Now showing items 1-8 of 8

  • 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.; Genetic Epidemiology Parkinson's, D. (2011)
    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 Parkinson's ...
  • Clinical trials in restless legs syndrome - Recommendations of the European RLS study group (EURLSSG) 

    Trenkwalder, C.; Kohnen, R.; Allen, R. P.; Benes, H.; Ferini-Strambi, L.; Garcia-Borreguero, D.; Hadjigeorgiou, G. M.; Happe, S.; Hogl, B.; Hornyak, M.; Klein, C.; Nass, A.; Montagna, P.; Oertel, W. H.; O'Keeffe, S.; Paulus, W.; Poewe, W.; Provini, F.; Pramstaller, P. P.; Sieminski, M.; Sonka, K.; Stiasny-Kolster, K.; de Weerd, A.; Wetter, T. C.; Winkelmann, J.; Zucconi, M. (2007)
    The European Restless Leas Syndrome (RLS) Study Group (EURLSSG) is an association of European RLS experts who are actively involved in RLS research. A major aim of the Study Group is the development and continuous improvement ...
  • Family-based association study of the loci 2 and 3 in a European restless legs syndrome population 

    Kemlink, D.; Polo, O.; Montagna, P.; Provini, F.; Stiasny-Kolster, K.; Oertel, W.; de Weerd, A.; Nevsimalova, S.; Sonka, K.; Hogl, B.; Frauscher, B.; Poewe, W.; Trenkwalder, C.; Pramstaller, P. P.; Ferini-Strambi, L.; Zucconi, M.; Konofal, E.; Arnulf, I.; Hadjigeorgiou, G. M.; Happe, S.; Klein, C.; Hiller, A.; Lichtner, P.; Meitinger, T.; Muller-Myshok, B.; Winkelmann, J. (2007)
    Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS 1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different ...
  • Genetics of restless legs syndrome (RLS): State-of-the-art and future directions 

    Winkelmann, J.; Polo, O.; Provini, F.; Nevsimalova, S.; Kemlink, D.; Sonka, K.; Hogl, B.; Poewe, W.; Stiasny-Kolster, K.; Oertel, W.; de Weerd, A.; Strambi, L. F.; Zucconi, M.; Pramstaller, P. P.; Arnulf, I.; Trenkwalder, C.; Klein, C.; Hadjigeorgiou, G. M.; Happe, S.; Rye, D.; Montagna, P. (2007)
    Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no ...
  • Independent and joint effects of the MAPT and SNCA genes in Parkinson disease 

    Elbaz, A.; Ross, O. A.; Ioannidis, J. P. A.; Soto-Ortolaza, A. I.; Moisan, F.; Aasly, J.; Annesi, G.; Bozi, M.; Brighina, L.; Chartier-Harlin, M. C.; Destée, A.; Ferrarese, C.; Ferraris, A.; Gibson, J. M.; Gispert, S.; Hadjigeorgiou, G. M.; Jasinska-Myga, B.; Klein, C.; Krüger, R.; Lambert, J. C.; Lohmann, K.; Van De Loo, S.; Loriot, M. A.; Lynch, T.; Mellick, G. D.; Mutez, E.; Nilsson, C.; Opala, G.; Puschmann, A.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Stefanis, L.; Uitti, R. J.; Valente, E. M.; Vilariño-Güell, C.; Wirdefeldt, K.; Wszolek, Z. K.; Xiromerisiou, G.; Maraganore, D. M.; Farrer, M. J. (2011)
    Objective: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual ...
  • A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease 

    Krüger, R.; Sharma, M.; Riess, O.; Gasser, T.; Van Broeckhoven, C.; Theuns, J.; Aasly, J.; Annesi, G.; Bentivoglio, A. R.; Brice, A.; Djarmati, A.; Elbaz, A.; Farrer, M.; Ferrarese, C.; Gibson, J. M.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Jasinska-Myga, B.; Klein, C.; Lambert, J. C.; Lesage, S.; Lin, J. J.; Lynch, T.; Mellick, G. D.; de Nigris, F.; Opala, G.; Prigione, A.; Quattrone, A.; Ross, O. A.; Satake, W.; Silburn, P. A.; Tan, E. K.; Toda, T.; Tomiyama, H.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Maraganore, D. M. (2011)
    High-profile studies have provided conflicting results regarding the involvement of the Omi/HtrA2 gene in Parkinson's disease (PD) susceptibility. Therefore, we performed a large-scale analysis of the association of common ...
  • 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.; Chartier-Harlin, M. C.; Dardiotis, E.; Dickson, D. W.; Diehl, N. N.; Elbaz, A.; Ferrarese, C.; Fiske, B.; Gibson, J. M.; Gibson, R.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Boczarska-Jedynak, M.; 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.; Petrucci, 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 Broeckhoven, C.; van de Loo, S.; Vassilatis, D. K.; Vilarino-Guell, C.; White, L. R.; Wirdefeldt, K.; Wszolek, Z. K.; Wu, R. M.; Hentati, F.; Farrer, M. J.; Ross, O. A.; Genetic Epidemiology, Parkinsons (2013)
    BackgroundVariants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays ...
  • The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants 

    Heckman, M. G.; Elbaz, A.; Soto-Ortolaza, A. I.; Serie, D. J.; Aasly, J. O.; Annesi, G.; Auburger, G.; Bacon, J. A.; Boczarska-Jedynak, M.; Bozi, M.; Brighina, L.; Chartier-Harlin, M. C.; Dardiotis, E.; Destée, A.; Ferrarese, C.; Ferraris, A.; Fiske, B.; Gispert, S.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Klein, C.; Kruger, R.; Kyratzi, E.; Lin, C. H.; Lohmann, K.; Loriot, M. A.; Lynch, T.; Mellick, G. D.; Mutez, E.; Opala, G.; Park, S. S.; Petrucci, S.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Sohn, Y. H.; Stefanis, L.; Tadic, V.; Tomiyama, H.; Uitti, R. J.; Valente, E. M.; Vassilatis, D. K.; Vilariño-Güell, C.; White, L. R.; Wirdefeldt, K.; Wszolek, Z. K.; Wu, R. M.; Xiromerisiou, G.; Maraganore, D. M.; Farrer, M. J.; Ross, O. A. (2014)
    The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the ...