Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 48

1.

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ.

Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549. Epub 2010 May 6.

2.

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.

Cohen BH, Naviaux RK.

Methods. 2010 Aug;51(4):364-73. doi: 10.1016/j.ymeth.2010.05.008. Epub 2010 Jun 15. Review.

PMID:
20558295
3.

Autosomal disorders of mitochondrial DNA maintenance.

Van Goethem G.

Acta Neurol Belg. 2006 Jun;106(2):66-72. Review.

PMID:
16898256
4.

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.

Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S.

Arch Neurol. 2006 Aug;63(8):1122-6. Review.

PMID:
16908738
5.

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

El-Hattab AW, Scaglia F.

Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6. Review.

6.

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M, Fratter C.

Biochim Biophys Acta. 2009 Dec;1792(12):1109-12. doi: 10.1016/j.bbadis.2009.08.016. Epub 2009 Sep 11. Review.

7.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

Hirano M, Nishigaki Y, Martí R.

Neurologist. 2004 Jan;10(1):8-17. Review.

PMID:
14720311
8.

[Mitochondrial disease and mitochondrial DNA depletion syndromes].

Huang CC, Hsu CH.

Acta Neurol Taiwan. 2009 Dec;18(4):287-95. Review. Chinese.

PMID:
20329599
9.

[Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].

Pronicka E, Piekutowska-Abramczuk D, Pronicki M.

Postepy Biochem. 2008;54(2):161-8. Review. Polish.

PMID:
18807927
10.

Mitochondrial DNA analysis in clinical laboratory diagnostics.

Wong LJ, Boles RG.

Clin Chim Acta. 2005 Apr;354(1-2):1-20. Epub 2005 Jan 27. Review.

PMID:
15748595
11.
12.

Mitochondrial syndromes with leukoencephalopathies.

Wong LJ.

Semin Neurol. 2012 Feb;32(1):55-61. doi: 10.1055/s-0032-1306387. Epub 2012 Mar 15. Review.

PMID:
22422207
13.

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
14.

Infantile-onset disorders of mitochondrial replication and protein synthesis.

Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM.

J Child Neurol. 2011 Jul;26(7):866-75. doi: 10.1177/0883073811402072. Epub 2011 May 13. Review.

PMID:
21572058
15.

Defects in mitochondrial DNA replication and human disease.

Copeland WC.

Crit Rev Biochem Mol Biol. 2012 Jan-Feb;47(1):64-74. doi: 10.3109/10409238.2011.632763. Review.

16.

Deoxyribonucleoside kinases in mitochondrial DNA depletion.

Saada-Reisch A.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1205-15. Review.

PMID:
15571232
17.

Inherited mitochondrial diseases of DNA replication.

Copeland WC.

Annu Rev Med. 2008;59:131-46. Review.

18.

Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism.

Eriksson S, Wang L.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):800-8. doi: 10.1080/15257770802146197. Review.

PMID:
18600543
19.

Polymerase gamma disease through the ages.

Saneto RP, Naviaux RK.

Dev Disabil Res Rev. 2010;16(2):163-74. doi: 10.1002/ddrr.105. Review.

PMID:
20818731
20.

Mitochondrial DNA depletion syndromes--many genes, common mechanisms.

Suomalainen A, Isohanni P.

Neuromuscul Disord. 2010 Jul;20(7):429-37. doi: 10.1016/j.nmd.2010.03.017. Epub 2010 May 4. Review.

PMID:
20444604

Supplemental Content

Support Center