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The mtDNA NARP mutation activates the actin-Nrf2 signaling of antioxidant defenses.
Dassa EP, Paupe V, Gonçalves S, Rustin P. Dassa EP, et al. Biochem Biophys Res Commun. 2008 Apr 11;368(3):620-4. doi: 10.1016/j.bbrc.2008.01.125. Epub 2008 Feb 6. Biochem Biophys Res Commun. 2008. PMID: 18261463
Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.
Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Biochem Biophys Res Commun. 1992 Jul 15;186(1):16-23. doi: 10.1016/s0006-291x(05)80769-7. Biochem Biophys Res Commun. 1992. PMID: 1321601
The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.
Chretien D, Bourgeron T, Rötig A, Munnich A, Rustin P. Chretien D, et al. Biochem Biophys Res Commun. 1990 Nov 30;173(1):26-33. doi: 10.1016/s0006-291x(05)81016-2. Biochem Biophys Res Commun. 1990. PMID: 2256918
Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain.
Birch-Machin MA, Marsac C, Ponsot G, Parfait B, Taylor RW, Rustin P, Munnich A. Birch-Machin MA, et al. Biochem Biophys Res Commun. 1996 Mar 7;220(1):57-62. doi: 10.1006/bbrc.1996.0356. Biochem Biophys Res Commun. 1996. PMID: 8602857
Clinical presentations and laboratory investigations in respiratory chain deficiency.
Munnich A, Rötig A, Chretien D, Saudubray JM, Cormier V, Rustin P. Munnich A, et al. Eur J Pediatr. 1996 Apr;155(4):262-74. doi: 10.1007/BF02002711. Eur J Pediatr. 1996. PMID: 8777918 Review.
The consequences of a mild respiratory chain deficiency on substrate competitive oxidation in human mitochondria.
Geromel V, Parfait B, von Kleist-Retzow JC, Chretien D, Munnich A, Rötig A, Rustin P. Geromel V, et al. Biochem Biophys Res Commun. 1997 Jul 30;236(3):643-6. doi: 10.1006/bbrc.1997.7024. Biochem Biophys Res Commun. 1997. PMID: 9245705
Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes.
Chretien D, Gallego J, Barrientos A, Casademont J, Cardellach F, Munnich A, Rötig A, Rustin P. Chretien D, et al. Biochem J. 1998 Jan 15;329 ( Pt 2)(Pt 2):249-54. doi: 10.1042/bj3290249. Biochem J. 1998. PMID: 9425106 Free PMC article.
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Rabier D, Diry C, Rotig A, Rustin P, Heron B, Bardet J, Parvy P, Ponsot G, Marsac C, Saudubray JM, Munnich A, Kamoun P. Rabier D, et al. J Inherit Metab Dis. 1998 Jun;21(3):216-9. doi: 10.1023/a:1005391300203. J Inherit Metab Dis. 1998. PMID: 9686360 No abstract available.
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