• Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease 

      Maraganore, D. M.; de Andrade, M.; Elbaz, A.; Farrer, M. J.; Ioannidis, J. P. A.; Kruger, R.; Rocca, W. A.; Schneider, N. K.; Lesnick, T. G.; Lincoln, S. J.; Hulihan, M. M.; Aasly, J. O.; Ashizawa, T.; Chartier-Harlin, M. C.; Checkoway, H.; Ferrarese, C.; Hadjigeorgiou, G.; Hattori, N.; Kawakami, H.; Lambert, J. C.; Lynch, T.; Mellick, G. D.; Papapetropoulos, S.; Parsian, A.; Quattrone, A.; Riess, O.; Tan, E. K.; Van Broeckhoven, C.; Consortium, Geo-Pd (2006)
      Context Identification and replication of susceptibility genes for Parkinson disease at the population level have been hampered by small studies with potential biases. alpha-Synuclein (SNCA) has been one of the most promising ...
    • 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), ...