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Cytochrome oxidase in health and disease.
Gene. 2002 Mar 6;286(1):53-63. doi: 10.1016/s0378-1119(01)00803-4.
Gene. 2002.
PMID: 11943460
Review.
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rötig A.
Valnot I, et al.
Hum Mol Genet. 2000 May 1;9(8):1245-9. doi: 10.1093/hmg/9.8.1245.
Hum Mol Genet. 2000.
PMID: 10767350
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Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rötig A.
Valnot I, et al.
Am J Hum Genet. 2000 Nov;67(5):1104-9. doi: 10.1016/S0002-9297(07)62940-1. Epub 2000 Sep 28.
Am J Hum Genet. 2000.
PMID: 11013136
Free PMC article.
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Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.
Williams SL, Valnot I, Rustin P, Taanman JW.
Williams SL, et al. Among authors: valnot i.
J Biol Chem. 2004 Feb 27;279(9):7462-9. doi: 10.1074/jbc.M309232200. Epub 2003 Nov 7.
J Biol Chem. 2004.
PMID: 14607829
Free article.
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A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency.
Valnot I, Kassis J, Chretien D, de Lonlay P, Parfait B, Munnich A, Kachaner J, Rustin P, Rötig A.
Valnot I, et al.
Hum Genet. 1999 Jun;104(6):460-6. doi: 10.1007/s004390050988.
Hum Genet. 1999.
PMID: 10453733
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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: valnot i.
Nat Genet. 2001 Sep;29(1):57-60. doi: 10.1038/ng706.
Nat Genet. 2001.
PMID: 11528392
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Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Amiel J, Gigarel N, Benacki A, Benit P, Valnot I, Parfait B, Von Kleist-Retzow JC, Raclin V, Hadj-Rabia S, Dumez Y, Rustin P, Bonnefont JP, Munnich A, Rötig A.
Amiel J, et al. Among authors: valnot i.
Prenat Diagn. 2001 Jul;21(7):602-4. doi: 10.1002/pd.126.
Prenat Diagn. 2001.
PMID: 11494300
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Screening human EST database for identification of candidate genes in respiratory chain deficiency.
Rötig A, Valnot I, Mugnier C, Rustin P, Munnich A.
Rötig A, et al. Among authors: valnot i.
Mol Genet Metab. 2000 Mar;69(3):223-32. doi: 10.1006/mgme.2000.2972.
Mol Genet Metab. 2000.
PMID: 10767177
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