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Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Cottenie E, et al. Among authors: chabrol e. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439726 Free PMC article.
Neural ECM and epilepsy.
Pitkänen A, Ndode-Ekane XE, Łukasiuk K, Wilczynski GM, Dityatev A, Walker MC, Chabrol E, Dedeurwaerdere S, Vazquez N, Powell EM. Pitkänen A, et al. Among authors: chabrol e. Prog Brain Res. 2014;214:229-62. doi: 10.1016/B978-0-444-63486-3.00011-6. Prog Brain Res. 2014. PMID: 25410361 Review.
Screening of OPTN in French familial amyotrophic lateral sclerosis.
Millecamps S, Boillée S, Chabrol E, Camu W, Cazeneuve C, Salachas F, Pradat PF, Danel-Brunaud V, Vandenberghe N, Corcia P, Le Forestier N, Lacomblez L, Bruneteau G, Seilhean D, Brice A, Feingold J, Meininger V, LeGuern E. Millecamps S, et al. Among authors: chabrol e. Neurobiol Aging. 2011 Mar;32(3):557.e11-3. doi: 10.1016/j.neurobiolaging.2010.11.005. Epub 2011 Jan 8. Neurobiol Aging. 2011. PMID: 21220178
The matrix metalloproteinase inhibitor IPR-179 has antiseizure and antiepileptogenic effects.
Broekaart DW, Bertran A, Jia S, Korotkov A, Senkov O, Bongaarts A, Mills JD, Anink JJ, Seco J, Baayen JC, Idema S, Chabrol E, Becker AJ, Wadman WJ, Tarragó T, Gorter JA, Aronica E, Prades R, Dityatev A, van Vliet EA. Broekaart DW, et al. Among authors: chabrol e. J Clin Invest. 2021 Jan 4;131(1):e138332. doi: 10.1172/JCI138332. J Clin Invest. 2021. PMID: 33141761 Free PMC article.
94 results