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121 results

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Page 1
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. Among authors: van gerpen ja. Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027. Nat Genet. 2011. PMID: 22197934 Free PMC article.
MRI characteristics and scoring in HDLS due to CSF1R gene mutations.
Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Borjesson-Hanson A, Tselis A, Swerdlow RH, Miller BB, Fujioka S, Heckman MG, Uitti RJ, Josephs KA, Baker M, Andersen O, Rademakers R, Dickson DW, Broderick D, Wszolek ZK. Sundal C, et al. Among authors: van gerpen ja. Neurology. 2012 Aug 7;79(6):566-74. doi: 10.1212/WNL.0b013e318263575a. Epub 2012 Jul 25. Neurology. 2012. PMID: 22843259 Free PMC article.
Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.
Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Broderick D, Wszolek ZK. Sundal C, et al. Among authors: van gerpen ja. Parkinsonism Relat Disord. 2013 Oct;19(10):869-77. doi: 10.1016/j.parkreldis.2013.05.013. Epub 2013 Jun 17. Parkinsonism Relat Disord. 2013. PMID: 23787135 Free PMC article.
TREM2 p.R47H substitution is not associated with dementia with Lewy bodies.
Walton RL, Soto-Ortolaza AI, Murray ME, Lorenzo-Betancor O, Ogaki K, Heckman MG, Rayaprolu S, Rademakers R, Ertekin-Taner N, Uitti RJ, van Gerpen JA, Wszolek ZK, Smith GE, Kantarci K, Lowe VJ, Parisi JE, Jones DT, Savica R, Graff-Radford J, Knopman DS, Petersen RC, Graff-Radford NR, Ferman TJ, Dickson DW, Boeve BF, Ross OA, Labbé C. Walton RL, et al. Among authors: van gerpen ja. Neurol Genet. 2016 Jul 14;2(4):e85. doi: 10.1212/NXG.0000000000000085. eCollection 2016 Aug. Neurol Genet. 2016. PMID: 27458607 Free PMC article.
RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.
Hodges K, Brewer SS, Labbé C, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, van Gerpen JA, Ertekin-Taner N, Kantarci K, Lowe VJ, Parisi JE, Savica R, Graff-Radford J, Jones DT, Knopman DS, Petersen RC, Murray ME, Graff-Radford NR, Ferman TJ, Dickson DW, Wszolek ZK, Boeve BF, Ross OA, Lorenzo-Betancor O. Hodges K, et al. Among authors: van gerpen ja. Neurobiol Aging. 2016 Sep;45:107-108. doi: 10.1016/j.neurobiolaging.2016.03.021. Epub 2016 Mar 24. Neurobiol Aging. 2016. PMID: 27459931 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. Among authors: van gerpen ja. 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.
Investigating the role of FUS exonic variants in essential tremor.
Labbé C, Soto-Ortolaza AI, Rayaprolu S, Harriott AM, Strongosky AJ, Uitti RJ, Van Gerpen JA, Wszolek ZK, Ross OA. Labbé C, et al. Among authors: van gerpen ja. Parkinsonism Relat Disord. 2013 Aug;19(8):755-7. doi: 10.1016/j.parkreldis.2013.03.005. Epub 2013 Apr 16. Parkinsonism Relat Disord. 2013. PMID: 23601511 Free PMC article.
Familial progressive supranuclear palsy: a literature review.
Fujioka S, Van Gerpen JA, Uitti RJ, Dickson DW, Wszolek ZK. Fujioka S, et al. Among authors: van gerpen ja. Neurodegener Dis. 2014;13(2-3):180-2. doi: 10.1159/000354975. Epub 2013 Sep 24. Neurodegener Dis. 2014. PMID: 24080486 Review.
121 results