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Page 1
Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease.
Cormier-Dequaire F, Bekadar S, Anheim M, Lebbah S, Pelissolo A, Krack P, Lacomblez L, Lhommée E, Castrioto A, Azulay JP, Defebvre L, Kreisler A, Durif F, Marques-Raquel A, Brefel-Courbon C, Grabli D, Roze E, Llorca PM, Ory-Magne F, Benatru I, Ansquer S, Maltête D, Tir M, Krystkowiak P, Tranchant C, Lagha-Boukbiza O, Lebrun-Vignes B, Mangone G, Vidailhet M, Charbonnier-Beaupel F, Rascol O, Lesage S, Brice A, Tezenas du Montcel S, Corvol JC; BADGE-PD study group. Cormier-Dequaire F, et al. Mov Disord. 2018 Dec;33(12):1878-1886. doi: 10.1002/mds.27519. Epub 2018 Nov 16. Mov Disord. 2018. PMID: 30444952
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.
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.
Alves S, Cormier-Dequaire F, Marinello M, Marais T, Muriel MP, Beaumatin F, Charbonnier-Beaupel F, Tahiri K, Seilhean D, El Hachimi K, Ruberg M, Stevanin G, Barkats M, den Dunnen W, Priault M, Brice A, Durr A, Corvol JC, Sittler A. Alves S, et al. Acta Neuropathol. 2014 Nov;128(5):705-22. doi: 10.1007/s00401-014-1289-8. Epub 2014 May 24. Acta Neuropathol. 2014. PMID: 24859968
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.
34 results