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  • THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations 

    Xiromerisiou, G.; Houlden, H.; Scarmeas, N.; Stamelou, M.; Kara, E.; Hardy, J.; Lees, A. J.; Korlipara, P.; Limousin, P.; Paudel, R.; Hadjigeorgiou, G. M.; Bhatia, K. P. (2012)
    THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been ...