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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L. Valence S, et al. Among authors: cochet e. Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997391 Free article.
Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.
Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia MT, Sheykholeslami S, Le Borgne G, Dastot-Le Moal F, Malan V, Karabina S, Mahevas M, Chantot-Bastaraud S, Lecron JC, Faivre L, Amselem S. Jéru I, et al. Among authors: cochet e. Arthritis Rheumatol. 2014 Sep;66(9):2621-7. doi: 10.1002/art.38727. Arthritis Rheumatol. 2014. PMID: 24891336
Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder.
Jéru I, Marlin S, Le Borgne G, Cochet E, Normand S, Duquesnoy P, Dastot-Le Moal F, Cuisset L, Hentgen V, Fernandes Alnemri T, Lecron JC, Dhote R, Grateau G, Alnemri ES, Amselem S. Jéru I, et al. Among authors: cochet e. Arthritis Rheum. 2010 Apr;62(4):1176-85. doi: 10.1002/art.27326. Arthritis Rheum. 2010. PMID: 20131254 Free article.
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.
Masters SL, Lagou V, Jéru I, Baker PJ, Van Eyck L, Parry DA, Lawless D, De Nardo D, Garcia-Perez JE, Dagley LF, Holley CL, Dooley J, Moghaddas F, Pasciuto E, Jeandel PY, Sciot R, Lyras D, Webb AI, Nicholson SE, De Somer L, van Nieuwenhove E, Ruuth-Praz J, Copin B, Cochet E, Medlej-Hashim M, Megarbane A, Schroder K, Savic S, Goris A, Amselem S, Wouters C, Liston A. Masters SL, et al. Among authors: cochet e. Sci Transl Med. 2016 Mar 30;8(332):332ra45. doi: 10.1126/scitranslmed.aaf1471. Sci Transl Med. 2016. PMID: 27030597 Free article.
29 results