Πλοήγηση ανά Συγγραφέα "Lesage, S."
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Alpha-synuclein repeat variants and survival in parkinson's disease
Chung, S. J.; Biernacka, J. M.; Armasu, S. M.; Anderson, K.; Frigerio, R.; Aasly, J. O.; Annesi, G.; Bentivoglio, A. R.; Brighina, L.; Chartier-Harlin, M. C.; Goldwurm, S.; Hadjigeorgiou, G.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Krüger, R.; Lesage, S.; Markopoulou, K.; Mellick, G.; Morrison, K. E.; Puschmann, A.; Tan, E. K.; Crosiers, D.; Theuns, J.; Van Broeckhoven, C.; Wirdefeldt, K.; Wszolek, Z. K.; Elbaz, A.; Maraganore, D. M.; Yahalom, G.; Orlev, Y.; Cohen, O. S.; Kozlova, E.; Friedman, E.; Inzelberg, R.; Hassin-Baer, S. (2014)Objectives: To determine whether α-synuclein dinucleotide repeat (REP1) genotypes are associated with survival in Parkinson's disease (PD). Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease ... -
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 ... -
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 ... -
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, ... -
Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: Large-scale collaborative study
Evangelou, E.; Maraganore, D. M.; Annesi, G.; Brighina, L.; Brice, A.; Elbaz, A.; Ferrarese, C.; Hadjigeorgiou, G. M.; Krueger, R.; Lambert, J. C.; Lesage, S.; Markopoulou, K.; Mellick, G. D.; Meeus, B.; Pedersen, N. L.; Quattrone, A.; Van Broeckhoven, C.; Sharma, M.; Silburn, P. A.; Tan, E. K.; Wirdefeldt, K.; Ioannidis, J. P. A. (2010)Early genome-wide association (GWA) studies on Parkinson's disease (PD) have not been able to yield conclusive, replicable signals of association, perhaps due to limited sample size. We aimed to investigate whether association ... -
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 ...