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Population-specific...
Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
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Heckman, Michael G. (author)
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Soto-Ortolaza, Alexandra I. (author)
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Aasly, Jan O. (author)
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Abahuni, Nadine (author)
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Annesi, Grazia (author)
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Bacon, Justin A. (author)
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Bardien, Soraya (author)
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Bozi, Maria (author)
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Brice, Alexis (author)
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Brighina, Laura (author)
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Carr, Jonathan (author)
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Chartier-Harlin, Marie-Christine (author)
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Dardiotis, Efthimios (author)
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Dickson, Dennis W. (author)
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Diehl, Nancy N. (author)
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Elbaz, Alexis (author)
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Ferrarese, Carlo (author)
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Fiske, Brian (author)
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Gibson, J. Mark (author)
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Gibson, Rachel (author)
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Hadjigeorgiou, Georgios M. (author)
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Hattori, Nobutaka (author)
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Ioannidis, John P. A. (author)
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Boczarska-Jedynak, Magdalena (author)
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Jasinska-Myga, Barbara (author)
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Jeon, Beom S. (author)
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Kim, Yun Joong (author)
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Klein, Christine (author)
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Kruger, Rejko (author)
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Kyratzi, Elli (author)
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Lesage, Suzanne (author)
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Lin, Chin-Hsien (author)
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Lynch, Timothy (author)
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Maraganore, Demetrius M. (author)
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Mellick, George D. (author)
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Mutez, Eugenie (author)
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- Nilsson, Christer (author)
- 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 Medicine
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Opala, Grzegorz (author)
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Park, Sung Sup (author)
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Petrucci, Simona (author)
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- Puschmann, Andreas (author)
- 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 Medicine
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Quattrone, Aldo (author)
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Sharma, Manu (author)
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Silburn, Peter A. (author)
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Sohn, Young Ho (author)
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Stefanis, Leonidas (author)
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Tadic, Vera (author)
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Theuns, Jessie (author)
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Tomiyama, Hiroyuki (author)
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Uitti, Ryan J. (author)
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Valente, Enza Maria (author)
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Van Broeckhoven, Christine (author)
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van de Loo, Simone (author)
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Vassilatis, Demetrios K. (author)
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Vilarino-Gueell, Carles (author)
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White, Linda R. (author)
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- Wirdefeldt, Karin (author)
- Karolinska Institutet
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Wszolek, Zbigniew K. (author)
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Wu, Ruey-Meei (author)
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Hentati, Faycal (author)
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Farrer, Matthew J. (author)
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Ross, Owen A. (author)
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(creator_code:org_t)
- 2013-08-02
- 2013
- English.
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In: Movement Disorders. - : Wiley. - 0885-3185. ; 28:12, s. 1740-1744
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http://dx.doi.org/10...
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https://europepmc.or...
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Abstract
Subject headings
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- 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
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Parkinson's disease
- LRRK2
- genetics
- association study
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Heckman, Michael ...
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Soto-Ortolaza, A ...
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Aasly, Jan O.
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Abahuni, Nadine
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Annesi, Grazia
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Bacon, Justin A.
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show more...
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Bardien, Soraya
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Bozi, Maria
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Brice, Alexis
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Brighina, Laura
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Carr, Jonathan
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Chartier-Harlin, ...
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Dardiotis, Efthi ...
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Dickson, Dennis ...
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Diehl, Nancy N.
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Elbaz, Alexis
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Ferrarese, Carlo
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Fiske, Brian
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Gibson, J. Mark
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Gibson, Rachel
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Hadjigeorgiou, G ...
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Hattori, Nobutak ...
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Ioannidis, John ...
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Boczarska-Jedyna ...
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Jasinska-Myga, B ...
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Jeon, Beom S.
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Kim, Yun Joong
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Klein, Christine
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Kruger, Rejko
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Kyratzi, Elli
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Lesage, Suzanne
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Lin, Chin-Hsien
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Lynch, Timothy
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Maraganore, Deme ...
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Mellick, George ...
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Mutez, Eugenie
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Nilsson, Christe ...
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Opala, Grzegorz
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Park, Sung Sup
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Petrucci, Simona
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Puschmann, Andre ...
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Quattrone, Aldo
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Sharma, Manu
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Silburn, Peter A ...
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Sohn, Young Ho
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Stefanis, Leonid ...
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Tadic, Vera
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Theuns, Jessie
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Tomiyama, Hiroyu ...
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Uitti, Ryan J.
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Valente, Enza Ma ...
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Van Broeckhoven, ...
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van de Loo, Simo ...
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Vassilatis, Deme ...
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Vilarino-Gueell, ...
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White, Linda R.
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Wirdefeldt, Kari ...
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Wszolek, Zbignie ...
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Wu, Ruey-Meei
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Hentati, Faycal
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Farrer, Matthew ...
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Ross, Owen A.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Movement Disorde ...
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Movement disorde ...
- By the university
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Lund University
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Karolinska Institutet