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Items: 19

1.

Parkinson's disease associated with 22q11.2 deletion: Clinical characteristics and response to treatment.

Dufournet B, Nguyen K, Charles P, Grabli D, Jacquette A, Borg M, Danaila T, Mutez E, Drapier S, Colin O, Eusebio A, Philip N, Azulay JP.

Rev Neurol (Paris). 2017 Jun;173(6):406-410. doi: 10.1016/j.neurol.2017.03.021. Epub 2017 Apr 29.

2.

LRRK2 detection in human biofluids: potential use as a Parkinson's disease biomarker?

Taymans JM, Mutez E, Drouyer M, Sibran W, Chartier-Harlin MC.

Biochem Soc Trans. 2017 Feb 8;45(1):207-212. doi: 10.1042/BST20160334. Review.

PMID:
28202674
3.

RNA-binding disturbances as a continuum from spinocerebellar ataxia type 2 to Parkinson disease.

Nkiliza A, Mutez E, Simonin C, Leprêtre F, Duflot A, Figeac M, Villenet C, Semaille P, Comptdaer T, Genet A, Sablonnière B, Devos D, Defebvre L, Destée A, Chartier-Harlin MC.

Neurobiol Dis. 2016 Dec;96:312-322. doi: 10.1016/j.nbd.2016.09.014. Epub 2016 Sep 20.

PMID:
27663142
4.

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

Marelli C, Guissart C, Hubsch C, Renaud M, Villemin JP, Larrieu L, Charles P, Ayrignac X, Sacconi S, Collignon P, Cuntz-Shadfar D, Perrin L, Benarrosh A, Degardin A, Lagha-Boukbiza O, Mutez E, Carlander B, Morales RJ, Gonzalez V, Carra-Dalliere C, Azakri S, Mignard C, Ollagnon E, Pageot N, Chretien D, Geny C, Azulay JP, Tranchant C, Claustres M, Labauge P, Anheim M, Goizet C, Calvas P, Koenig M.

Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2.

PMID:
27528516
5.

A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia.

Hainque E, Vidailhet M, Cozic N, Charbonnier-Beaupel F, Thobois S, Tranchant C, Brochard V, Glibert G, Drapier S, Mutez E, Doe De Maindreville A, Lebouvier T, Hubsch C, Degos B, Bonnet C, Grabli D, Legrand AP, Méneret A, Azulay JP, Bissery A, Zahr N, Clot F, Mallet A, Dupont S, Apartis E, Corvol JC, Roze E.

Neurology. 2016 May 3;86(18):1729-35. doi: 10.1212/WNL.0000000000002631. Epub 2016 Apr 6.

PMID:
27053715
6.

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.

Wang L, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschländer A, Eckstein G, Farrer MJ, Goldwurm S, Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Klein C, Jeon B, Kim YJ, Lesage S, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pihlstrøm L, Pramstaller PP, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Silburn PA, Theuns J, Tan EK, Tomiyama H, Toft M, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore DM, Krüger R, Sharma M; GEO-PD Consortium.

Neurology. 2015 Oct 13;85(15):1283-92. doi: 10.1212/WNL.0000000000002016. Epub 2015 Sep 9.

7.

[Continuous subcutaneous infusion of apomorphine in Parkinson's disease: retrospective analysis of a series of 81 patients].

Rambour M, Moreau C, Salleron J, Devos D, Kreisler A, Mutez E, Simonin C, Annic A, Dujardin K, Destée A, Defebvre L.

Rev Neurol (Paris). 2014 Mar;170(3):205-15. doi: 10.1016/j.neurol.2013.10.012. Epub 2014 Mar 1. French.

PMID:
24594365
8.

Involvement of the immune system, endocytosis and EIF2 signaling in both genetically determined and sporadic forms of Parkinson's disease.

Mutez E, Nkiliza A, Belarbi K, de Broucker A, Vanbesien-Mailliot C, Bleuse S, Duflot A, Comptdaer T, Semaille P, Blervaque R, Hot D, Leprêtre F, Figeac M, Destée A, Chartier-Harlin MC.

Neurobiol Dis. 2014 Mar;63:165-70. doi: 10.1016/j.nbd.2013.11.007. Epub 2013 Nov 20.

PMID:
24269915
9.

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.

Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium.

Neurobiol Aging. 2014 Jan;35(1):266.e5-14. doi: 10.1016/j.neurobiolaging.2013.07.013. Epub 2013 Aug 17.

10.

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.

Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.

Mov Disord. 2013 Oct;28(12):1740-4. doi: 10.1002/mds.25600. Epub 2013 Aug 2.

11.

Large-scale replication and heterogeneity in Parkinson disease genetic loci.

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

Neurology. 2012 Aug 14;79(7):659-67. doi: 10.1212/WNL.0b013e318264e353. Epub 2012 Jul 11.

12.

Translation initiator EIF4G1 mutations in familial Parkinson disease.

Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, Kreisler A, Ross OA, Nishioka K, Soto-Ortolaza AI, Cobb SA, Melrose HL, Behrouz B, Keeling BH, Bacon JA, Hentati E, Williams L, Yanagiya A, Sonenberg N, Lockhart PJ, Zubair AC, Uitti RJ, Aasly JO, Krygowska-Wajs A, Opala G, Wszolek ZK, Frigerio R, Maraganore DM, Gosal D, Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC, Pankratz N, Foroud T, Gibson RA, Hentati F, Dickson DW, Destée A, Farrer MJ.

Am J Hum Genet. 2011 Sep 9;89(3):398-406. doi: 10.1016/j.ajhg.2011.08.009.

13.

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium.

Lancet Neurol. 2011 Oct;10(10):898-908. doi: 10.1016/S1474-4422(11)70175-2. Epub 2011 Aug 30. Erratum in: Lancet Neurol. 2011 Oct;10(10):870.

14.

SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes.

Mutez E, Leprêtre F, Le Rhun E, Larvor L, Duflot A, Mouroux V, Kerckaert JP, Figeac M, Dujardin K, Destée A, Chartier-Harlin MC.

Hum Mutat. 2011 Apr;32(4):E2079-90. doi: 10.1002/humu.21459. Epub 2011 Feb 8.

PMID:
21412942
15.

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.

Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.

Ann Neurol. 2011 May;69(5):778-92. doi: 10.1002/ana.22321. Epub 2011 Mar 9.

16.

Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation.

Mutez E, Larvor L, Leprêtre F, Mouroux V, Hamalek D, Kerckaert JP, Pérez-Tur J, Waucquier N, Vanbesien-Mailliot C, Duflot A, Devos D, Defebvre L, Kreisler A, Frigard B, Destée A, Chartier-Harlin MC.

Neurobiol Aging. 2011 Oct;32(10):1839-48. doi: 10.1016/j.neurobiolaging.2009.10.016. Epub 2010 Jan 22.

PMID:
20096956
17.

[Parkinson disease: genetics and neuronal death].

Destée A, Mutez E, Kreisler A, Vanbesien-Maillot C, Chartier-Harlin MC.

Rev Neurol (Paris). 2009 Apr;165 Spec No 2:F80-5. Review. French. No abstract available.

PMID:
19593875
18.

Lipid-lowering drugs are associated with delayed onset and slower course of Parkinson's disease.

Mutez E, Duhamel A, Defebvre L, Bordet R, Destée A, Kreisler A.

Pharmacol Res. 2009 Jul;60(1):41-5. doi: 10.1016/j.phrs.2009.03.010. Epub 2009 Mar 20.

PMID:
19427584
19.

[Trichloroethylene intoxication presenting with temporal seizures].

Mutez E, Le Rhun E, Perriol MP, Soto Arès G, Pécheux N, Destée A, Defebvre L.

Rev Neurol (Paris). 2006 Dec;162(12):1248-51. French.

PMID:
17151517

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