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20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, Jost B, Gérard B, Peoc'h K, Launay JM, Faivre L, Mandel JL. Piton A, et al. Eur J Hum Genet. 2014 Jun;22(6):776-83. doi: 10.1038/ejhg.2013.243. Epub 2013 Oct 30. Eur J Hum Genet. 2014. PMID: 24169519 Free PMC article.
Smoking related diseases: the central role of monoamine oxidase.
Rendu F, Peoc'h K, Berlin I, Thomas D, Launay JM. Rendu F, et al. Int J Environ Res Public Health. 2011 Jan;8(1):136-47. doi: 10.3390/ijerph8010136. Epub 2011 Jan 14. Int J Environ Res Public Health. 2011. PMID: 21318020 Free PMC article. Review.
Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders.
Peoc'h K, Levavasseur E, Delmont E, De Simone A, Laffont-Proust I, Privat N, Chebaro Y, Chapuis C, Bedoucha P, Brandel JP, Laquerriere A, Kemeny JL, Hauw JJ, Borg M, Rezaei H, Derreumaux P, Laplanche JL, Haïk S. Peoc'h K, et al. Hum Mol Genet. 2012 Dec 15;21(26):5417-28. doi: 10.1093/hmg/dds377. Epub 2012 Sep 10. Hum Mol Genet. 2012. PMID: 22965875
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
Oustric V, Manceau H, Ducamp S, Soaid R, Karim Z, Schmitt C, Mirmiran A, Peoc'h K, Grandchamp B, Beaumont C, Lyoumi S, Moreau-Gaudry F, Guyonnet-Dupérat V, de Verneuil H, Marie J, Puy H, Deybach JC, Gouya L. Oustric V, et al. Am J Hum Genet. 2014 Apr 3;94(4):611-7. doi: 10.1016/j.ajhg.2014.02.010. Epub 2014 Mar 27. Am J Hum Genet. 2014. PMID: 24680888 Free PMC article.
169 results