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Journal Abstract Search

501 related items for PubMed ID: 10545952

  • 1. 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
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  • 2. Cytochrome c oxidase deficiency.
    Shoubridge EA.
    Am J Med Genet; 2001 Nov; 106(1):46-52. PubMed ID: 11579424
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  • 3. Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
    Tay SK, Shanske S, Kaplan P, DiMauro S.
    Arch Neurol; 2004 Jun; 61(6):950-2. PubMed ID: 15210538
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  • 4. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
    Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C.
    Hum Mutat; 2001 May; 17(5):374-81. PubMed ID: 11317352
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  • 5. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.
    Horvath R, Lochmüller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M.
    Biochem Biophys Res Commun; 2000 Sep 24; 276(2):530-3. PubMed ID: 11027508
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  • 6. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
    Sue CM, Karadimas C, Checcarelli N, Tanji K, Papadopoulou LC, Pallotti F, Guo FL, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S.
    Ann Neurol; 2000 May 24; 47(5):589-95. PubMed ID: 10805329
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  • 13. Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.
    Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J.
    Pediatr Res; 2006 Jan 24; 59(1):21-6. PubMed ID: 16326995
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  • 15. Human cytochrome oxidase deficiency.
    Robinson BH.
    Pediatr Res; 2000 Nov 24; 48(5):581-5. PubMed ID: 11044474
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  • 16. 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
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  • 17. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.
    Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H.
    Hum Mol Genet; 2001 Dec 15; 10(26):3025-35. PubMed ID: 11751685
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