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Sfoglia per Soggetto "THAP1"

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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 ...

    • THAP1 mutations in a Greek primary blepharospasm series 

      Xiromerisiou, G.; Dardiotis, E.; Tsironi, E. E.; Hadjigeorgiou, G.; Ralli, S.; Kara, E.; Petalas, A.; Tachmitzi, S.; Hardy, J.; Houlden, H. (2013)