146 related articles for article (PubMed ID: 14735157)
1. The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
Haut S; de Villemeur TB; Brivet M; Guiochon-Mantel A; Boutron A; Rustin P; Legrand A; Slama A
Eur J Hum Genet; 2004 Mar; 12(3):220-4. PubMed ID: 14735157
[TBL] [Abstract][Full Text] [Related]
2. A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.
Fragaki K; Procaccio V; Bannwarth S; Serre V; O'Hearn S; Potluri P; Augé G; Casagrande F; Caruba C; Lambert JC; Paquis-Flucklinger V
Mitochondrion; 2009 Sep; 9(5):346-52. PubMed ID: 19563916
[TBL] [Abstract][Full Text] [Related]
3. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.
Dumoulin R; Sagnol I; Ferlin T; Bozon D; Stepien G; Mousson B
Mol Cell Probes; 1996 Oct; 10(5):389-91. PubMed ID: 8910895
[TBL] [Abstract][Full Text] [Related]
4. Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
Blázquez A; Gil-Borlado MC; Morán M; Verdú A; Cazorla-Calleja MR; Martín MA; Arenas J; Ugalde C
Neuromuscul Disord; 2009 Feb; 19(2):143-6. PubMed ID: 19162478
[TBL] [Abstract][Full Text] [Related]
5. Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction.
Raha S; Merante F; Shoubridge E; Myint AT; Tein I; Benson L; Johns T; Robinson BH
Hum Mutat; 1999; 13(3):245-54. PubMed ID: 10090480
[TBL] [Abstract][Full Text] [Related]
6. Functional respiratory chain analyses in murid xenomitochondrial cybrids expose coevolutionary constraints of cytochrome b and nuclear subunits of complex III.
McKenzie M; Chiotis M; Pinkert CA; Trounce IA
Mol Biol Evol; 2003 Jul; 20(7):1117-24. PubMed ID: 12777531
[TBL] [Abstract][Full Text] [Related]
7. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
McFarland R; Clark KM; Morris AA; Taylor RW; Macphail S; Lightowlers RN; Turnbull DM
Nat Genet; 2002 Feb; 30(2):145-6. PubMed ID: 11799391
[TBL] [Abstract][Full Text] [Related]
8. Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.
Ballana E; Govea N; de Cid R; Garcia C; Arribas C; Rosell J; Estivill X
Hum Mutat; 2008 Feb; 29(2):248-57. PubMed ID: 17999439
[TBL] [Abstract][Full Text] [Related]
9. Evolution of interacting proteins in the mitochondrial electron transport system in a marine copepod.
Willett CS; Burton RS
Mol Biol Evol; 2004 Mar; 21(3):443-53. PubMed ID: 14660687
[TBL] [Abstract][Full Text] [Related]
10. Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
Taylor RW; Morris AA; Hutchinson M; Turnbull DM
Eur J Hum Genet; 2002 Feb; 10(2):141-4. PubMed ID: 11938446
[TBL] [Abstract][Full Text] [Related]
11. Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.
Vanniarajan A; Rajshekher GP; Joshi MB; Reddy AG; Singh L; Thangaraj K
Acta Neurol Scand; 2006 Nov; 114(5):350-3. PubMed ID: 17022785
[TBL] [Abstract][Full Text] [Related]
12. Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.
Kornblum C; Zsurka G; Wiesner RJ; Schröder R; Kunz WS
Biosci Rep; 2008 Apr; 28(2):89-96. PubMed ID: 18384291
[TBL] [Abstract][Full Text] [Related]
13. Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood.
Houshmand M; Gardner A; Hällström T; Müntzing K; Oldfors A; Holme E
Neuromuscul Disord; 2004 Mar; 14(3):195-201. PubMed ID: 15036329
[TBL] [Abstract][Full Text] [Related]
14. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
Kirby DM; Boneh A; Chow CW; Ohtake A; Ryan MT; Thyagarajan D; Thorburn DR
Ann Neurol; 2003 Oct; 54(4):473-8. PubMed ID: 14520659
[TBL] [Abstract][Full Text] [Related]
15. Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.
Pereira C; Nogueira C; Barbot C; Tessa A; Soares C; Fattori F; Guimarães A; Santorelli FM; Vilarinho L
Biochem Biophys Res Commun; 2007 Mar; 354(4):937-41. PubMed ID: 17266923
[TBL] [Abstract][Full Text] [Related]
16. Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b.
Li FY; Cuddon PA; Song J; Wood SL; Patterson JS; Shelton GD; Duncan ID
Neurobiol Dis; 2006 Jan; 21(1):35-42. PubMed ID: 16026996
[TBL] [Abstract][Full Text] [Related]
17. Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.
Bannwarth S; Procaccio V; Paquis-Flucklinger V
Hum Mutat; 2005 Jun; 25(6):575-82. PubMed ID: 15880407
[TBL] [Abstract][Full Text] [Related]
18. POLG1 mutations associated with progressive encephalopathy in childhood.
Kollberg G; Moslemi AR; Darin N; Nennesmo I; Bjarnadottir I; Uvebrant P; Holme E; Melberg A; Tulinius M; Oldfors A
J Neuropathol Exp Neurol; 2006 Aug; 65(8):758-68. PubMed ID: 16896309
[TBL] [Abstract][Full Text] [Related]
19. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.
Ueki I; Koga Y; Povalko N; Akita Y; Nishioka J; Yatsuga S; Fukiyama R; Matsuishi T
Mitochondrion; 2006 Feb; 6(1):29-36. PubMed ID: 16337222
[TBL] [Abstract][Full Text] [Related]
20. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
Slama A; Giurgea I; Debrey D; Bridoux D; de Lonlay P; Levy P; Chretien D; Brivet M; Legrand A; Rustin P; Munnich A; Rötig A
Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]