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Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.
Liu G, Peng J, Liao Z, Locascio JJ, Corvol JC, Zhu F, Dong X, Maple-Grødem J, Campbell MC, Elbaz A, Lesage S, Brice A, Mangone G, Growdon JH, Hung AY, Schwarzschild MA, Hayes MT, Wills AM, Herrington TM, Ravina B, Shoulson I, Taba P, Kõks S, Beach TG, Cormier-Dequaire F, Alves G, Tysnes OB, Perlmutter JS, Heutink P, Amr SS, van Hilten JJ, Kasten M, Mollenhauer B, Trenkwalder C, Klein C, Barker RA, Williams-Gray CH, Marinus J; International Genetics of Parkinson Disease Progression (IGPP) Consortium; Scherzer CR. Liu G, et al. Nat Genet. 2021 Jun;53(6):787-793. doi: 10.1038/s41588-021-00847-6. Epub 2021 May 6. Nat Genet. 2021. PMID: 33958783 Free PMC article.
Dopa-decarboxylase gene polymorphisms affect the motor response to L-dopa in Parkinson's disease.
Devos D, Lejeune S, Cormier-Dequaire F, Tahiri K, Charbonnier-Beaupel F, Rouaix N, Duhamel A, Sablonnière B, Bonnet AM, Bonnet C, Zahr N, Costentin J, Vidailhet M, Corvol JC. Devos D, et al. Parkinsonism Relat Disord. 2014 Feb;20(2):170-5. doi: 10.1016/j.parkreldis.2013.10.017. Epub 2013 Oct 24. Parkinsonism Relat Disord. 2014. PMID: 24216088 Clinical Trial.
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium. Mencacci NE, et al. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
Dopaminergic denervation severity depends on COMT Val158Met polymorphism in Parkinson's disease.
Muellner J, Gharrad I, Habert MO, Kas A, Martini JB, Cormier-Dequaire F, Tahiri K, Vidailhet M, Meier N, Brice A, Schuepbach M, Mallet A, Hartmann A, Corvol JC. Muellner J, et al. Parkinsonism Relat Disord. 2015 May;21(5):471-6. doi: 10.1016/j.parkreldis.2015.02.009. Epub 2015 Feb 19. Parkinsonism Relat Disord. 2015. PMID: 25753458 Clinical Trial.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. Am J Hum Genet. 2016. PMID: 26942284 Free PMC article.
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.
Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, Guerreiro R, Majounie E, Federoff M, Heutink P, Wood NW, Gasser T, Hardy J, Tison F, Singleton A, Brice A; French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Neurol Genet. 2015 Jun 18;1(1):e9. doi: 10.1212/NXG.0000000000000009. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066548 Free PMC article.
Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.
Liu G, Boot B, Locascio JJ, Jansen IE, Winder-Rhodes S, Eberly S, Elbaz A, Brice A, Ravina B, van Hilten JJ, Cormier-Dequaire F, Corvol JC, Barker RA, Heutink P, Marinus J, Williams-Gray CH, Scherzer CR; International Genetics of Parkinson Disease Progression (IGPP) Consortium. Liu G, et al. Ann Neurol. 2016 Nov;80(5):674-685. doi: 10.1002/ana.24781. Ann Neurol. 2016. PMID: 27717005 Free PMC article.
Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts.
Liu G, Locascio JJ, Corvol JC, Boot B, Liao Z, Page K, Franco D, Burke K, Jansen IE, Trisini-Lipsanopoulos A, Winder-Rhodes S, Tanner CM, Lang AE, Eberly S, Elbaz A, Brice A, Mangone G, Ravina B, Shoulson I, Cormier-Dequaire F, Heutink P, van Hilten JJ, Barker RA, Williams-Gray CH, Marinus J, Scherzer CR; HBS; CamPaIGN; PICNICS; PROPARK; PSG; DIGPD; PDBP. Liu G, et al. Lancet Neurol. 2017 Aug;16(8):620-629. doi: 10.1016/S1474-4422(17)30122-9. Epub 2017 Jun 16. Lancet Neurol. 2017. PMID: 28629879 Free PMC article.
34 results