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907 related items for PubMed ID: 16542579
21. 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]
23. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. Tulinius M, Moslemi AR, Darin N, Westerberg B, Wiklund LM, Holme E, Oldfors A. Neuropediatrics; 2003 Apr; 34(2):87-91. PubMed ID: 12776230 [Abstract] [Full Text] [Related]
30. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome. Maalej M, Kammoun T, Alila-Fersi O, Kharrat M, Ammar M, Felhi R, Mkaouar-Rebai E, Keskes L, Hachicha M, Fakhfakh F. Biochem Biophys Res Commun; 2018 Mar 18; 497(4):1043-1048. PubMed ID: 29481804 [Abstract] [Full Text] [Related]
36. 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]