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732 results

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Page 1
Aprataxin (APTX) gene mutations resembling multiple system atrophy.
Baba Y, Uitti RJ, Boylan KB, Uehara Y, Yamada T, Farrer MJ, Couchon E, Batish SD, Wszolek ZK. Baba Y, et al. Among authors: wszolek zk. Parkinsonism Relat Disord. 2007 Apr;13(3):139-42. doi: 10.1016/j.parkreldis.2006.08.010. Epub 2006 Oct 27. Parkinsonism Relat Disord. 2007. PMID: 17049295
Essential tremor: phenotypic expression in a clinical cohort.
Whaley NR, Putzke JD, Baba Y, Wszolek ZK, Uitti RJ. Whaley NR, et al. Among authors: wszolek zk. Parkinsonism Relat Disord. 2007 Aug;13(6):333-9. doi: 10.1016/j.parkreldis.2006.12.004. Epub 2007 Feb 8. Parkinsonism Relat Disord. 2007. PMID: 17291815
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.
732 results