207 related articles for article (PubMed ID: 21931168)
21. Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy.
Haginoya K; Miyabayashi S; Iinuma K; Okino E; Maesaka H; Tada K
Pediatr Neurol; 1992; 8(1):13-8. PubMed ID: 1313674
[TBL] [Abstract][Full Text] [Related]
22. 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; 329(3):1152-4. PubMed ID: 15752774
[TBL] [Abstract][Full Text] [Related]
23. Reversible infantile mitochondrial diseases.
Boczonadi V; Bansagi B; Horvath R
J Inherit Metab Dis; 2015 May; 38(3):427-35. PubMed ID: 25407320
[TBL] [Abstract][Full Text] [Related]
24. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Melchionda L; Haack TB; Hardy S; Abbink TE; Fernandez-Vizarra E; Lamantea E; Marchet S; Morandi L; Moggio M; Carrozzo R; Torraco A; Diodato D; Strom TM; Meitinger T; Tekturk P; Yapici Z; Al-Murshedi F; Stevens R; Rodenburg RJ; Lamperti C; Ardissone A; Moroni I; Uziel G; Prokisch H; Taylor RW; Bertini E; van der Knaap MS; Ghezzi D; Zeviani M
Am J Hum Genet; 2014 Sep; 95(3):315-25. PubMed ID: 25175347
[TBL] [Abstract][Full Text] [Related]
25. 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. PubMed ID: 9832034
[TBL] [Abstract][Full Text] [Related]
26. Reversible multiorgan system involvement in a neonate with complex IV deficiency.
Low E; Crushell EB; Harty SB; Ryan SP; Treacy EP
Pediatr Neurol; 2008 Nov; 39(5):368-70. PubMed ID: 18940565
[TBL] [Abstract][Full Text] [Related]
27. Reversible infantile respiratory chain deficiency: a clinical and molecular study.
Mimaki M; Hatakeyama H; Komaki H; Yokoyama M; Arai H; Kirino Y; Suzuki T; Nishino I; Nonaka I; Goto Y
Ann Neurol; 2010 Dec; 68(6):845-54. PubMed ID: 21194154
[TBL] [Abstract][Full Text] [Related]
28. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E; Berardinelli A; Valente L; Tiranti V; Zeviani M
J Med Genet; 2007 Mar; 44(3):173-80. PubMed ID: 17056637
[TBL] [Abstract][Full Text] [Related]
29. Isolated cytochrome c oxidase deficiency as a cause of MELAS.
Rossmanith W; Freilinger M; Roka J; Raffelsberger T; Moser-Thier K; Prayer D; Bernert G; Bittner RE
J Med Genet; 2008 Feb; 45(2):117-21. PubMed ID: 18245391
[TBL] [Abstract][Full Text] [Related]
30. 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
[TBL] [Abstract][Full Text] [Related]
31. Cytochrome c oxidase deficiency.
Shoubridge EA
Am J Med Genet; 2001; 106(1):46-52. PubMed ID: 11579424
[TBL] [Abstract][Full Text] [Related]
32. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
Debray FG; Morin C; Janvier A; Villeneuve J; Maranda B; Laframboise R; Lacroix J; Decarie JC; Robitaille Y; Lambert M; Robinson BH; Mitchell GA
J Med Genet; 2011 Mar; 48(3):183-9. PubMed ID: 21266382
[TBL] [Abstract][Full Text] [Related]
33. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.
Hanna MG; Nelson IP; Rahman S; Lane RJ; Land J; Heales S; Cooper MJ; Schapira AH; Morgan-Hughes JA; Wood NW
Am J Hum Genet; 1998 Jul; 63(1):29-36. PubMed ID: 9634511
[TBL] [Abstract][Full Text] [Related]
34. The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.
Hammans SR; Sweeney MG; Hanna MG; Brockington M; Morgan-Hughes JA; Harding AE
Brain; 1995 Jun; 118 ( Pt 3)():721-34. PubMed ID: 7600089
[TBL] [Abstract][Full Text] [Related]
35. A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
Rahman S; Taanman JW; Cooper JM; Nelson I; Hargreaves I; Meunier B; Hanna MG; García JJ; Capaldi RA; Lake BD; Leonard JV; Schapira AH
Am J Hum Genet; 1999 Oct; 65(4):1030-9. PubMed ID: 10486321
[TBL] [Abstract][Full Text] [Related]
36. A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
Invernizzi F; Tigano M; Dallabona C; Donnini C; Ferrero I; Cremonte M; Ghezzi D; Lamperti C; Zeviani M
Hum Mutat; 2013 Dec; 34(12):1619-22. PubMed ID: 24014394
[TBL] [Abstract][Full Text] [Related]
37. 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; 22(4):656-67. PubMed ID: 23125284
[TBL] [Abstract][Full Text] [Related]
38. A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease.
Uusimaa J; Finnilä S; Vainionpää L; Kärppä M; Herva R; Rantala H; Hassinen IE; Majamaa K
Pediatrics; 2003 Mar; 111(3):e262-8. PubMed ID: 12612282
[TBL] [Abstract][Full Text] [Related]
39. Autosomal recessive lethal infantile cytochrome C oxidase deficiency.
Eshel G; Lahat E; Fried K; Barr J; Barash V; Gutman A; DiMauro S; Aladjem M
Am J Dis Child; 1991 Jun; 145(6):661-4. PubMed ID: 1852096
[TBL] [Abstract][Full Text] [Related]
40. Cytochrome c oxidase deficiency.
DiMauro S; Lombes A; Nakase H; Mita S; Fabrizi GM; Tritschler HJ; Bonilla E; Miranda AF; DeVivo DC; Schon EA
Pediatr Res; 1990 Nov; 28(5):536-41. PubMed ID: 2175026
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
