Sökning: WFRF:(Wszolek Zbigniew K.) > Population-specific...
Fältnamn | Indikatorer | Metadata |
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000 | 06034naa a2201153 4500 | |
001 | oai:lup.lub.lu.se:b34b6bda-8889-4e51-803b-b4f0aa8be31d | |
003 | SwePub | |
008 | 160401s2013 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:127643089 | |
024 | 7 | a https://lup.lub.lu.se/record/42129062 URI |
024 | 7 | a https://doi.org/10.1002/mds.256002 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1276430892 URI |
040 | a (SwePub)lud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Heckman, Michael G.4 aut |
245 | 1 0 | a Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium |
264 | c 2013-08-02 | |
264 | 1 | b Wiley,c 2013 |
520 | a 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 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 Society | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a Parkinson's disease | |
653 | a LRRK2 | |
653 | a genetics | |
653 | a association study | |
700 | 1 | a Soto-Ortolaza, Alexandra I.4 aut |
700 | 1 | a Aasly, Jan O.4 aut |
700 | 1 | a Abahuni, Nadine4 aut |
700 | 1 | a Annesi, Grazia4 aut |
700 | 1 | a Bacon, Justin A.4 aut |
700 | 1 | a Bardien, Soraya4 aut |
700 | 1 | a Bozi, Maria4 aut |
700 | 1 | a Brice, Alexis4 aut |
700 | 1 | a Brighina, Laura4 aut |
700 | 1 | a Carr, Jonathan4 aut |
700 | 1 | a Chartier-Harlin, Marie-Christine4 aut |
700 | 1 | a Dardiotis, Efthimios4 aut |
700 | 1 | a Dickson, Dennis W.4 aut |
700 | 1 | a Diehl, Nancy N.4 aut |
700 | 1 | a Elbaz, Alexis4 aut |
700 | 1 | a Ferrarese, Carlo4 aut |
700 | 1 | a Fiske, Brian4 aut |
700 | 1 | a Gibson, J. Mark4 aut |
700 | 1 | a Gibson, Rachel4 aut |
700 | 1 | a Hadjigeorgiou, Georgios M.4 aut |
700 | 1 | a Hattori, Nobutaka4 aut |
700 | 1 | a Ioannidis, John P. A.4 aut |
700 | 1 | a Boczarska-Jedynak, Magdalena4 aut |
700 | 1 | a Jasinska-Myga, Barbara4 aut |
700 | 1 | a Jeon, Beom S.4 aut |
700 | 1 | a Kim, Yun Joong4 aut |
700 | 1 | a Klein, Christine4 aut |
700 | 1 | a Kruger, Rejko4 aut |
700 | 1 | a Kyratzi, Elli4 aut |
700 | 1 | a Lesage, Suzanne4 aut |
700 | 1 | a Lin, Chin-Hsien4 aut |
700 | 1 | a Lynch, Timothy4 aut |
700 | 1 | a Maraganore, Demetrius M.4 aut |
700 | 1 | a Mellick, George D.4 aut |
700 | 1 | a Mutez, Eugenie4 aut |
700 | 1 | a Nilsson, Christeru Lund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)neur-cni |
700 | 1 | a Opala, Grzegorz4 aut |
700 | 1 | a Park, Sung Sup4 aut |
700 | 1 | a Petrucci, Simona4 aut |
700 | 1 | a Puschmann, Andreasu Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-aps |
700 | 1 | a Quattrone, Aldo4 aut |
700 | 1 | a Sharma, Manu4 aut |
700 | 1 | a Silburn, Peter A.4 aut |
700 | 1 | a Sohn, Young Ho4 aut |
700 | 1 | a Stefanis, Leonidas4 aut |
700 | 1 | a Tadic, Vera4 aut |
700 | 1 | a Theuns, Jessie4 aut |
700 | 1 | a Tomiyama, Hiroyuki4 aut |
700 | 1 | a Uitti, Ryan J.4 aut |
700 | 1 | a Valente, Enza Maria4 aut |
700 | 1 | a Van Broeckhoven, Christine4 aut |
700 | 1 | a van de Loo, Simone4 aut |
700 | 1 | a Vassilatis, Demetrios K.4 aut |
700 | 1 | a Vilarino-Gueell, Carles4 aut |
700 | 1 | a White, Linda R.4 aut |
700 | 1 | a Wirdefeldt, Karinu Karolinska Institutet4 aut |
700 | 1 | a Wszolek, Zbigniew K.4 aut |
700 | 1 | a Wu, Ruey-Meei4 aut |
700 | 1 | a Hentati, Faycal4 aut |
700 | 1 | a Farrer, Matthew J.4 aut |
700 | 1 | a Ross, Owen A.4 aut |
710 | 2 | a Psykiatri, Lundb Sektion IV4 org |
773 | 0 | t Movement Disordersd : Wileyg 28:12, s. 1740-1744q 28:12<1740-1744x 0885-3185 |
773 | 0 | t Movement disorders : official journal of the Movement Disorder Societyd : Wileyg 28:12, s. 1740-1744q 28:12<1740-1744x 1531-8257 |
856 | 4 | u http://dx.doi.org/10.1002/mds.25600y FULLTEXT |
856 | 4 | u https://europepmc.org/articles/pmc4108155?pdf=render |
856 | 4 8 | u https://lup.lub.lu.se/record/4212906 |
856 | 4 8 | u https://doi.org/10.1002/mds.25600 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:127643089 |
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