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Items: 1 to 20 of 33

1.

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW.

J Med Genet. 2009 Mar;46(3):209-14. doi: 10.1136/jmg.2008.058180.

PMID:
19251978
2.

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, Powell S, Simpson E, Wong LJ.

Neuromuscul Disord. 2008 Aug;18(8):626-32. doi: 10.1016/j.nmd.2008.05.009. Epub 2008 Jun 27.

PMID:
18585914
3.

Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review.

Silva MF, Aires CC, Luis PB, Ruiter JP, IJlst L, Duran M, Wanders RJ, Tavares de Almeida I.

J Inherit Metab Dis. 2008 Apr;31(2):205-16. doi: 10.1007/s10545-008-0841-x. Epub 2008 Apr 4. Review.

PMID:
18392741
4.

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).

McFarland R, Hudson G, Taylor RW, Green SH, Hodges S, McKiernan PJ, Chinnery PF, Ramesh V.

Arch Dis Child. 2008 Feb;93(2):151-3. doi: 10.1136/adc.2007.122911.

PMID:
18208989
5.

Inherited mitochondrial diseases of DNA replication.

Copeland WC.

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

6.

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

Sarzi E, Bourdon A, Chrétien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rötig A.

J Pediatr. 2007 May;150(5):531-4, 534.e1-6.

PMID:
17452231
7.

DNA polymerases and human diseases.

Sweasy JB, Lauper JM, Eckert KA.

Radiat Res. 2006 Nov;166(5):693-714. Review.

PMID:
17067213
8.

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
9.

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA.

Brain. 2006 Jul;129(Pt 7):1685-92. Epub 2006 Apr 25.

PMID:
16638794
10.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF.

Brain. 2006 Jul;129(Pt 7):1674-84. Epub 2006 Apr 18.

PMID:
16621917
11.

Systematic identification of human mitochondrial disease genes through integrative genomics.

Calvo S, Jain M, Xie X, Sheth SA, Chang B, Goldberger OA, Spinazzola A, Zeviani M, Carr SA, Mootha VK.

Nat Genet. 2006 May;38(5):576-82. Epub 2006 Apr 2.

PMID:
16582907
12.

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA.

Arch Neurol. 2006 Jan;63(1):107-11.

PMID:
16401742
13.

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.

15.

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
16.

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA.

Neurology. 2005 Apr 12;64(7):1204-8.

PMID:
15824347
17.

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
18.

Functions of DNA polymerases.

Bebenek K, Kunkel TA.

Adv Protein Chem. 2004;69:137-65. Review. No abstract available.

PMID:
15588842
19.

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

Naviaux RK, Nguyen KV.

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

PMID:
15122711
20.

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

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