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)

Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

Article/chapterEnglish2013

Publisher, publication year, extent ...

2013-08-02
Wiley,2013

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LIBRIS-ID:oai:lup.lub.lu.se:b34b6bda-8889-4e51-803b-b4f0aa8be31d
https://lup.lub.lu.se/record/4212906URI
https://doi.org/10.1002/mds.25600DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:127643089URI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:art swepub-publicationtype
Subject category:ref swepub-contenttype

Notes

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 and genre

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
Parkinson's disease
LRRK2
genetics
association study

Added entries (persons, corporate bodies, meetings, titles ...)

Soto-Ortolaza, Alexandra I. (author)
Aasly, Jan O. (author)
Abahuni, Nadine (author)
Annesi, Grazia (author)
Bacon, Justin A. (author)
Bardien, Soraya (author)
Bozi, Maria (author)
Brice, Alexis (author)
Brighina, Laura (author)
Carr, Jonathan (author)
Chartier-Harlin, Marie-Christine (author)
Dardiotis, Efthimios (author)
Dickson, Dennis W. (author)
Diehl, Nancy N. (author)
Elbaz, Alexis (author)
Ferrarese, Carlo (author)
Fiske, Brian (author)
Gibson, J. Mark (author)
Gibson, Rachel (author)
Hadjigeorgiou, Georgios M. (author)
Hattori, Nobutaka (author)
Ioannidis, John P. A. (author)
Boczarska-Jedynak, Magdalena (author)
Jasinska-Myga, Barbara (author)
Jeon, Beom S. (author)
Kim, Yun Joong (author)
Klein, Christine (author)
Kruger, Rejko (author)
Kyratzi, Elli (author)
Lesage, Suzanne (author)
Lin, Chin-Hsien (author)
Lynch, Timothy (author)
Maraganore, Demetrius M. (author)
Mellick, George D. (author)
Mutez, Eugenie (author)
Nilsson, ChristerLund 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(Swepub:lu)neur-cni (author)
Opala, Grzegorz (author)
Park, Sung Sup (author)
Petrucci, Simona (author)
Puschmann, AndreasLund 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(Swepub:lu)med-aps (author)
Quattrone, Aldo (author)
Sharma, Manu (author)
Silburn, Peter A. (author)
Sohn, Young Ho (author)
Stefanis, Leonidas (author)
Tadic, Vera (author)
Theuns, Jessie (author)
Tomiyama, Hiroyuki (author)
Uitti, Ryan J. (author)
Valente, Enza Maria (author)
Van Broeckhoven, Christine (author)
van de Loo, Simone (author)
Vassilatis, Demetrios K. (author)
Vilarino-Gueell, Carles (author)
White, Linda R. (author)
Wirdefeldt, KarinKarolinska Institutet (author)
Wszolek, Zbigniew K. (author)
Wu, Ruey-Meei (author)
Hentati, Faycal (author)
Farrer, Matthew J. (author)
Ross, Owen A. (author)
Psykiatri, LundSektion IV (creator_code:org_t)

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In:Movement Disorders: Wiley28:12, s. 1740-17440885-3185
In:Movement disorders : official journal of the Movement Disorder Society: Wiley28:12, s. 1740-17441531-8257

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By the author/editor: Heckman, Michael ...; Soto-Ortolaza, A ...; Aasly, Jan O.; Abahuni, Nadine; Annesi, Grazia; Bacon, Justin A.; show more...; Bardien, Soraya; Bozi, Maria; Brice, Alexis; Brighina, Laura; Carr, Jonathan; Chartier-Harlin, ...; Dardiotis, Efthi ...; Dickson, Dennis ...; Diehl, Nancy N.; Elbaz, Alexis; Ferrarese, Carlo; Fiske, Brian; Gibson, J. Mark; Gibson, Rachel; Hadjigeorgiou, G ...; Hattori, Nobutak ...; Ioannidis, John ...; Boczarska-Jedyna ...; Jasinska-Myga, B ...; Jeon, Beom S.; Kim, Yun Joong; Klein, Christine; Kruger, Rejko; Kyratzi, Elli; Lesage, Suzanne; Lin, Chin-Hsien; Lynch, Timothy; Maraganore, Deme ...; Mellick, George ...; Mutez, Eugenie; Nilsson, Christe ...; Opala, Grzegorz; Park, Sung Sup; Petrucci, Simona; Puschmann, Andre ...; Quattrone, Aldo; Sharma, Manu; Silburn, Peter A ...; Sohn, Young Ho; Stefanis, Leonid ...; Tadic, Vera; Theuns, Jessie; Tomiyama, Hiroyu ...; Uitti, Ryan J.; Valente, Enza Ma ...; Van Broeckhoven, ...; van de Loo, Simo ...; Vassilatis, Deme ...; Vilarino-Gueell, ...; White, Linda R.; Wirdefeldt, Kari ...; Wszolek, Zbignie ...; Wu, Ruey-Meei; Hentati, Faycal; Farrer, Matthew ...; Ross, Owen A.; show less...

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