146 related articles for article (PubMed ID: 14735157)
21. Diagnostic challenges of mitochondrial DNA disorders.
Wong LJ
Mitochondrion; 2007; 7(1-2):45-52. PubMed ID: 17276740
[TBL] [Abstract][Full Text] [Related]
22. Role-reversal of gender-associated mitochondrial DNA affects mitochondrial function in Mytilus edulis (Bivalvia: Mytilidae).
Breton S; Stewart DT; Blier PU
J Exp Zool B Mol Dev Evol; 2009 Mar; 312(2):108-17. PubMed ID: 19097171
[TBL] [Abstract][Full Text] [Related]
23. Impact of the mitochondrial genetic background in complex III deficiency.
Gil Borlado MC; Moreno Lastres D; Gonzalez Hoyuela M; Moran M; Blazquez A; Pello R; Marin Buera L; Gabaldon T; Garcia Peñas JJ; Martín MA; Arenas J; Ugalde C
PLoS One; 2010 Sep; 5(9):. PubMed ID: 20862300
[TBL] [Abstract][Full Text] [Related]
24. CD4+ T-cell response to mitochondrial cytochrome B in human melanoma.
Voo KS; Zeng G; Mu JB; Zhou J; Su XZ; Wang RF
Cancer Res; 2006 Jun; 66(11):5919-26. PubMed ID: 16740732
[TBL] [Abstract][Full Text] [Related]
25. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Odièvre MH; Chretien D; Munnich A; Robinson BH; Dumoulin R; Masmoudi S; Kadhom N; Rötig A; Rustin P; Bonnefont JP
Hum Mutat; 2005 Mar; 25(3):323-4. PubMed ID: 15712224
[TBL] [Abstract][Full Text] [Related]
26. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
Kollberg G; Tulinius M; Melberg A; Darin N; Andersen O; Holmgren D; Oldfors A; Holme E
Brain; 2009 Aug; 132(Pt 8):2170-9. PubMed ID: 19567699
[TBL] [Abstract][Full Text] [Related]
27. A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI; Hogeveen M; Nijtmans LG; van den Brand MA; Janssen AJ; Diepstra JH; van den Brandt FC; van den Heuvel LP; Hol FA; Hofste TG; Kapusta L; Dillmann U; Shamdeen MG; Smeitink JA; Rodenburg RJ
J Med Genet; 2008 Mar; 45(3):129-33. PubMed ID: 17954552
[TBL] [Abstract][Full Text] [Related]
28. A patient with two mitochondrial DNA mutations causing PEO and LHON.
Melberg A; Moslemi AR; Palm O; Raininko R; Stålberg E; Oldfors A
Eur J Med Genet; 2009; 52(1):47-8. PubMed ID: 19015050
[TBL] [Abstract][Full Text] [Related]
29. Does strong hypertrophic condition induce fast mitochondrial DNA mutation of rabbit heart?
Kim T; Thu VT; Han IY; Youm JB; Kim E; Kang SW; Kim YW; Lee JH; Joo H
Mitochondrion; 2008 Jun; 8(3):279-83. PubMed ID: 18467192
[TBL] [Abstract][Full Text] [Related]
30. Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.
Bortot B; Barbi E; Biffi S; Lunazzi G; Bussani R; Burlina A; Norbedo S; Ventura A; Carrozzi M; Severini GM
Dig Liver Dis; 2009 Jul; 41(7):494-9. PubMed ID: 19195941
[TBL] [Abstract][Full Text] [Related]
31. An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.
Gasparre G; Iommarini L; Porcelli AM; Lang M; Ferri GG; Kurelac I; Zuntini R; Mariani E; Pennisi LF; Pasquini E; Pasquinelli G; Ghelli A; Bonora E; Ceccarelli C; Rugolo M; Salfi N; Romeo G; Carelli V
Hum Mutat; 2009 Mar; 30(3):391-6. PubMed ID: 19086058
[TBL] [Abstract][Full Text] [Related]
32. Phenotypic variations in 3 children with POLG1 mutations.
Burusnukul P; de los Reyes EC
J Child Neurol; 2009 Apr; 24(4):482-6. PubMed ID: 19189930
[TBL] [Abstract][Full Text] [Related]
33. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.
Blakely EL; Mitchell AL; Fisher N; Meunier B; Nijtmans LG; Schaefer AM; Jackson MJ; Turnbull DM; Taylor RW
FEBS J; 2005 Jul; 272(14):3583-92. PubMed ID: 16008558
[TBL] [Abstract][Full Text] [Related]
34. A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.
Möllers M; Maniura-Weber K; Kiseljakovic E; Bust M; Hayrapetyan A; Jaksch M; Helm M; Wiesner RJ; von Kleist-Retzow JC
Nucleic Acids Res; 2005; 33(17):5647-58. PubMed ID: 16199753
[TBL] [Abstract][Full Text] [Related]
35. Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome.
Limongelli A; Schaefer J; Jackson S; Invernizzi F; Kirino Y; Suzuki T; Reichmann H; Zeviani M
J Med Genet; 2004 May; 41(5):342-9. PubMed ID: 15121771
[TBL] [Abstract][Full Text] [Related]
36. Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice.
Edgar D; Shabalina I; Camara Y; Wredenberg A; Calvaruso MA; Nijtmans L; Nedergaard J; Cannon B; Larsson NG; Trifunovic A
Cell Metab; 2009 Aug; 10(2):131-8. PubMed ID: 19656491
[TBL] [Abstract][Full Text] [Related]
37. The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons.
Janssen GM; Hensbergen PJ; van Bussel FJ; Balog CI; Maassen JA; Deelder AM; Raap AK
Hum Mol Genet; 2007 Oct; 16(20):2472-81. PubMed ID: 17656376
[TBL] [Abstract][Full Text] [Related]
38. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.
Scaglia F; Towbin JA; Craigen WJ; Belmont JW; Smith EO; Neish SR; Ware SM; Hunter JV; Fernbach SD; Vladutiu GD; Wong LJ; Vogel H
Pediatrics; 2004 Oct; 114(4):925-31. PubMed ID: 15466086
[TBL] [Abstract][Full Text] [Related]
39. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
Tucker EJ; Wanschers BF; Szklarczyk R; Mountford HS; Wijeyeratne XW; van den Brand MA; Leenders AM; Rodenburg RJ; Reljić B; Compton AG; Frazier AE; Bruno DL; Christodoulou J; Endo H; Ryan MT; Nijtmans LG; Huynen MA; Thorburn DR
PLoS Genet; 2013; 9(12):e1004034. PubMed ID: 24385928
[TBL] [Abstract][Full Text] [Related]
40. Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation.
Tarnopolsky MA; Simon DK; Roy BD; Chorneyko K; Lowther SA; Johns DR; Sandhu JK; Li Y; Sikorska M
Muscle Nerve; 2004 Apr; 29(4):537-47. PubMed ID: 15052619
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]