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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: wider c. 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: wider c. Neurology. 2012 Aug 7;79(6):566-74. doi: 10.1212/WNL.0b013e318263575a. Epub 2012 Jul 25. Neurology. 2012. PMID: 22843259 Free PMC article.
CSF1R mutations link POLD and HDLS as a single disease entity.
Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R. Nicholson AM, et al. Among authors: wider c. Neurology. 2013 Mar 12;80(11):1033-40. doi: 10.1212/WNL.0b013e31828726a7. Epub 2013 Feb 13. Neurology. 2013. PMID: 23408870 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: wider c. 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.
Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease.
Nishioka K, Wider C, Vilariño-Güell C, Soto-Ortolaza AI, Lincoln SJ, Kachergus JM, Jasinska-Myga B, Ross OA, Rajput A, Robinson CA, Ferman TJ, Wszolek ZK, Dickson DW, Farrer MJ. Nishioka K, et al. Among authors: wider c. Arch Neurol. 2010 Aug;67(8):970-5. doi: 10.1001/archneurol.2010.177. Arch Neurol. 2010. PMID: 20697047 Free PMC article.
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.
Wider C, Melquist S, Hauf M, Solida A, Cobb SA, Kachergus JM, Gass J, Coon KD, Baker M, Cannon A, Stephan DA, Schorderet DF, Ghika J, Burkhard PR, Kapatos G, Hutton M, Farrer MJ, Wszolek ZK, Vingerhoets FJ. Wider C, et al. Neurology. 2008 Apr 15;70(16 Pt 2):1377-83. doi: 10.1212/01.wnl.0000275527.35752.c5. Epub 2007 Sep 5. Neurology. 2008. PMID: 17804835 Free PMC article.
69 results