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166 results

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Page 1
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: pfeiffer rf. Hum Genet. 2010 Apr;127(4):469-70. Hum Genet. 2010. PMID: 21488296 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: pfeiffer rf. 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: pfeiffer rf. Hum Genet. 2010 Apr;127(4):469. Hum Genet. 2010. PMID: 21488277 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: pfeiffer rf. Hum Genet. 2010 Apr;127(4):470. Hum Genet. 2010. PMID: 21488297 No abstract available.
Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.
Xiao J, 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: pfeiffer rf. Hum Genet. 2010 Apr;127(4):470. Hum Genet. 2010. PMID: 21488298 No abstract available.
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: pfeiffer rf. 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.
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: pfeiffer rf. 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 rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.
Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Truong DD, Blitzer A, Rudzińska M, Momčilović D, Jinnah HA, Frei K, Pfeiffer RF, LeDoux MS. Vemula SR, et al. Among authors: pfeiffer rf. Mol Genet Genomic Med. 2014 May;2(3):261-72. doi: 10.1002/mgg3.67. Epub 2014 Feb 11. Mol Genet Genomic Med. 2014. PMID: 24936516 Free PMC article.
Levodopa-induced lateral jaw deviation dystonia.
Pfeiffer RF, LeDoux MS. Pfeiffer RF, et al. Parkinsonism Relat Disord. 2015 Jul;21(7):808. doi: 10.1016/j.parkreldis.2015.02.012. Epub 2015 Apr 25. Parkinsonism Relat Disord. 2015. PMID: 25956205 No abstract available.
Genomewide association study for susceptibility genes contributing to familial Parkinson disease.
Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH; PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories. Pankratz N, et al. Hum Genet. 2009 Jan;124(6):593-605. doi: 10.1007/s00439-008-0582-9. Epub 2008 Nov 6. Hum Genet. 2009. PMID: 18985386 Free PMC article.
166 results