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4. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Wong LJ; Naviaux RK; Brunetti-Pierri N; Zhang Q; Schmitt ES; Truong C; Milone M; Cohen BH; Wical B; Ganesh J; Basinger AA; Burton BK; Swoboda K; Gilbert DL; Vanderver A; Saneto RP; Maranda B; Arnold G; Abdenur JE; Waters PJ; Copeland WC Hum Mutat; 2008 Sep; 29(9):E150-72. PubMed ID: 18546365 [TBL] [Abstract][Full Text] [Related]
5. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. Rajakulendran S; Pitceathly RD; Taanman JW; Costello H; Sweeney MG; Woodward CE; Jaunmuktane Z; Holton JL; Jacques TS; Harding BN; Fratter C; Hanna MG; Rahman S PLoS One; 2016; 11(1):e0145500. PubMed ID: 26735972 [TBL] [Abstract][Full Text] [Related]
6. POLG mutations and Alpers syndrome. Davidzon G; Mancuso M; Ferraris S; Quinzii C; Hirano M; Peters HL; Kirby D; Thorburn DR; DiMauro S Ann Neurol; 2005 Jun; 57(6):921-3. PubMed ID: 15929042 [TBL] [Abstract][Full Text] [Related]
7. Clinical and molecular features of POLG-related mitochondrial disease. Stumpf JD; Saneto RP; Copeland WC Cold Spring Harb Perspect Biol; 2013 Apr; 5(4):a011395. PubMed ID: 23545419 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 16621917 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 12565911 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 16638794 [TBL] [Abstract][Full Text] [Related]
11. Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. Nurminen A; Farnum GA; Kaguni LS BBA Clin; 2017 Jun; 7():147-156. PubMed ID: 28480171 [TBL] [Abstract][Full Text] [Related]
12. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Baruffini E; Lodi T; Dallabona C; Puglisi A; Zeviani M; Ferrero I Hum Mol Genet; 2006 Oct; 15(19):2846-55. PubMed ID: 16940310 [TBL] [Abstract][Full Text] [Related]
13. Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene. Pronicka E; Weglewska-Jurkiewicz A; Pronicki M; Sykut-Cegielska J; Kowalski P; Pajdowska M; Jankowska I; Kotulska K; Kalicinski P; Jakobkiewicz-Banecka J; Wegrzyn G Med Sci Monit; 2011 Apr; 17(4):CR203-9. PubMed ID: 21455106 [TBL] [Abstract][Full Text] [Related]
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16. Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. Schaller A; Hahn D; Jackson CB; Kern I; Chardot C; Belli DC; Gallati S; Nuoffer JM BMC Neurol; 2011 Jan; 11():4. PubMed ID: 21235791 [TBL] [Abstract][Full Text] [Related]
17. 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; 63(7):1251-7. PubMed ID: 15477547 [TBL] [Abstract][Full Text] [Related]
18. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Cohen BH; Naviaux RK Methods; 2010 Aug; 51(4):364-73. PubMed ID: 20558295 [TBL] [Abstract][Full Text] [Related]
19. MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report. Parada-Garza JD; López-Valencia G; Miranda-García LA; Pérez-García G; Ruiz-Sandoval JL Neuromuscul Disord; 2020 Jul; 30(7):590-592. PubMed ID: 32600829 [TBL] [Abstract][Full Text] [Related]