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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: wszolek zk. 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.
Genetic considerations in movement disorders.
Wszolek ZK, Pfeiffer RF. Wszolek ZK, et al. Curr Opin Neurol Neurosurg. 1992 Jun;5(3):324-30. Curr Opin Neurol Neurosurg. 1992. PMID: 1623259 Review.
699 results