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Gaucher disease.
Mignot C, Gelot A, De Villemeur TB. Mignot C, et al. Handb Clin Neurol. 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. Handb Clin Neurol. 2013. PMID: 23622393 Review.
Perinatal-lethal Gaucher disease.
Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T. Mignot C, et al. Am J Med Genet A. 2003 Jul 30;120A(3):338-44. doi: 10.1002/ajmg.a.20117. Am J Med Genet A. 2003. PMID: 12838552
[Fetal neurology: conditions of diagnostic uncertainty].
Moutard ML, Gélot A, Rodriguez D, Guët A, Mignot C, Ponsot G, Billette de Villemeur T. Moutard ML, et al. Among authors: mignot c. Arch Pediatr. 2006 Jun;13(6):825-7. doi: 10.1016/j.arcped.2006.03.128. Epub 2006 May 12. Arch Pediatr. 2006. PMID: 16698255 French. No abstract available.
Herpes simplex virus encephalitis in human UNC-93B deficiency.
Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, Alcais A, Picard C, Mahfoufi N, Nicolas N, Lorenzo L, Plancoulaine S, Sénéchal B, Geissmann F, Tabeta K, Hoebe K, Du X, Miller RL, Héron B, Mignot C, de Villemeur TB, Lebon P, Dulac O, Rozenberg F, Beutler B, Tardieu M, Abel L, Casanova JL. Casrouge A, et al. Among authors: mignot c. Science. 2006 Oct 13;314(5797):308-12. doi: 10.1126/science.1128346. Epub 2006 Sep 14. Science. 2006. PMID: 16973841
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D. Afenjar A, et al. Among authors: mignot c. Brain Dev. 2007 Oct;29(9):547-52. doi: 10.1016/j.braindev.2007.01.008. Epub 2007 Apr 6. Brain Dev. 2007. PMID: 17412540
276 results