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Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstruction.
Galmiche L, Jaubert F, Sauvat F, Sarnacki S, Goulet O, Assouline Z, Vedrenne V, Lebre AS, Boddaert N, Brousse N, Chrétien D, Munnich A, Rötig A. Galmiche L, et al. Among authors: boddaert n. Neurogastroenterol Motil. 2011 Jan;23(1):24-9, e1. doi: 10.1111/j.1365-2982.2010.01595.x. Epub 2010 Sep 14. Neurogastroenterol Motil. 2011. PMID: 20879992
[Congenital hyperinsulinism in newborn and infant].
Giurgea I, Ribeiro MJ, Boddaert N, Touati G, Robert JJ, Saudubray JM, Jaubert F, Bellanné-Chantelot C, Brunelle F, Nihoul-Fékété C, de Lonlay P. Giurgea I, et al. Among authors: boddaert n. Arch Pediatr. 2005 Nov;12(11):1628-35. doi: 10.1016/j.arcped.2005.07.016. Epub 2005 Sep 28. Arch Pediatr. 2005. PMID: 16198094 Review. French.
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Among authors: boddaert n. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L. Amiel J, et al. Among authors: boddaert n. Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436254 Free PMC article.
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.
Arnoux JB, Boddaert N, Valayannopoulos V, Romano S, Bahi-Buisson N, Desguerre I, de Keyzer Y, Munnich A, Brunelle F, Seta N, Dautzenberg MD, de Lonlay P. Arnoux JB, et al. Among authors: boddaert n. Mol Genet Metab. 2008 Apr;93(4):444-9. doi: 10.1016/j.ymgme.2007.11.006. Epub 2008 Feb 21. Mol Genet Metab. 2008. PMID: 18093857
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A. Mollet J, et al. Among authors: boddaert n. Am J Hum Genet. 2008 Mar;82(3):623-30. doi: 10.1016/j.ajhg.2007.12.022. Am J Hum Genet. 2008. PMID: 18319072 Free PMC article.
492 results