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Items: 1 to 20 of 169

1.

LRRK2 overexpression alters glutamatergic presynaptic plasticity, striatal dopamine tone, postsynaptic signal transduction, motor activity and memory.

Beccano-Kelly DA, Volta M, Munsie LN, Paschall SA, Tatarnikov I, Co K, Chou P, Cao LP, Bergeron S, Mitchell E, Han H, Melrose HL, Tapia L, Raymond LA, Farrer MJ, Milnerwood AJ.

Hum Mol Genet. 2015 Mar 1;24(5):1336-49. doi: 10.1093/hmg/ddu543. Epub 2014 Oct 24.

PMID:
25343991
2.

Disease penetrance of late-onset parkinsonism: a meta-analysis.

Trinh J, Guella I, Farrer MJ.

JAMA Neurol. 2014 Dec;71(12):1535-9. doi: 10.1001/jamaneurol.2014.1909.

PMID:
25330418
3.

Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2.

Estanga A, Rodriguez-Oroz MC, Ruiz-Martinez J, Barandiaran M, Gorostidi A, Bergareche A, Mondragon E, Lopez de Munain A, Marti-Masso JF.

Parkinsonism Relat Disord. 2014 Oct;20(10):1097-100. doi: 10.1016/j.parkreldis.2014.07.005. Epub 2014 Jul 30.

PMID:
25127457
4.

LRRK2 parkinsonism in Tunisia and Norway: a comparative analysis of disease penetrance.

Hentati F, Trinh J, Thompson C, Nosova E, Farrer MJ, Aasly JO.

Neurology. 2014 Aug 5;83(6):568-9. doi: 10.1212/WNL.0000000000000675. Epub 2014 Jul 9. No abstract available.

5.

LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population.

Cilia R, Siri C, Rusconi D, Allegra R, Ghiglietti A, Sacilotto G, Zini M, Zecchinelli AL, Asselta R, Duga S, Paganoni AM, Pezzoli G, Seia M, Goldwurm S.

Parkinsonism Relat Disord. 2014 Aug;20(8):911-4. doi: 10.1016/j.parkreldis.2014.04.016. Epub 2014 Apr 25.

6.

Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism.

Trinh J, Amouri R, Duda JE, Morley JF, Read M, Donald A, Vilariño-Güell C, Thompson C, Szu Tu C, Gustavsson EK, Ben Sassi S, Hentati E, Zouari M, Farhat E, Nabli F, Hentati F, Farrer MJ.

Neurobiol Aging. 2014 May;35(5):1125-31. doi: 10.1016/j.neurobiolaging.2013.11.015. Epub 2013 Nov 22.

PMID:
24355527
7.

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

Alcalay RN, Mirelman A, Saunders-Pullman R, Tang MX, Mejia Santana H, Raymond D, Roos E, Orbe-Reilly M, Gurevich T, Bar Shira A, Gana Weisz M, Yasinovsky K, Zalis M, Thaler A, Deik A, Barrett MJ, Cabassa J, Groves M, Hunt AL, Lubarr N, San Luciano M, Miravite J, Palmese C, Sachdev R, Sarva H, Severt L, Shanker V, Swan MC, Soto-Valencia J, Johannes B, Ortega R, Fahn S, Cote L, Waters C, Mazzoni P, Ford B, Louis E, Levy O, Rosado L, Ruiz D, Dorovski T, Pauciulo M, Nichols W, Orr-Urtreger A, Ozelius L, Clark L, Giladi N, Bressman S, Marder KS.

Mov Disord. 2013 Dec;28(14):1966-71. doi: 10.1002/mds.25647. Epub 2013 Oct 15.

8.

Fall risk and gait in Parkinson's disease: the role of the LRRK2 G2019S mutation.

Mirelman A, Heman T, Yasinovsky K, Thaler A, Gurevich T, Marder K, Bressman S, Bar-Shira A, Orr-Urtreger A, Giladi N, Hausdorff JM; LRRK2 Ashkenazi Jewish Consortium.

Mov Disord. 2013 Oct;28(12):1683-90. doi: 10.1002/mds.25587. Epub 2013 Oct 7.

PMID:
24123150
9.

Advances in the genetics of Parkinson disease.

Trinh J, Farrer M.

Nat Rev Neurol. 2013 Aug;9(8):445-54. doi: 10.1038/nrneurol.2013.132. Epub 2013 Jul 16. Review.

PMID:
23857047
10.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS; COMMITTEE ON GENETICS, AND; AMERICAN COLLEGE OF MEDICAL GENETICS AND; GENOMICS SOCIAL; ETHICAL; LEGAL ISSUES COMMITTEE.

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

11.

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEOPD consortium.

J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. Erratum in: J Med Genet. 2013 Mar;50(3):202.

12.

LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6.

Berwick DC, Harvey K.

Hum Mol Genet. 2012 Nov 15;21(22):4966-79. doi: 10.1093/hmg/dds342. Epub 2012 Aug 16.

13.

The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway.

Bravo-San Pedro JM, Niso-Santano M, Gómez-Sánchez R, Pizarro-Estrella E, Aiastui-Pujana A, Gorostidi A, Climent V, López de Maturana R, Sanchez-Pernaute R, López de Munain A, Fuentes JM, González-Polo RA.

Cell Mol Life Sci. 2013 Jan;70(1):121-36. doi: 10.1007/s00018-012-1061-y. Epub 2012 Jul 8.

PMID:
22773119
14.

Disrupted autophagy leads to dopaminergic axon and dendrite degeneration and promotes presynaptic accumulation of α-synuclein and LRRK2 in the brain.

Friedman LG, Lachenmayer ML, Wang J, He L, Poulose SM, Komatsu M, Holstein GR, Yue Z.

J Neurosci. 2012 May 30;32(22):7585-93. doi: 10.1523/JNEUROSCI.5809-11.2012.

15.

LRRK2 I2020T mutation is associated with tau pathology.

Ujiie S, Hatano T, Kubo S, Imai S, Sato S, Uchihara T, Yagishita S, Hasegawa K, Kowa H, Sakai F, Hattori N.

Parkinsonism Relat Disord. 2012 Aug;18(7):819-23. doi: 10.1016/j.parkreldis.2012.03.024. Epub 2012 Apr 22.

PMID:
22525366
16.

Identification of VPS35 mutations replicated in French families with Parkinson disease.

Lesage S, Condroyer C, Klebe S, Honoré A, Tison F, Brefel-Courbon C, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Neurology. 2012 May 1;78(18):1449-50. doi: 10.1212/WNL.0b013e318253d5f2. Epub 2012 Apr 18. No abstract available.

PMID:
22517097
17.

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.

Marras C, Lohmann K, Lang A, Klein C.

Neurology. 2012 Mar 27;78(13):1016-24. doi: 10.1212/WNL.0b013e31824d58ab. Review.

18.

The neuropathology of genetic Parkinson's disease.

Poulopoulos M, Levy OA, Alcalay RN.

Mov Disord. 2012 Jun;27(7):831-42. doi: 10.1002/mds.24962. Epub 2012 Mar 26. Review.

19.

LRRK2 as a modulator of lysosomal calcium homeostasis with downstream effects on autophagy.

Gómez-Suaga P, Hilfiker S.

Autophagy. 2012 Apr;8(4):692-3. doi: 10.4161/auto.19305. Epub 2012 Apr 1.

PMID:
22441017
20.

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP; 23andMe Genetic Epidemiology of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium; Parkinson's Disease GWAS Consortium; Wellcome Trust Case Control Consortium 2), Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L.

PLoS Genet. 2012;8(3):e1002548. doi: 10.1371/journal.pgen.1002548. Epub 2012 Mar 15.

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