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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: ledoux ms. 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.
Caytaxin deficiency causes generalized dystonia in rats.
Xiao J, Ledoux MS. Xiao J, et al. Among authors: ledoux ms. Brain Res Mol Brain Res. 2005 Nov 30;141(2):181-92. doi: 10.1016/j.molbrainres.2005.09.009. Epub 2005 Oct 24. Brain Res Mol Brain Res. 2005. PMID: 16246457
165 results