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Journal Abstract Search

240 related items for PubMed ID: 16595552

  • 1. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
    Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, Rahman S.
    Hum Reprod; 2006 Oct; 21(10):2467-73. PubMed ID: 16595552
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 16401742
    [Abstract] [Full Text] [Related]

  • 3. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
    Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A.
    Lancet; 2006 Jan; 364(9437):875-82. PubMed ID: 15351195
    [Abstract] [Full Text] [Related]

  • 4. [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
    Mukai M, Sugaya K, Matsubara S, Cai H, Yabe I, Sasaki H, Nakano I.
    Rinsho Shinkeigaku; 2014 Jan; 54(5):417-22. PubMed ID: 24943079
    [Abstract] [Full Text] [Related]

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  • 6. Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.
    Ponamarev MV, Longley MJ, Nguyen D, Kunkel TA, Copeland WC.
    J Biol Chem; 2002 May 03; 277(18):15225-8. PubMed ID: 11897778
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  • 8. POLG mutations and age at menopause.
    Duncan AJ, Knight JA, Costello H, Conway GS, Rahman S.
    Hum Reprod; 2012 Jul 03; 27(7):2243-4. PubMed ID: 22552686
    [No Abstract] [Full Text] [Related]

  • 9. The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine.
    Graziewicz MA, Bienstock RJ, Copeland WC.
    Hum Mol Genet; 2007 Nov 15; 16(22):2729-39. PubMed ID: 17725985
    [Abstract] [Full Text] [Related]

  • 10. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
    Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S.
    Arch Neurol; 2003 Sep 15; 60(9):1279-84. PubMed ID: 12975295
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 15(19):2846-55. PubMed ID: 16940310
    [Abstract] [Full Text] [Related]

  • 12. Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
    Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, Cabrera-Pérez R, Martín MÁ, Domínguez-González C, de la Cruz X, Lombès A, García-Arumí E, Martí R, Cámara Y.
    FASEB J; 2019 Jun 01; 33(6):7168-7179. PubMed ID: 30848931
    [Abstract] [Full Text] [Related]

  • 13. [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].
    Posada IJ, Gallardo ME, Domínguez C, Rivera H, Cabello A, Arenas J, Martín MA, Garesse R, Bornstein B.
    Med Clin (Barc); 2010 Oct 02; 135(10):452-5. PubMed ID: 20576279
    [Abstract] [Full Text] [Related]

  • 14. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
    Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP.
    Hum Mutat; 2003 Dec 02; 22(6):498-9. PubMed ID: 14635118
    [Abstract] [Full Text] [Related]

  • 15. A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
    Siibak T, Clemente P, Bratic A, Bruhn H, Kauppila TES, Macao B, Schober FA, Lesko N, Wibom R, Naess K, Nennesmo I, Wedell A, Peter B, Freyer C, Falkenberg M, Wredenberg A.
    Hum Mol Genet; 2017 Jul 01; 26(13):2515-2525. PubMed ID: 28430993
    [Abstract] [Full Text] [Related]

  • 16. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
    Cohen BH, Naviaux RK.
    Methods; 2010 Aug 01; 51(4):364-73. PubMed ID: 20558295
    [Abstract] [Full Text] [Related]

  • 17. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
    Ferraris S, Clark S, Garelli E, Davidzon G, Moore SA, Kardon RH, Bienstock RJ, Longley MJ, Mancuso M, Gutiérrez Ríos P, Hirano M, Copeland WC, DiMauro S.
    Arch Neurol; 2008 Jan 01; 65(1):125-31. PubMed ID: 18195150
    [Abstract] [Full Text] [Related]

  • 18. Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
    Taanman JW, Rahman S, Pagnamenta AT, Morris AA, Bitner-Glindzicz M, Wolf NI, Leonard JV, Clayton PT, Schapira AH.
    Hum Mutat; 2009 Feb 01; 30(2):248-54. PubMed ID: 18828154
    [Abstract] [Full Text] [Related]

  • 19. Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.
    Tzoulis C, Papingji M, Fiskestrand T, Røste LS, Bindoff LA.
    Acta Neurol Scand Suppl; 2009 Feb 01; (189):38-41. PubMed ID: 19566497
    [Abstract] [Full Text] [Related]

  • 20. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
    Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF.
    Am J Hum Genet; 2006 Jun 01; 78(6):1026-34. PubMed ID: 16685652
    [Abstract] [Full Text] [Related]

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