Εμφάνιση απλής εγγραφής

dc.creatorHeckman, M. G.en
dc.creatorSoto-Ortolaza, A. I.en
dc.creatorAasly, J. O.en
dc.creatorAbahuni, N.en
dc.creatorAnnesi, G.en
dc.creatorBacon, J. A.en
dc.creatorBardien, S.en
dc.creatorBozi, M.en
dc.creatorBrice, A.en
dc.creatorBrighina, L.en
dc.creatorCarr, J.en
dc.creatorChartier-Harlin, M. C.en
dc.creatorDardiotis, E.en
dc.creatorDickson, D. W.en
dc.creatorDiehl, N. N.en
dc.creatorElbaz, A.en
dc.creatorFerrarese, C.en
dc.creatorFiske, B.en
dc.creatorGibson, J. M.en
dc.creatorGibson, R.en
dc.creatorHadjigeorgiou, G. M.en
dc.creatorHattori, N.en
dc.creatorIoannidis, J. P. A.en
dc.creatorBoczarska-Jedynak, M.en
dc.creatorJasinska-Myga, B.en
dc.creatorJeon, B. S.en
dc.creatorKim, Y. J.en
dc.creatorKlein, C.en
dc.creatorKruger, R.en
dc.creatorKyratzi, E.en
dc.creatorLesage, S.en
dc.creatorLin, C. H.en
dc.creatorLynch, T.en
dc.creatorMaraganore, D. M.en
dc.creatorMellick, G. D.en
dc.creatorMutez, E.en
dc.creatorNilsson, C.en
dc.creatorOpala, G.en
dc.creatorPark, S. S.en
dc.creatorPetrucci, S.en
dc.creatorPuschmann, A.en
dc.creatorQuattrone, A.en
dc.creatorSharma, M.en
dc.creatorSilburn, P. A.en
dc.creatorSohn, Y. H.en
dc.creatorStefanis, L.en
dc.creatorTadic, V.en
dc.creatorTheuns, J.en
dc.creatorTomiyama, H.en
dc.creatorUitti, R. J.en
dc.creatorValente, E. M.en
dc.creatorVan Broeckhoven, C.en
dc.creatorvan de Loo, S.en
dc.creatorVassilatis, D. K.en
dc.creatorVilarino-Guell, C.en
dc.creatorWhite, L. R.en
dc.creatorWirdefeldt, K.en
dc.creatorWszolek, Z. K.en
dc.creatorWu, R. M.en
dc.creatorHentati, F.en
dc.creatorFarrer, M. J.en
dc.creatorRoss, O. A.en
dc.creatorGenetic Epidemiology, Parkinsonsen
dc.date.accessioned2015-11-23T10:30:06Z
dc.date.available2015-11-23T10:30:06Z
dc.date.issued2013
dc.identifier10.1002/mds.25600
dc.identifier.issn0885-3185
dc.identifier.urihttp://hdl.handle.net/11615/28488
dc.description.abstractBackgroundVariants 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 many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease. MethodsThe Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. ResultsHerein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups. ConclusionsEstablishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. (c) 2013 International Parkinson and Movement Disorder Societyen
dc.sourceMovement Disordersen
dc.source.uri<Go to ISI>://WOS:000326065900025
dc.subjectParkinson's diseaseen
dc.subjectLRRK2en
dc.subjectgeneticsen
dc.subjectassociation studyen
dc.subjectGENOME-WIDE ASSOCIATIONen
dc.subjectALPHA-SYNUCLEINen
dc.subjectVPS35en
dc.subjectRISKen
dc.subjectMICEen
dc.subjectClinical Neurologyen
dc.titlePopulation-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortiumen
dc.typejournalArticleen


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