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Journal Abstract Search
176 related items for PubMed ID: 9029077
1. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Adams PL, Lightowlers RN, Turnbull DM. Ann Neurol; 1997 Feb; 41(2):268-70. PubMed ID: 9029077 [Abstract] [Full Text] [Related]
7. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA. Nat Genet; 1998 Dec; 20(4):337-43. PubMed ID: 9843204 [Abstract] [Full Text] [Related]
10. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA. Nat Genet; 1999 Nov; 23(3):333-7. PubMed ID: 10545952 [Abstract] [Full Text] [Related]
13. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis. Williams SL, Taanman JW, Hansíková H, Houst'ková H, Chowdhury S, Zeman J, Houstek J. Mol Genet Metab; 2001 Aug; 73(4):340-3. PubMed ID: 11509016 [Abstract] [Full Text] [Related]
15. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. de Vries DD, van Engelen BG, Gabreëls FJ, Ruitenbeek W, van Oost BA. Ann Neurol; 1993 Sep; 34(3):410-2. PubMed ID: 8395787 [Abstract] [Full Text] [Related]
16. Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy. Reichmann H, Scheel H, Bier B, Ketelsen UP, Zabransky S. Ann Neurol; 1992 Jan; 31(1):107-9. PubMed ID: 1311909 [Abstract] [Full Text] [Related]
17. Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Willems JL, Monnens LA, Trijbels JM, Veerkamp JH, Meyer AE, van Dam K, van Haelst U. Pediatrics; 1977 Dec; 60(6):850-7. PubMed ID: 202917 [Abstract] [Full Text] [Related]
18. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Coenen MJ, van den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, Trijbels FJ, Grivell LA, Smeitink JA. Biochem Biophys Res Commun; 1999 Nov 19; 265(2):339-44. PubMed ID: 10558868 [Abstract] [Full Text] [Related]
20. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. Barrientos A, Volpini V, Casademont J, Genís D, Manzanares JM, Ferrer I, Corral J, Cardellach F, Urbano-Márquez A, Estivill X, Nunes V. J Clin Invest; 1996 Apr 01; 97(7):1570-6. PubMed ID: 8601620 [Abstract] [Full Text] [Related] Page: [Next] [New Search]