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Now showing items 1-3 of 3

    • Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: A case-control study 

      Ross, O. A.; Soto-Ortolaza, A. I.; Heckman, M. G.; Aasly, J. O.; Abahuni, N.; Annesi, G.; Bacon, J. A.; Bardien, S.; Bozi, M.; Brice, A.; Brighina, L.; Van Broeckhoven, C.; Carr, J.; Chartier-Harlin, M. C.; Dardiotis, E.; Dickson, D. W.; Diehl, N. N.; Elbaz, A.; Ferrarese, C.; Ferraris, A.; Fiske, B.; Gibson, J. M.; Gibson, R.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Klein, C.; Kruger, R.; Kyratzi, E.; Lesage, S.; Lin, C. H.; Lynch, T.; Maraganore, D. M.; Mellick, G. D.; Mutez, E.; Nilsson, C.; Opala, G.; Park, S. S.; Puschmann, A.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Sohn, Y. H.; Stefanis, L.; Tadic, V.; Theuns, J.; Tomiyama, H.; Uitti, R. J.; Valente, E. M.; van de Loo, S.; Vassilatis, D. K.; Vilarino-Guell, C.; White, L. R.; Wirdefeldt, K.; Wszolek, Z. K.; Wu, R. M.; Farrer, M. J. (2011)
      Background: Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of ...

    • GCH1 in early-onset Parkinson's disease 

      Cobb, S. A.; Wider, C.; Ross, O. A.; Mata, I. F.; Adler, C. H.; Rajput, A.; Rajput, A. H.; Wu, R. M.; Hauser, R.; Josephs, K. A.; Carr, J.; Gwinn, K.; Heckman, M. G.; Aasly, J. O.; Lynch, T.; Uitti, R. J.; Wszolek, Z. K.; Kapatos, G.; Farrer, M. J. (2009)
      Mutations in GTP-cyclohydrolase 1 (GCH1) cause autosomal dominant dopa-responsive dystonia (DRD), characterized by childhood-onset foot dystonia that later generalizes. DRD patients frequently present with associated ...

    • Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's Disease (GEO-PD) consortium 

      Heckman, M. G.; Soto-Ortolaza, A. I.; Aasly, J. O.; Abahuni, N.; Annesi, G.; Bacon, J. A.; Bardien, S.; Bozi, M.; Brice, A.; Brighina, L.; Carr, J.; ET. AL. (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030, 2013)