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Results: 1 to 20 of 22

1.

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, Smeitink JA.

Eur J Pediatr. 2007 Mar;166(3):229-34. Epub 2006 Sep 7.

PMID:
16957900
[PubMed - indexed for MEDLINE]
2.

Polymerase gamma 1 mutations: clinical correlations.

Milone M, Massie R.

Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review.

PMID:
20220442
[PubMed - indexed for MEDLINE]
3.

Consequences of mutations in human DNA polymerase gamma.

Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC.

Gene. 2005 Jul 18;354:125-31. Review.

PMID:
15913923
[PubMed - indexed for MEDLINE]
4.

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Euro L, Farnum GA, Palin E, Suomalainen A, Kaguni LS.

Nucleic Acids Res. 2011 Nov;39(21):9072-84. doi: 10.1093/nar/gkr618. Epub 2011 Aug 8. Review.

PMID:
21824913
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

POLG1-related and other "mitochondrial Parkinsonisms": an overview.

Orsucci D, Caldarazzo Ienco E, Mancuso M, Siciliano G.

J Mol Neurosci. 2011 May;44(1):17-24. doi: 10.1007/s12031-010-9488-9. Epub 2011 Jan 8. Review.

PMID:
21221844
[PubMed - indexed for MEDLINE]
6.

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]
7.

Alpers syndrome: progressive neuronal degeneration of children with liver disease.

Gordon N.

Dev Med Child Neurol. 2006 Dec;48(12):1001-3. Review.

PMID:
17109792
[PubMed - indexed for MEDLINE]
8.

Mitochondrial respiratory chain disorders and the liver.

Morris AA.

Liver. 1999 Oct;19(5):357-68. Review.

PMID:
10533792
[PubMed - indexed for MEDLINE]
9.

Mitochondrial DNA polymerase-gamma and human disease.

Hudson G, Chinnery PF.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R244-52. Review.

PMID:
16987890
[PubMed - indexed for MEDLINE]
Free Article
10.

Renal disease and mitochondrial genetics.

Rötig A.

J Nephrol. 2003 Mar-Apr;16(2):286-92. Review.

PMID:
12768079
[PubMed - indexed for MEDLINE]
11.

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA.

Brain. 2009 Apr;132(Pt 4):833-42. doi: 10.1093/brain/awp058. Epub 2009 Mar 31. Review.

PMID:
19336460
[PubMed - indexed for MEDLINE]
Free Article
12.

Mitochondrial hepatopathies in the newborn period.

Fellman V, Kotarsky H.

Semin Fetal Neonatal Med. 2011 Aug;16(4):222-8. doi: 10.1016/j.siny.2011.05.002. Epub 2011 Jun 15. Review.

PMID:
21680270
[PubMed - indexed for MEDLINE]
13.

Pathogenic mutations of nuclear genes associated with mitochondrial disorders.

Zhu X, Peng X, Guan MX, Yan Q.

Acta Biochim Biophys Sin (Shanghai). 2009 Mar;41(3):179-87. Review.

PMID:
19280056
[PubMed - indexed for MEDLINE]
Free Article
14.

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.

Kirby DM, Thorburn DR.

Twin Res Hum Genet. 2008 Aug;11(4):395-411. doi: 10.1375/twin.11.4.395. Review.

PMID:
18637740
[PubMed - indexed for MEDLINE]
15.

Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review.

Harding BN.

J Child Neurol. 1990 Oct;5(4):273-87. Review.

PMID:
2246481
[PubMed - indexed for MEDLINE]
16.

[Diseases of the human mitochondrial oxidative phosphorylation system].

Ruiz-Pesini E, López-Gallardo E, Dahmani Y, Herrero MD, Solano A, Díez-Sánchez C, López-Pérez M, Montoya J.

Rev Neurol. 2006 Oct 1-15;43(7):416-24. Review. Spanish.

PMID:
17006861
[PubMed - indexed for MEDLINE]
Free Article
17.

An introduction: oxidative phosphorylation diseases.

Shoffner JM.

Semin Neurol. 2001 Sep;21(3):237-50. Review.

PMID:
11641814
[PubMed - indexed for MEDLINE]
18.

Modeling human mitochondrial diseases in flies.

Sánchez-Martínez A, Luo N, Clemente P, Adán C, Hernández-Sierra R, Ochoa P, Fernández-Moreno MA, Kaguni LS, Garesse R.

Biochim Biophys Acta. 2006 Sep-Oct;1757(9-10):1190-8. Epub 2006 May 13. Review.

PMID:
16806050
[PubMed - indexed for MEDLINE]
Free Article
19.

[Alpers disease(progressive infantile poliodystrophy)].

Sakuta R.

Ryoikibetsu Shokogun Shirizu. 2001;(36):176-7. Review. Japanese. No abstract available.

PMID:
11596362
[PubMed - indexed for MEDLINE]
20.

Alpers-Huttenlocher syndrome.

Saneto RP, Cohen BH, Copeland WC, Naviaux RK.

Pediatr Neurol. 2013 Mar;48(3):167-78. doi: 10.1016/j.pediatrneurol.2012.09.014. Review.

PMID:
23419467
[PubMed - indexed for MEDLINE]
Free PMC Article

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