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Results: 1 to 20 of 190

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
[PubMed - indexed for MEDLINE]
Free Article
2.

Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration.

Di Donato S.

J Inherit Metab Dis. 2000 May;23(3):247-63. Review.

PMID:
10863941
[PubMed - indexed for MEDLINE]
3.

Mitochondrial diseases.

DiMauro S.

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

PMID:
15282178
[PubMed - indexed for MEDLINE]
Free Article
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Molecular analysis of oxidative phosphorylation diseases for detection of mitochondrial DNA mutations.

Shoffner JM.

Curr Protoc Hum Genet. 2001 May;Chapter 9:Unit 9.9. doi: 10.1002/0471142905.hg0909s13.

PMID:
18428320
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
18620006
[PubMed - indexed for MEDLINE]
Free Article
8.

[Diseases caused by mutations in mitochondrial DNA].

Wojewoda M, Zabłocki K, Szczepanowska J.

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

PMID:
21913424
[PubMed - indexed for MEDLINE]
9.

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects.

Leonard JV, Schapira AH.

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

PMID:
10675086
[PubMed - indexed for MEDLINE]
10.

Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach.

Wong LJ.

Ann N Y Acad Sci. 2004 Apr;1011:246-58.

PMID:
15126301
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
21680271
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The mitochondrial genome in human adaptive radiation and disease: on the road to therapeutics and performance enhancement.

Wallace DC.

Gene. 2005 Jul 18;354:169-80. Review.

PMID:
16024186
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Genetic control of oxidative phosphorylation and experimental models of defects.

Trounce I.

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

PMID:
11041510
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Histochemical methods for the diagnosis of mitochondrial diseases.

De Paepe B, De Bleecker JL, Van Coster R.

Curr Protoc Hum Genet. 2009 Oct;Chapter 19:Unit19.2. doi: 10.1002/0471142905.hg1902s63.

PMID:
19806589
[PubMed - indexed for MEDLINE]
19.

Multisystem manifestations of mitochondrial disorders.

Di Donato S.

J Neurol. 2009 May;256(5):693-710. doi: 10.1007/s00415-009-5028-3. Epub 2009 Mar 1. Review.

PMID:
19252802
[PubMed - indexed for MEDLINE]
20.

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.

Rubio-Gozalbo ME, Dijkman KP, van den Heuvel LP, Sengers RC, Wendel U, Smeitink JA.

Hum Mutat. 2000;15(6):522-32.

PMID:
10862082
[PubMed - indexed for MEDLINE]

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