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Page 1
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.
Blasco H, Bernard-Marissal N, Vourc'h P, Guettard YO, Sunyach C, Augereau O, Khederchah J, Mouzat K, Antar C, Gordon PH, Veyrat-Durebex C, Besson G, Andersen PM, Salachas F, Meininger V, Camu W, Pettmann B, Andres CR, Corcia P; French ALS Study Group. Blasco H, et al. Among authors: mouzat k. Hum Mutat. 2013 Jul;34(7):953-60. doi: 10.1002/humu.22329. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23568759
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.
Corcia P, Valdmanis P, Millecamps S, Lionnet C, Blasco H, Mouzat K, Daoud H, Belzil V, Morales R, Pageot N, Danel-Brunaud V, Vandenberghe N, Pradat PF, Couratier P, Salachas F, Lumbroso S, Rouleau GA, Meininger V, Camu W. Corcia P, et al. Among authors: mouzat k. Neurology. 2012 May 8;78(19):1519-26. doi: 10.1212/WNL.0b013e3182553c88. Epub 2012 Apr 25. Neurology. 2012. PMID: 22539580
Liver X Receptor Genes Variants Modulate ALS Phenotype.
Mouzat K, Molinari N, Kantar J, Polge A, Corcia P, Couratier P, Clavelou P, Juntas-Morales R, Pageot N, Lobaccaro J-A, Raoul C, Lumbroso S, Camu W. Mouzat K, et al. Mol Neurobiol. 2018 Mar;55(3):1959-1965. doi: 10.1007/s12035-017-0453-2. Epub 2017 Feb 27. Mol Neurobiol. 2018. PMID: 28244008
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: mouzat k. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Theme 4 In vivo experimental models.
Chudinova AV, Rossel M, Vergunst A, Le-Masson G, Camu W, Raoul C, Lumbroso S, Mouzat K. Chudinova AV, et al. Among authors: mouzat k. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(sup1):160-187. doi: 10.1080/21678421.2019.1646992. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 31702459
Pre-symptomatic diagnosis in ALS.
Corcia P, Lumbroso S, Cazeneuve C, Mouzat K, Camu W, Vourc'h P; on Behalf the FILSLAN network. Corcia P, et al. Among authors: mouzat k. Rev Neurol (Paris). 2020 Mar;176(3):166-169. doi: 10.1016/j.neurol.2019.07.027. Epub 2020 Jan 10. Rev Neurol (Paris). 2020. PMID: 31932031
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
Muratet F, Teyssou E, Chiot A, Boillée S, Lobsiger CS, Bohl D, Gyorgy B, Guegan J, Marie Y, Amador MDM, Salachas F, Meininger V, Bernard E, Antoine JC, Camdessanché JP, Camu W, Cazeneuve C, Fauret-Amsellem AL, Leguern E, Mouzat K, Guissart C, Lumbroso S, Corcia P, Vourc'h P, Grapperon AM, Attarian S, Verschueren A, Seilhean D, Millecamps S. Muratet F, et al. Among authors: mouzat k. J Neurol Neurosurg Psychiatry. 2021 Sep;92(9):942-949. doi: 10.1136/jnnp-2020-325921. Epub 2021 Mar 30. J Neurol Neurosurg Psychiatry. 2021. PMID: 33785574
52 results