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Πλοήγηση ανά Θέμα "AUTOSOMAL-DOMINANT"

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    • Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease 

      Golbe, L. I.; Di Iorio, G.; Markopoulou, K.; Athanassiadou, A.; Papapetropoulos, S.; Watts, R. L.; Vance, J. M.; Bonifati, V.; Williams, T. A.; Spychala, J. R.; Stenroos, E. S.; Johnson, W. G. (2007)
      Monogenic forms of Parkinson's disease (PD) provide an opportunity to examine mechanisms underlying phenotypic variation. Glutathione S-transferase (GST) has detoxification and antioxidative functions. To screen genetic ...

    • A Swedish family with de novo alpha-synuclein A53T mutation: Evidence for early cortical dysfunction 

      Puschmann, A.; Ross, O. A.; Vilarino-Guell, C.; Lincoln, S. J.; Kachergus, J. M.; Cobb, S. A.; Lindquist, S. G.; Nielsen, J. E.; Wszolek, Z. K.; Farrer, M.; Widner, H.; van Westen, D.; Hagerstrom, D.; Markopoulou, K.; Chase, B. A.; Nilsson, K.; Reimer, J.; Nilsson, C. (2009)
      A de novo alpha-symaclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), ...