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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 ...

Genetic basis of Parkinson disease

Xiromerisiou, G.; Dardiotis, E.; Tsimourtou, V.; Kountra, P. M.; Paterakis, K. N.; Kapsalaki, E. Z.; Fountas, K. N.; Hadjigeorgiou, G. M. (2010)

Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal ...

THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations

Xiromerisiou, G.; Houlden, H.; Scarmeas, N.; Stamelou, M.; Kara, E.; Hardy, J.; Lees, A. J.; Korlipara, P.; Limousin, P.; Paudel, R.; Hadjigeorgiou, G. M.; Bhatia, K. P. (2012)

THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been ...

Lack of Association of the UCHL-1 Gene with Parkinson's Disease in a Greek Cohort: A Haplotype-Tagging Approach

Xiromerisiou, G.; Kyratzi, E.; Dardiotis, E.; Bozi, M.; Tsimourtou, V.; Stamboulis, E.; Ralli, S.; Vassilatis, D.; Gourbali, V.; Kountra, P. M.; Fountas, K.; Papadimitriou, A.; Stefanis, L.; Hadjigeorgiou, G. M. (2011)

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 ...

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 ...

Autoantibodies to alpha-synuclein in inherited Parkinson's disease

Papachroni, K. K.; Ninkina, N.; Papapanagiotou, A.; Hadjigeorgiou, G. M.; Xiromerisiou, G.; Papadimitriou, A.; Kalofoutis, A.; Buchman, V. L. (2007)

Neurodegeneration in Parkinson's disease (PD) is accompanied by a local immune reaction in the affected brain regions. It is well established that alpha-synuclein is directly implicated in the pathogenesis of PD. Development ...

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) ...

Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease

Michelakakis, H.; Xiromerisiou, G.; Dardiotis, E.; Bozi, M.; Vassilatis, D.; Kountra, P. M.; Patramani, G.; Moraitou, M.; Papadimitriou, D.; Stamboulis, E.; Stefanis, L.; Zintzaras, E.; Hadjigeorgiou, G. M. (2012)

Lysosomal protein 2 (LIMP2), the product of the scavenger receptor class B member 2 (SCARB2) gene, is a ubiquitously expressed transmembrane protein that is the mannose-6-phosphateindependent receptor for glucocerebrosidase ...

Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset

Plaitakis, A.; Latsoudis, H.; Kanavouras, K.; Ritz, B.; Bronstein, J. M.; Skoula, I.; Mastorodemos, V.; Papapetropoulos, S.; Borompokas, N.; Zaganas, I.; Xiromerisiou, G.; Hadjigeorgiou, G. M.; Spanaki, C. (2010)

Parkinson's disease (PD), a common neurodegenerative disorder characterized by progressive loss of dopaminergic neurons and their terminations in the basal ganglia, is thought to be related to genetic and environmental ...