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Πλοήγηση ανά Συγγραφέα "Ross, O. A."

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    • 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 ...

    • 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 ...

    • 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, ...

    • 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 ...

    • A Swedish family with de novo alpha-synuclein A53T mutation: Evidence for early cortical dysfunction 

      Puschmann, A.; Ross, O. A.; Vilarino-Guell, C.; Lincoln, S. J.; Kachergus, J. M.; Cobb, S. A.; Lindquist, S. G.; Nielsen, J. E.; Wszolek, Z. K.; Farrer, M.; Widner, H.; van Westen, D.; Hagerstrom, D.; Markopoulou, K.; Chase, B. A.; Nilsson, K.; Reimer, J.; Nilsson, C. (2009)
      A de novo alpha-symaclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), ...