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Autosomal dominant Parkinson's disease.
Sundal C, Fujioka S, Uitti RJ, Wszolek ZK. Sundal C, et al. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S7-10. doi: 10.1016/S1353-8020(11)70005-0. Parkinsonism Relat Disord. 2012. PMID: 22166459 Review.
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. 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.
An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders.
Fujioka S, Broderick DF, Sundal C, Baker MC, Rademakers R, Wszolek ZK. Fujioka S, et al. Among authors: sundal c. J Neurol. 2013 Oct;260(10):2665-8. doi: 10.1007/s00415-013-7093-x. Epub 2013 Sep 14. J Neurol. 2013. PMID: 24036850 Free PMC article. Review. No abstract available.
Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia.
Fujioka S, Sundal C, Strongosky AJ, Castanedes MC, Rademakers R, Ross OA, Vilariño-Güell C, Farrer MJ, Wszolek ZK, Dickson DW. Fujioka S, et al. Acta Neuropathol. 2013 Mar;125(3):425-38. doi: 10.1007/s00401-012-1059-4. Epub 2012 Nov 4. Acta Neuropathol. 2013. PMID: 23124435 Free PMC article.
One family carried an EIF4G1 double variant, c.2056G>T (p.G686C) and c.3589C>T (p.R1197 W), and one family carried variant c.1505C>T (p.A502V). ...
One family carried an EIF4G1 double variant, c.2056G>T (p.G686C) and c.3589C>T (p.R1197 W), and one family carried varia …
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. Neurology. 2012 Aug 7;79(6):566-74. doi: 10.1212/WNL.0b013e318263575a. Epub 2012 Jul 25. Neurology. 2012. PMID: 22843259 Free PMC article.
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.
Sundal C, Lash J, Aasly J, Øygarden S, Roeber S, Kretzschman H, Garbern JY, Tselis A, Rademakers R, Dickson DW, Broderick D, Wszolek ZK. Sundal C, et al. J Neurol Sci. 2012 Mar 15;314(1-2):130-7. doi: 10.1016/j.jns.2011.10.006. Epub 2011 Nov 1. J Neurol Sci. 2012. PMID: 22050953 Free PMC article.
Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.
Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O. Sundal C, et al. Eur J Neurol. 2015 Feb;22(2):328-333. doi: 10.1111/ene.12572. Epub 2014 Oct 13. Eur J Neurol. 2015. PMID: 25311247 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.
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