Tutto DSpace

Sfoglia per Autore "Lichtner, P."

Items 1-6 di 6

    • 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 ...

    • 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 ...

    • MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease 

      Schormair, B.; Plag, J.; Kaffe, M.; Groß, N.; Czamara, D.; Samtleben, W.; Lichtner, P.; Ströhle, A.; Stefanidis, I.; Vainas, A.; Dardiotis, E.; Sakkas, G. K.; Gieger, C.; Müller-Myhsok, B.; Meitinger, T.; Heemann, U.; Hadjigeorgiou, G. M.; Oexle, K.; Winkelmann, J. (2011)
      Background: Restless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease ...

    • 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, ...

    • Seven new loci associated with age-related macular degeneration 

      Fritsche, L. G.; Chen, W.; Schu, M.; Yaspan, B. L.; Yu, Y.; Thorleifsson, G.; Zack, D. J.; Arakawa, S.; Cipriani, V.; Ripke, S.; Igo, R. P.; Buitendijk, G. H. S.; Sim, X.; Weeks, D. E.; Guymer, R. H.; Merriam, J. E.; Francis, P. J.; Hannum, G.; Agarwal, A.; Armbrecht, A. M.; Audo, I.; Aung, T.; Barile, G. R.; Benchaboune, M.; Bird, A. C.; Bishop, P. N.; Branham, K. E.; Brooks, M.; Brucker, A. J.; Cade, W. H.; Cain, M. S.; Campochiaro, P. A.; Chan, C. C.; Cheng, C. Y.; Chew, E. Y.; Chin, K. A.; Chowers, I.; Clayton, D. G.; Cojocaru, R.; Conley, Y. P.; Cornes, B. K.; Daly, M. J.; Dhillon, B.; Edwards, A. O.; Evangelou, E.; Fagerness, J.; Ferreyra, H. A.; Friedman, J. S.; Geirsdottir, A.; George, R. J.; Gieger, C.; Gupta, N.; Hagstrom, S. A.; Harding, S. P.; Haritoglou, C.; Heckenlively, J. R.; Holz, F. G.; Hughes, G.; Ioannidis, J. P. A.; Ishibashi, T.; Joseph, P.; Jun, G.; Kamatani, Y.; Katsanis, N.; N Keilhauer, C.; Khan, J. C.; Kim, I. K.; Kiyohara, Y.; Klein, B. E. K.; Klein, R.; Kovach, J. L.; Kozak, I.; Lee, C. J.; Lee, K. E.; Lichtner, P.; Lotery, A. J.; Meitinger, T.; Mitchell, P.; Mohand-Saïd, S.; Moore, A. T.; Morgan, D. J.; Morrison, M. A.; Myers, C. E.; Naj, A. C.; Nakamura, Y.; Okada, Y.; Orlin, A.; Ortube, M. C.; Othman, M. I.; Pappas, C.; Park, K. H.; Pauer, G. J. T.; Peachey, N. S.; Poch, O.; Priya, R. R.; Reynolds, R.; Richardson, A. J.; Ripp, R.; Rudolph, G.; Ryu, E.; Sahel, J. A.; Schaumberg, D. A.; Scholl, H. P. N.; Schwartz, S. G.; Scott, W. K.; Shahid, H.; Sigurdsson, H.; Silvestri, G.; Sivakumaran, T. A.; Smith, R. T.; Sobrin, L.; Souied, E. H.; Stambolian, D. E.; Stefansson, H.; Sturgill-Short, G. M.; Takahashi, A.; Tosakulwong, N.; Truitt, B. J.; Tsironi, E. E.; Uitterlinden, A. G.; Van Duijn, C. M.; Vijaya, L.; Vingerling, J. R.; Vithana, E. N.; Webster, A. R.; Wichmann, H. E.; Winkler, T. W.; Wong, T. Y.; Wright, A. F.; Zelenika, D.; Zhang, M.; Zhao, L.; Zhang, K.; Klein, M. L.; Hageman, G. S.; Lathrop, G. M.; Stefansson, K.; Allikmets, R.; Baird, P. N.; Gorin, M. B.; Wang, J. J.; Klaver, C. C. W.; Seddon, J. M.; Pericak-Vance, M. A.; Iyengar, S. K.; Yates, J. R. W.; Swaroop, A.; Weber, B. H. F.; Kubo, M.; Deangelis, M. M.; Léveillard, T.; Thorsteinsdottir, U.; Haines, J. L.; Farrer, L. A.; Heid, I. M.; Abecasis, G. R. (2013)
      Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association ...

    • 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. ...