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Items: 1 to 20 of 99

1.

Mitochondrial disorders.

Zeviani M, Di Donato S.

Brain. 2004 Oct;127(Pt 10):2153-72. Epub 2004 Sep 9. Review. Erratum in: Brain. 2004 Dec;127(Pt 12):2783.

PMID:
15358637
2.
3.

Mitochondrial diseases.

DiMauro S.

Biochim Biophys Acta. 2004 Jul 23;1658(1-2):80-8. Review.

4.

Mitochondrial DNA and disease.

Greaves LC, Reeve AK, Taylor RW, Turnbull DM.

J Pathol. 2012 Jan;226(2):274-86. doi: 10.1002/path.3028. Epub 2011 Nov 21. Review.

PMID:
21989606
5.

Mitochondrial DNA mutations and depletion in pediatric medicine.

Spinazzola A.

Semin Fetal Neonatal Med. 2011 Aug;16(4):190-6. doi: 10.1016/j.siny.2011.04.011. Epub 2011 Jun 8. Review.

PMID:
21652274
6.

Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

Diaz F, Kotarsky H, Fellman V, Moraes CT.

Semin Fetal Neonatal Med. 2011 Aug;16(4):197-204. doi: 10.1016/j.siny.2011.05.004. Epub 2011 Jun 15. Review.

7.

Mitochondrial disorders due to nuclear OXPHOS gene defects.

Ugalde C, Morán M, Blázquez A, Arenas J, Martín MA.

Adv Exp Med Biol. 2009;652:85-116. doi: 10.1007/978-90-481-2813-6_7. Review.

PMID:
20225021
8.

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.

Fernández-Vizarra E, Tiranti V, Zeviani M.

Biochim Biophys Acta. 2009 Jan;1793(1):200-11. doi: 10.1016/j.bbamcr.2008.05.028. Epub 2008 Jun 21. Review.

9.

Molecular genetic and clinical aspects of mitochondrial disorders in childhood.

Moslemi AR, Darin N.

Mitochondrion. 2007 Jul;7(4):241-52. Epub 2007 Feb 14. Review.

PMID:
17376748
10.

[Diseases caused by mutations in mitochondrial DNA].

Wojewoda M, Zabłocki K, Szczepanowska J.

Postepy Biochem. 2011;57(2):222-9. Review. Polish.

PMID:
21913424
11.

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects.

Leonard JV, Schapira AH.

Lancet. 2000 Jan 22;355(9200):299-304. Review.

PMID:
10675086
13.

Cardiological manifestations of mitochondrial respiratory chain disorders.

Berardo A, Musumeci O, Toscano A.

Acta Myol. 2011 Jun;30(1):9-15. Review.

14.

Genetic control of oxidative phosphorylation and experimental models of defects.

Trounce I.

Hum Reprod. 2000 Jul;15 Suppl 2:18-27. Review.

PMID:
11041510
15.

Genetics of mitochondrial respiratory chain deficiencies.

Rötig A.

Rev Neurol (Paris). 2014 May;170(5):309-22. doi: 10.1016/j.neurol.2013.11.006. Epub 2014 May 3. Review.

PMID:
24798924
16.

Oxidative phosphorylation diseases and cerebellar ataxia.

Shoffner JM, Kaufman A, Koontz D, Krawiecki N, Smith E, Topp M, Wallace DC.

Clin Neurosci. 1995;3(1):43-53. Review.

PMID:
7614094
17.

Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases.

Hanna MG, Nelson IP.

Cell Mol Life Sci. 1999 May;55(5):691-706. Review.

PMID:
10379358
18.

[Mitochondrial disorders: a classification for the 21st century].

Andreu AL, Gonzalo-Sanz R.

Neurologia. 2004 Jan-Feb;19(1):15-22. Review. Spanish.

PMID:
14762729
19.

The transmission of OXPHOS disease and methods to prevent this.

Jacobs LJ, de Wert G, Geraedts JP, de Coo IF, Smeets HJ.

Hum Reprod Update. 2006 Mar-Apr;12(2):119-36. Epub 2005 Sep 30. Review.

PMID:
16199488
20.

Human mitochondrial DNA: roles of inherited and somatic mutations.

Schon EA, DiMauro S, Hirano M.

Nat Rev Genet. 2012 Dec;13(12):878-90. doi: 10.1038/nrg3275. Review.

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