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A potential patient stratification biomarker for Parkinson´s disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells.
Naaldijk Y, Fernández B, Fasiczka R, Fdez E, Leghay C, Croitoru I, Kwok JB, Boulesnane Y, Vizeneux A, Mutez E, Calvez C, Destée A, Taymans JM, Aragon AV, Yarza AB, Padmanabhan S, Delgado M, Alcalay RN, Chatterton Z, Dzamko N, Halliday G, Ruiz-Martínez J, Chartier-Harlin MC, Hilfiker S. Naaldijk Y, et al. Among authors: mutez e. NPJ Parkinsons Dis. 2024 Jan 8;10(1):12. doi: 10.1038/s41531-023-00624-8. NPJ Parkinsons Dis. 2024. PMID: 38191886 Free PMC article.
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. Sharma M, et al. Neurology. 2012 Aug 14;79(7):659-67. doi: 10.1212/WNL.0b013e318264e353. Epub 2012 Jul 11. Neurology. 2012. PMID: 22786590 Free PMC article.
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease. Boot E, et al. Among authors: mutez e. Neurology. 2018 Jun 5;90(23):e2059-e2067. doi: 10.1212/WNL.0000000000005660. Epub 2018 May 11. Neurology. 2018. PMID: 29752303 Free PMC article.
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. Marelli C, et al. Among authors: mutez e. Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2. Hum Mutat. 2016. PMID: 27528516
[Parkinson disease: genetics and neuronal death].
Destée A, Mutez E, Kreisler A, Vanbesien-Maillot C, Chartier-Harlin MC. Destée A, et al. Among authors: mutez e. Rev Neurol (Paris). 2009 Apr;165 Spec No 2:F80-5. Rev Neurol (Paris). 2009. PMID: 19593875 Review. French. No abstract available.
53 results