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Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, Viallet F, Lohmann E, Corvol JC, Honoré A, Rivaud S, Vidailhet M, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. Among authors: corvol jc. Hum Mol Genet. 2011 Jan 1;20(1):202-10. doi: 10.1093/hmg/ddq454. Epub 2010 Oct 14. Hum Mol Genet. 2011. PMID: 20947659
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. Among authors: corvol jc. Acta Neuropathol. 2014 Nov;128(5):705-22. doi: 10.1007/s00401-014-1289-8. Epub 2014 May 24. Acta Neuropathol. 2014. PMID: 24859968
Sleep aspects on video-polysomnography in LRRK2 mutation carriers.
Ehrminger M, Leu-Semenescu S, Cormier F, Corvol JC, Vidailhet M, Debellemaniere E, Brice A, Arnulf I. Ehrminger M, et al. Among authors: corvol jc. Mov Disord. 2015 Nov;30(13):1839-43. doi: 10.1002/mds.26412. Epub 2015 Oct 15. Mov Disord. 2015. PMID: 26468079
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. Among authors: corvol jc. 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.
Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease.
Kraemmer J, Smith K, Weintraub D, Guillemot V, Nalls MA, Cormier-Dequaire F, Moszer I, Brice A, Singleton AB, Corvol JC. Kraemmer J, et al. Among authors: corvol jc. J Neurol Neurosurg Psychiatry. 2016 Oct;87(10):1106-11. doi: 10.1136/jnnp-2015-312848. Epub 2016 Apr 13. J Neurol Neurosurg Psychiatry. 2016. PMID: 27076492 Free PMC article.
The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.
Gautier CA, Erpapazoglou Z, Mouton-Liger F, Muriel MP, Cormier F, Bigou S, Duffaure S, Girard M, Foret B, Iannielli A, Broccoli V, Dalle C, Bohl D, Michel PP, Corvol JC, Brice A, Corti O. Gautier CA, et al. Among authors: corvol jc. Hum Mol Genet. 2016 Jul 15;25(14):2972-2984. doi: 10.1093/hmg/ddw148. Epub 2016 May 19. Hum Mol Genet. 2016. PMID: 27206984
Inflammatory profile in LRRK2-associated prodromal and clinical PD.
Brockmann K, Apel A, Schulte C, Schneiderhan-Marra N, Pont-Sunyer C, Vilas D, Ruiz-Martinez J, Langkamp M, Corvol JC, Cormier F, Knorpp T, Joos TO, Gasser T, Schüle B, Aasly JO, Foroud T, Marti-Masso JF, Brice A, Tolosa E, Marras C, Berg D, Maetzler W. Brockmann K, et al. Among authors: corvol jc. J Neuroinflammation. 2016 May 24;13(1):122. doi: 10.1186/s12974-016-0588-5. J Neuroinflammation. 2016. PMID: 27220776 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. Among authors: corvol jc. Ann Neurol. 2016 Nov;80(5):674-685. doi: 10.1002/ana.24781. Ann Neurol. 2016. PMID: 27717005 Free PMC article.
346 results