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717 results

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Page 1
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.
Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzińska M, Frei KP, Truong DD, Wszolek ZK, LeDoux MS. Vemula SR, et al. Among authors: wszolek zk. Hum Mol Genet. 2013 Jun 15;22(12):2510-9. doi: 10.1093/hmg/ddt102. Epub 2013 Feb 27. Hum Mol Genet. 2013. PMID: 23449625 Free PMC article.
High-throughput mutational analysis of TOR1A in primary dystonia.
Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, Zhao Y, LeDoux MS. Xiao J, et al. Among authors: wszolek zk. BMC Med Genet. 2009 Mar 11;10:24. doi: 10.1186/1471-2350-10-24. BMC Med Genet. 2009. PMID: 19284587 Free PMC article.
A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.
Puschmann A, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA, Lindquist SG, Nielsen JE, Wszolek ZK, Farrer M, Widner H, van Westen D, Hägerström D, Markopoulou K, Chase BA, Nilsson K, Reimer J, Nilsson C. Puschmann A, et al. Among authors: wszolek zk. Parkinsonism Relat Disord. 2009 Nov;15(9):627-32. doi: 10.1016/j.parkreldis.2009.06.007. Epub 2009 Jul 25. Parkinsonism Relat Disord. 2009. PMID: 19632874 Free PMC article.
Novel THAP1 sequence variants in primary dystonia.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS. Xiao J, et al. Among authors: wszolek zk. Neurology. 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca. Neurology. 2010. PMID: 20083799 Free PMC article.
Adult-onset leg dystonia due to a missense mutation in THAP1.
Van Gerpen JA, Ledoux MS, Wszolek ZK. Van Gerpen JA, et al. Among authors: wszolek zk. Mov Disord. 2010 Jul 15;25(9):1306-7. doi: 10.1002/mds.23086. Mov Disord. 2010. PMID: 20629133 Free PMC article. No abstract available.
Diagnosis and treatment of common forms of tremor.
Puschmann A, Wszolek ZK. Puschmann A, et al. Among authors: wszolek zk. Semin Neurol. 2011 Feb;31(1):65-77. doi: 10.1055/s-0031-1271312. Epub 2011 Feb 14. Semin Neurol. 2011. PMID: 21321834 Free PMC article. Review.
The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Blitzer A, Rudzińska M, Pfeiffer RF, Le C, LeDoux MS. Xiao J, et al. Among authors: wszolek zk. Mov Disord. 2011 Feb 15;26(3):549-52. doi: 10.1002/mds.23551. Epub 2011 Mar 2. Mov Disord. 2011. PMID: 21370264 Free PMC article.
Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS. Xiao J, et al. Among authors: wszolek zk. Hum Genet. 2010 Apr;127(4):470. Hum Genet. 2010. PMID: 21488252 No abstract available.
Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS. Xiao J, et al. Among authors: wszolek zk. Hum Genet. 2010 Apr;127(4):469. Hum Genet. 2010. PMID: 21488277 No abstract available.
717 results