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Items: 1 to 20 of 25

1.

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He LP, Blakely E, Turnbull DM, Chinnery PF.

Neurology. 2006 May 9;66(9):1439-41.

PMID:
16682683
2.

Functional human mitochondrial DNA polymerase gamma forms a heterotrimer.

Yakubovskaya E, Chen Z, Carrodeguas JA, Kisker C, Bogenhagen DF.

J Biol Chem. 2006 Jan 6;281(1):374-82. Epub 2005 Nov 1.

3.

Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

Chan SS, Longley MJ, Naviaux RK, Copeland WC.

DNA Repair (Amst). 2005 Dec 8;4(12):1381-9. Epub 2005 Sep 21.

PMID:
16181814
4.

POLG mutations in Alpers syndrome.

Nguyen KV, Østergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK.

Neurology. 2005 Nov 8;65(9):1493-5. Epub 2005 Sep 21.

PMID:
16177225
5.

Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.

Durham SE, Bonilla E, Samuels DC, DiMauro S, Chinnery PF.

Neurology. 2005 Aug 9;65(3):453-5.

PMID:
16087914
6.
7.

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
8.

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M.

Brain. 2005 Apr;128(Pt 4):723-31. Epub 2005 Feb 2.

PMID:
15689359
9.

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C.

Neurology. 2004 Oct 12;63(7):1251-7.

PMID:
15477547
10.

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.

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

Nat Struct Mol Biol. 2004 Aug;11(8):770-6. Epub 2004 Jul 18.

PMID:
15258572
11.

DNA polymerase gamma, the mitochondrial replicase.

Kaguni LS.

Annu Rev Biochem. 2004;73:293-320. Review.

PMID:
15189144
12.

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

Naviaux RK, Nguyen KV.

Ann Neurol. 2004 May;55(5):706-12.

PMID:
15122711
13.

Mitochondrial DNA deletion in "identical" twin brothers.

Blakely EL, He L, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM.

J Med Genet. 2004 Feb;41(2):e19. No abstract available.

14.

Mitochondrial respiratory-chain diseases.

DiMauro S, Schon EA.

N Engl J Med. 2003 Jun 26;348(26):2656-68. Review. No abstract available.

PMID:
12826641
15.

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C.

Neuromuscul Disord. 2003 Feb;13(2):133-42.

PMID:
12565911
16.

DNA binding properties of human pol gammaB.

Carrodeguas JA, Pinz KG, Bogenhagen DF.

J Biol Chem. 2002 Dec 20;277(51):50008-14. Epub 2002 Oct 11.

17.

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M.

Ann Neurol. 2002 Aug;52(2):211-9.

PMID:
12210792
18.

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM.

Nucleic Acids Res. 2002 Jul 15;30(14):e68.

19.

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C.

Nat Genet. 2001 Jul;28(3):211-2.

PMID:
11431686
20.

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