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Journal Abstract Search

231 related items for PubMed ID: 26685157

  • 1.
    ; . PubMed ID:
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  • 2. Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
    Kovářová N, Cížková Vrbacká A, Pecina P, Stránecký V, Pronicka E, Kmoch S, Houštěk J.
    Biochim Biophys Acta; 2012 Jul; 1822(7):1114-24. PubMed ID: 22465034
    [Abstract] [Full Text] [Related]

  • 3. 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
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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
    [Abstract] [Full Text] [Related]

  • 5. Cytochrome c oxidase deficiency.
    Shoubridge EA.
    Am J Med Genet; 2001 May; 106(1):46-52. PubMed ID: 11579424
    [Abstract] [Full Text] [Related]

  • 6. Human cytochrome oxidase deficiency.
    Robinson BH.
    Pediatr Res; 2000 Nov; 48(5):581-5. PubMed ID: 11044474
    [Abstract] [Full Text] [Related]

  • 7. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
    Poyau A, Buchet K, Bouzidi MF, Zabot MT, Echenne B, Yao J, Shoubridge EA, Godinot C.
    Hum Genet; 2000 Feb; 106(2):194-205. PubMed ID: 10746561
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].
    Capková M, Hansíková H, Godinot C, Houst'ková H, Houstĕk J, Zeman J.
    Cas Lek Cesk; 2002 Oct 11; 141(20):636-41. PubMed ID: 12515039
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity.
    Mani S, Chandak GR, Singh KK, Singh R, Rao SN.
    Mitochondrion; 2020 Jul 15; 53():91-98. PubMed ID: 32380162
    [Abstract] [Full Text] [Related]

  • 12. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
    Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP.
    Hum Mol Genet; 2013 Feb 15; 22(4):656-67. PubMed ID: 23125284
    [Abstract] [Full Text] [Related]

  • 13. [Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].
    Monnot S, Chabrol B, Cano A, Pellissier JF, Collignon P, Montfort MF, Paquis-Flucklinger V.
    Arch Pediatr; 2005 May 15; 12(5):568-71. PubMed ID: 15885549
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 34(2):87-91. PubMed ID: 12776230
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 20(4):337-43. PubMed ID: 9843204
    [Abstract] [Full Text] [Related]

  • 16. Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.
    Sonam K, Khan NA, Bindu PS, Taly AB, Gayathri N, Bharath MM, Govindaraju C, Arvinda HR, Nagappa M, Sinha S, Thangaraj K.
    Brain Dev; 2014 Oct 15; 36(9):807-12. PubMed ID: 24262866
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.
    Pequignot MO, Desguerre I, Dey R, Tartari M, Zeviani M, Agostino A, Benelli C, Fouque F, Prip-Buus C, Marchant D, Abitbol M, Marsac C.
    J Biol Chem; 2001 May 04; 276(18):15326-9. PubMed ID: 11279059
    [Abstract] [Full Text] [Related]

  • 19. Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A.
    Rotko D, Kudin AP, Zsurka G, Kulawiak B, Szewczyk A, Kunz WS.
    Biochemistry (Mosc); 2021 Jan 04; 86(1):33-43. PubMed ID: 33705280
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