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A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy.
Coulbault L, Deslandes B, Herlicoviez D, Read MH, Leporrier N, Schaeffer S, Mouadil A, Lombès A, Chapon F, Jauzac P, Allouche S. Coulbault L, et al. Among authors: lombes a. Biochem Biophys Res Commun. 2007 Oct 26;362(3):601-5. doi: 10.1016/j.bbrc.2007.08.040. Epub 2007 Aug 15. Biochem Biophys Res Commun. 2007. PMID: 17761147
Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.
Procaccio V, Mousson B, Beugnot R, Duborjal H, Feillet F, Putet G, Pignot-Paintrand I, Lombès A, De Coo R, Smeets H, Lunardi J, Issartel JP. Procaccio V, et al. Among authors: lombes a. J Clin Invest. 1999 Jul;104(1):83-92. doi: 10.1172/JCI6184. J Clin Invest. 1999. PMID: 10393702 Free PMC article.
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
Slama A, Lacroix C, Plante-Bordeneuve V, Lombès A, Conti M, Reimund JM, Auxenfants E, Crenn P, Laforêt P, Joannard A, Seguy D, Pillant H, Joly P, Haut S, Messing B, Said G, Legrand A, Guiochon-Mantel A. Slama A, et al. Among authors: lombes a. Mol Genet Metab. 2005 Apr;84(4):326-31. doi: 10.1016/j.ymgme.2004.12.004. Epub 2005 Jan 24. Mol Genet Metab. 2005. PMID: 15781193
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chrétien D, Kadhom N, Lombès A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rötig A. de Lonlay P, et al. Among authors: lombes a. Nat Genet. 2001 Sep;29(1):57-60. doi: 10.1038/ng706. Nat Genet. 2001. PMID: 11528392
182 results