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Journal Abstract Search

112 related items for PubMed ID: 22592081

  • 1. High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.
    Vondrackova A, Vesela K, Hansikova H, Docekalova DZ, Rozsypalova E, Zeman J, Tesarova M.
    J Hum Genet; 2012 Jul; 57(7):442-8. PubMed ID: 22592081
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  • 2. 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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  • 6. Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency.
    Darin N, Moslemi AR, Lebon S, Rustin P, Holme E, Oldfors A, Tulinius M.
    Neuropediatrics; 2003 Dec; 34(6):311-7. PubMed ID: 14681757
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  • 7. Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
    Tay SK, Nesti C, Mancuso M, Schon EA, Shanske S, Bonilla E, Davidson MM, Dimauro S.
    Arch Neurol; 2004 Dec; 61(12):1935-7. PubMed ID: 15596615
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  • 8. Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.
    Vesela K, Hulkova H, Hansikova H, Zeman J, Elleder M.
    APMIS; 2008 Jan; 116(1):41-9. PubMed ID: 18254779
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  • 9. A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.
    Coulbault L, Herlicoviez D, Chapon F, Read MH, Penniello MJ, Reynier P, Fayet G, Lombès A, Jauzac P, Allouche S.
    Biochem Biophys Res Commun; 2005 Apr 15; 329(3):1152-4. PubMed ID: 15752774
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  • 10. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
    Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA.
    Hum Mol Genet; 2003 Oct 15; 12(20):2693-702. PubMed ID: 12928484
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  • 13. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
    Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Tylek-Lemanska D, Sykut-Cegielska J, Szymanska-Dembinska T, Bielecka L, Krajewska-Walasek M, Pronicka E.
    Eur J Paediatr Neurol; 2009 Mar 15; 13(2):146-53. PubMed ID: 18583168
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  • 14. Human cytochrome oxidase deficiency.
    Robinson BH.
    Pediatr Res; 2000 Nov 15; 48(5):581-5. PubMed ID: 11044474
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  • 15. Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.
    Coenen MJ, Smeitink JA, Pots JM, van Kaauwen E, Trijbels FJ, Hol FA, van den Heuvel LP.
    J Child Neurol; 2006 Jun 15; 21(6):508-11. PubMed ID: 16948936
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  • 16. Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast.
    Reinhold R, Bareth B, Balleininger M, Wissel M, Rehling P, Mick DU.
    Hum Mol Genet; 2011 Jun 15; 20(12):2379-93. PubMed ID: 21470975
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  • 17. High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Er TK, Liang WC, Chang JG, Jong YJ.
    Clin Chim Acta; 2010 May 02; 411(9-10):690-9. PubMed ID: 20138856
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  • 18. Genetic defects of cytochrome c oxidase assembly.
    Pecina P, Houstková H, Hansíková H, Zeman J, Houstek J.
    Physiol Res; 2004 May 02; 53 Suppl 1():S213-23. PubMed ID: 15119951
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  • 20. Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.
    van Riesen AK, Antonicka H, Ohlenbusch A, Shoubridge EA, Wilichowski EK.
    Neuropediatrics; 2006 Apr 02; 37(2):88-94. PubMed ID: 16773507
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