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Parcourir par auteur "Singleton, A. B."

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    • Assessment of Parkinson's disease risk loci in Greece 

      Kara, E.; Xiromerisiou, G.; Spanaki, C.; Bozi, M.; Koutsis, G.; Panas, M.; Dardiotis, E.; Ralli, S.; Bras, J.; Letson, C.; Edsall, C.; Pliner, H.; Arepalli, S.; Kalinderi, K.; Fidani, L.; Bostantjopoulou, S.; Keller, M. F.; Wood, N. W.; Hardy, J.; Houlden, H.; Stefanis, L.; Plaitakis, A.; Hernandez, D.; Hadjigeorgiou, G. M.; Nalls, M. A.; Singleton, A. B. (2014)
      Genome-wide association studies (GWAS) have been shown to be a powerful approach to identify risk loci for neurodegenerative diseases. Recent GWAS in Parkinson's disease (PD) have been successful in identifying numerous ...

    • Association between AKT1 gene and Parkinson's disease: A protective haplotype 

      Xiromerisiou, G.; Hadjigeorgiou, G. M.; Papadimitriou, A.; Katsarogiannis, E.; Gourbali, V.; Singleton, A. B. (2008)
      Variation in AKT1 has been associated with schizophrenia, bipolar disease and type 11 diabetes. The aim of the present study was to investigate the potential role of variability within AKT1 as a risk factor for Parkinson's ...

    • Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts 

      Fung, H. C.; Xiromerisiou, G.; Gibbs, J. R.; Wu, Y. R.; Eerola, J.; Gourbali, V.; Hellstrom, O.; Chen, C. M.; Duckworth, J.; Papadimitriou, A.; Tienari, P. J.; Hadjigeorgiou, G. M.; Hardy, J.; Singleton, A. B. (2006)
      Background: The overlap in the clinical and pathological features of tauopathies and synucleinopathies raises the possibility that the tau protein may be important in Parkinson's disease (PD) pathogenesis. Several MAPT ...

    • BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups 

      Xiromerisiou, G.; Hadjigeorgiou, G. M.; Eerola, J.; Fernandez, H. H.; Tsimourtou, V.; Mandel, R.; Hellstrom, O.; Gwinn-Hardy, K.; Okun, M. S.; Tienari, P. J.; Singleton, A. B. (2007)
      Experimental and clinical data suggest that genetic variations in brain-derived neurotrophic factor (BDNF) gene may affect risk for Parkinson's disease (PD). We performed a case-control association analysis of BDNF in three ...

    • The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations 

      Scholz, S. W.; Xiromerisiou, G.; Fung, H. C.; Eerola, J.; Hellstrom, O.; Papadimitriou, A.; Hadjigeorgiou, G. M.; Tienari, P. J.; Fernandez, H. H.; Mandel, R.; Okun, M. S.; Gwinn-Hardy, K.; Singleton, A. B. (2006)
      Coexistence of prion disease and idiopathic Parkinson's disease (TPD) has been previously described. It remains unclear whether this relationship may reflect the high incidence of IPD or whether both prion and IPD share ...

    • Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients 

      Clarimon, J.; Xiromerisiou, G.; Eerola, J.; Gourbali, V.; Hellstrom, O.; Dardiotis, E.; Peuralinna, T.; Papadimitriou, A.; Hadjigeorgiou, G. M.; Tienari, P. J.; Singleton, A. B. (2005)
      Background: Fibroblast growth factor 20 (FGF20) is a neurotrophic factor preferentially expressed in the substantia nigra of rat brain and could be involved in dopaminergic neurons survival. Recently, a strong genetic ...

    • Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease 

      Nalls, M. A.; Pankratz, N.; Lill, C. M.; Do, C. B.; Hernandez, D. G.; Saad, M.; DeStefano, A. L.; Kara, E.; Bras, J.; Sharma, M.; Schulte, C.; Keller, M. F.; Arepalli, S.; Letson, C.; Edsall, C.; Stefansson, H.; Liu, X.; Pliner, H.; Lee, J. H.; Cheng, R.; Ikram, M. A.; Ioannidis, J. P. A.; Hadjigeorgiou, G. M.; Bis, J. C.; Martinez, M.; Perlmutter, J. S.; Goate, A.; Marder, K.; Fiske, B.; Sutherland, M.; Xiromerisiou, G.; Myers, R. H.; Clark, L. N.; Stefansson, K.; Hardy, J. A.; Heutink, P.; Chen, H.; Wood, N. W.; Houlden, H.; Payami, H.; Brice, A.; Scott, W. K.; Gasser, T.; Bertram, L.; Eriksson, N.; Foroud, T.; Singleton, A. B.; Ipdg; Parkins, G. Parkinson's Study Grp PSG; AndMe; GenePd; Ngrc; Hihg; Ashkenazi Jewish Dataset, Investiga; Charge; Nabec; Ukbec; Greek Parkinson's Dis, Consortium; Alzheimer Genetic Analysis, Gr (2014)
      We conducted a meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty-six loci were identified as having genome-wide ...

    • Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants 

      Xiromerisiou, G.; Hadjigeorgiou, G. M.; Gourbali, V.; Johnson, J.; Papakonstantinou, I.; Papadimitriou, A.; Singleton, A. B. (2007)
      Mutations in SNCA and LRRK2 genes, encoding alpha-synuclein and leucine-rich repeat kinase 2, respectively, cause autosomal dominant Parkinson's disease (AdPD). The LRRK2 G2019S (c.6055G > A) and R1441G (c.4321C > G) ...

    • Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium 

      Paisan-Ruiz, C.; Evans, E. W.; Jain, S.; Xiromerisiou, G.; Gibbs, J. R.; Eerola, J.; Gourbali, V.; Hellstrom, O.; Duckworth, J.; Papadimitriou, A.; Tienari, P. J.; Hadjigeorgiou, G. M.; Singleton, A. B. (2006)
      Background: We and others recently identified the gene underlying PARK8 linked Parkinson's disease (PD). This gene, LRRK2, contains mutations that cause an autosomal dominant PD, including a mutation, G2019S, which is the ...