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Parcourir par auteur "Pramstaller, P. P."

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    • 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 ...

    • Large-scale replication and heterogeneity in Parkinson disease genetic loci 

      Sharma, M.; Ioannidis, J. P. A.; Aasly, J. O.; Annesi, G.; Brice, A.; Van Broeckhoven, C.; Bertram, L.; Bozi, M.; Crosiers, D.; Clarke, C.; Facheris, M.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilariño-Güell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Krüger, R. (2012)
      Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...

    • A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants 

      Sharma, M.; Ioannidis, J. P. A.; Aasly, J. O.; Annesi, G.; Brice, A.; Bertram, L.; Bozi, M.; Barcikowska, M.; Crosiers, D.; Clarke, C. E.; Facheris, M. F.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilarino-Guell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B. S.; Jamrozik, Z.; Krygowska-Wajs, A.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Libioulle, C.; Murata, M.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Meitnger, T.; Zimprich, A.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Strom, T. M.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Van Broeckhoven, C.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yomono, H. S.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Kruger, R.; Consortium, Geopd (2012)
      Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, ...

    • Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 

      Kemlink, D.; Plazzi, G.; Vetrugno, R.; Provini, F.; Polo, O.; Stiasny-Kolster, K.; Oertel, W.; Nevsimalova, S.; Sonka, K.; Högl, B.; Frauscher, B.; Hadjigeorgiou, G. M.; Pramstaller, P. P.; Lichtner, P.; Meitinger, T.; Müller-Myshok, B.; Winkelmann, J.; Montagna, P. (2008)
      Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. ...