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911 results

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Page 1
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.
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: fujioka s. 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: fujioka s. 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.
Autosomal dominant Parkinson's disease.
Sundal C, Fujioka S, Uitti RJ, Wszolek ZK. Sundal C, et al. Among authors: fujioka s. 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.
TARDBP mutations in Parkinson's disease.
Rayaprolu S, Fujioka S, Traynor S, Soto-Ortolaza AI, Petrucelli L, Dickson DW, Rademakers R, Boylan KB, Graff-Radford NR, Uitti RJ, Wszolek ZK, Ross OA. Rayaprolu S, et al. Among authors: fujioka s. Parkinsonism Relat Disord. 2013 Mar;19(3):312-5. doi: 10.1016/j.parkreldis.2012.11.003. Epub 2012 Dec 8. Parkinsonism Relat Disord. 2013. PMID: 23231971 Free PMC article.
Multiple system atrophy and apolipoprotein E.
Ogaki K, Martens YA, Heckman MG, Koga S, Labbé C, Lorenzo-Betancor O, Wernick AI, Walton RL, Soto AI, Vargas ER, Nielsen HM, Fujioka S, Kanekiyo T, Uitti RJ, van Gerpen JA, Cheshire WP, Wszolek ZK, Low PA, Singer W, Dickson DW, Bu G, Ross OA. Ogaki K, et al. Among authors: fujioka s. Mov Disord. 2018 Apr;33(4):647-650. doi: 10.1002/mds.27297. Epub 2018 Feb 14. Mov Disord. 2018. PMID: 29442376 Free PMC article.
Update on genetics of parkinsonism.
Fujioka S, Wszolek ZK. Fujioka S, et al. Neurodegener Dis. 2012;10(1-4):257-60. doi: 10.1159/000334285. Epub 2012 Jan 17. Neurodegener Dis. 2012. PMID: 22261420 Free PMC article. Review.
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