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Results: 1 to 20 of 94

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. doi: 10.1038/jhg.2012.49. Epub 2012 May 17.

PMID:
22592081
[PubMed - indexed for MEDLINE]
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.

PMID:
11317352
[PubMed - indexed for MEDLINE]
3.

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Müller-Höcker J, Jedele KB, Meitinger T, Gerbitz KD.

J Med Genet. 1998 Nov;35(11):895-900.

PMID:
9832034
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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;59(1):21-6. Epub 2005 Dec 2.

PMID:
16326995
[PubMed - indexed for MEDLINE]
5.

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M.

Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002. Epub 2008 May 22.

PMID:
18499082
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
10545952
[PubMed - indexed for MEDLINE]
7.

Mutation screening in patients with isolated cytochrome c oxidase deficiency.

Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S.

Pediatr Res. 2003 Feb;53(2):224-30.

PMID:
12538779
[PubMed - indexed for MEDLINE]
8.

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.

Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y.

Hum Genet. 1999 Dec;105(6):560-3.

PMID:
10647889
[PubMed - indexed for MEDLINE]
9.

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;21(6):508-11.

PMID:
16948936
[PubMed - indexed for MEDLINE]
10.

Cytochrome c oxidase deficiency.

Shoubridge EA.

Am J Med Genet. 2001 Spring;106(1):46-52. Review.

PMID:
11579424
[PubMed - indexed for MEDLINE]
11.

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. doi: 10.1016/j.bbadis.2012.03.007. Epub 2012 Mar 20.

PMID:
22465034
[PubMed - indexed for MEDLINE]
Free Article
12.

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.

PMID:
10746561
[PubMed - indexed for MEDLINE]
13.

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. Review.

PMID:
14681757
[PubMed - indexed for MEDLINE]
14.

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.

Parfait B, Percheron A, Chretien D, Rustin P, Munnich A, Rötig A.

Hum Genet. 1997 Dec;101(2):247-50.

PMID:
9402980
[PubMed - indexed for MEDLINE]
15.

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.

Sacconi S, Salviati L, Trevisson E.

J Hum Genet. 2009 Jul;54(7):419-21. doi: 10.1038/jhg.2009.36. Epub 2009 Apr 17.

PMID:
19373256
[PubMed - indexed for MEDLINE]
16.

Genetic defects of cytochrome c oxidase assembly.

Pecina P, Houstková H, Hansíková H, Zeman J, Houstek J.

Physiol Res. 2004;53 Suppl 1:S213-23. Review.

PMID:
15119951
[PubMed - indexed for MEDLINE]
Free Article
17.

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rötig A.

Hum Mol Genet. 2000 May 1;9(8):1245-9.

PMID:
10767350
[PubMed - indexed for MEDLINE]
Free Article
18.

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.

PMID:
15596615
[PubMed - indexed for MEDLINE]
19.

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M.

J Med Genet. 2005 May;42(5):e28.

PMID:
15863660
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Structural organization and transcription regulation of nuclear genes encoding the mammalian cytochrome c oxidase complex.

Lenka N, Vijayasarathy C, Mullick J, Avadhani NG.

Prog Nucleic Acid Res Mol Biol. 1998;61:309-44. Review.

PMID:
9752724
[PubMed - indexed for MEDLINE]

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