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Browsing by Subject "PARKINSONISM"

Now showing items 1-3 of 3

    • How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease 

      Cookson, M. R.; Xiromerisiou, G.; Singleton, A. (2005)
      Purpose of review Rapid progress in genetics has meant that there are now five genes identified for 'Parkinson's disease'. The detailed phenotypes vary, but generally the dominant genes cause a Lewy body disease spectrum ...

    • Novel Twinkle (PE01) gene mutations in mendelian progressive external ophthalmoplegia 

      Virgilio, R.; Ronchi, D.; Hadjigeorgiou, G. M.; Bordoni, A.; Saladino, F.; Moggio, M.; Adobbati, L.; Kafetsouli, D.; Tsironi, E.; Previtali, S.; Papadimitriou, A.; Bresolin, N.; Comi, G. P. (2008)
      Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved ...

    • 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 ...