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51 results

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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. Among authors: broderick df. 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.
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.
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: broderick df. 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.
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.
Tacik P, Guthrie KJ, Strongosky AJ, Broderick DF, Riegert-Johnson DL, Tang S, El-Khechen D, Parker AS, Ross OA, Wszolek ZK. Tacik P, et al. Among authors: broderick df. Mayo Clin Proc. 2015 Mar;90(3):366-71. doi: 10.1016/j.mayocp.2015.01.001. Epub 2015 Feb 3. Mayo Clin Proc. 2015. PMID: 25659636 Free PMC article.
Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground.
Tipton PW, Kenney-Jung D, Rush BK, Middlebrooks EH, Nascene D, Singh B, Holtan S, Ayala E, Broderick DF, Lund T, Wszolek ZK. Tipton PW, et al. Among authors: broderick df. Mov Disord. 2021 Dec;36(12):2901-2909. doi: 10.1002/mds.28734. Epub 2021 Jul 30. Mov Disord. 2021. PMID: 34329526
51 results