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Molecular diagnostics of mitochondrial disorders.
Rötig A, Lebon S, Zinovieva E, Mollet J, Sarzi E, Bonnefont JP, Munnich A. Rötig A, et al. Among authors: lebon s. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):129-35. doi: 10.1016/j.bbabio.2004.07.007. Biochim Biophys Acta. 2004. PMID: 15576044 Review.
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.
Bouchet C, Steffann J, Corcos J, Monnot S, Paquis V, Rötig A, Lebon S, Levy P, Royer G, Giurgea I, Gigarel N, Benachi A, Dumez Y, Munnich A, Bonnefont JP. Bouchet C, et al. Among authors: lebon s. J Med Genet. 2006 Oct;43(10):788-92. doi: 10.1136/jmg.2005.034140. Epub 2006 May 11. J Med Genet. 2006. PMID: 16690729 Free PMC article.
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P. Bénit P, et al. Among authors: lebon s. J Med Genet. 2004 Jan;41(1):14-7. doi: 10.1136/jmg.2003.014316. J Med Genet. 2004. PMID: 14729820 Free PMC article.
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A. Chol M, et al. Among authors: lebon s. J Med Genet. 2003 Mar;40(3):188-91. doi: 10.1136/jmg.40.3.188. J Med Genet. 2003. PMID: 12624137 Free PMC article.
Respiratory-chain diseases related to complex III deficiency.
Bénit P, Lebon S, Rustin P. Bénit P, et al. Among authors: lebon s. Biochim Biophys Acta. 2009 Jan;1793(1):181-5. doi: 10.1016/j.bbamcr.2008.06.004. Epub 2008 Jun 13. Biochim Biophys Acta. 2009. PMID: 18601960 Review.
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