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Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D. Gras D, et al. Among authors: epaud r. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24. J Neurol Neurosurg Psychiatry. 2012. PMID: 22832740
Lung alveolar epithelium and interstitial lung disease.
Corvol H, Flamein F, Epaud R, Clement A, Guillot L. Corvol H, et al. Among authors: epaud r. Int J Biochem Cell Biol. 2009 Aug-Sep;41(8-9):1643-51. doi: 10.1016/j.biocel.2009.02.009. Epub 2009 Feb 23. Int J Biochem Cell Biol. 2009. PMID: 19433305 Review.
New surfactant protein C gene mutations associated with diffuse lung disease.
Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D. Guillot L, et al. Among authors: epaud r. J Med Genet. 2009 Jul;46(7):490-4. doi: 10.1136/jmg.2009.066829. Epub 2009 May 13. J Med Genet. 2009. PMID: 19443464 Free article.
Characteristics of disorders associated with genetic mutations of surfactant protein C.
Thouvenin G, Abou Taam R, Flamein F, Guillot L, Le Bourgeois M, Reix P, Fayon M, Counil F, Depontbriand U, Feldmann D, Pointe HD, de Blic J, Clement A, Epaud R. Thouvenin G, et al. Among authors: epaud r. Arch Dis Child. 2010 Jun;95(6):449-54. doi: 10.1136/adc.2009.171553. Epub 2010 Apr 19. Arch Dis Child. 2010. PMID: 20403820
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Brémont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L. Flamein F, et al. Among authors: epaud r. Hum Mol Genet. 2012 Feb 15;21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7. Hum Mol Genet. 2012. PMID: 22068586 Free PMC article.
[Genetic disorders of surfactant].
Epaud R, Jonard L, Ducou-le-Pointe H, Delestrain C, Fanen P, Guillot L, Flamein F. Epaud R, et al. Arch Pediatr. 2012 Feb;19(2):212-9. doi: 10.1016/j.arcped.2011.12.004. Epub 2012 Jan 9. Arch Pediatr. 2012. PMID: 22236549 Review. French.
142 results