abstract available.
LRRK2 variation and Parkinson's disease in African Americans.
Ross OA, Wilhoite GJ, Bacon JA, Soto-Ortolaza A, Kachergus J, Cobb SA, Puschmann A, Vilariño-Güell C, Farrer MJ, Graff-Radford N, Meschia JF, Wszolek ZK. Ross OA, et al. Mov Disord. 2010 Sep 15;25(12):1973-6. doi: 10.1002/mds.23163. Mov Disord. 2010. PMID: 20669299 Free PMC article.
Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis.
Rutherford NJ, Finch NA, DeJesus-Hernandez M, Crook RJ, Lomen-Hoerth C, Wszolek ZK, Uitti RJ, Graff-Radford NR, Rademakers R. Rutherford NJ, et al. Neurobiol Aging. 2012 Feb;33(2):424.e23-4. doi: 10.1016/j.neurobiolaging.2010.09.029. Epub 2010 Nov 12. Neurobiol Aging. 2012. PMID: 21074900 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.
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK. Rademakers R, et al. Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027. Nat Genet. 2011. PMID: 22197934 Free PMC article.
704 results