These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 15917273)

  • 1. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
    Luoma PT; Luo N; Löscher WN; Farr CL; Horvath R; Wanschitz J; Kiechl S; Kaguni LS; Suomalainen A
    Hum Mol Genet; 2005 Jul; 14(14):1907-20. PubMed ID: 15917273
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular diagnosis of Alpers syndrome.
    Nguyen KV; Sharief FS; Chan SS; Copeland WC; Naviaux RK
    J Hepatol; 2006 Jul; 45(1):108-16. PubMed ID: 16545482
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Do carriers of POLG mutation W748S have disease manifestations?
    Rantamäki M; Luoma P; Virta JJ; Rinne JO; Paetau A; Suomalainen A; Udd B
    Clin Genet; 2007 Dec; 72(6):532-7. PubMed ID: 17894835
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The unfolding clinical spectrum of POLG mutations.
    Blok MJ; van den Bosch BJ; Jongen E; Hendrickx A; de Die-Smulders CE; Hoogendijk JE; Brusse E; de Visser M; Poll-The BT; Bierau J; de Coo IF; Smeets HJ
    J Med Genet; 2009 Nov; 46(11):776-85. PubMed ID: 19578034
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 22(6):498-9. PubMed ID: 14635118
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Consequences of mutations in human DNA polymerase gamma.
    Longley MJ; Graziewicz MA; Bienstock RJ; Copeland WC
    Gene; 2005 Jul; 354():125-31. PubMed ID: 15913923
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial DNA polymerase-gamma and human disease.
    Hudson G; Chinnery PF
    Hum Mol Genet; 2006 Oct; 15 Spec No 2():R244-52. PubMed ID: 16987890
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 65(9):1493-5. PubMed ID: 16177225
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.
    Zabalza R; Nurminen A; Kaguni LS; Garesse R; Gallardo ME; Bornstein B
    BMC Res Notes; 2014 Dec; 7():883. PubMed ID: 25488682
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 11431686
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
    Tang S; Wang J; Lee NC; Milone M; Halberg MC; Schmitt ES; Craigen WJ; Zhang W; Wong LJ
    J Med Genet; 2011 Oct; 48(10):669-81. PubMed ID: 21880868
    [TBL] [Abstract][Full Text] [Related]  

  • 12. POLG1 mutations associated with progressive encephalopathy in childhood.
    Kollberg G; Moslemi AR; Darin N; Nennesmo I; Bjarnadottir I; Uvebrant P; Holme E; Melberg A; Tulinius M; Oldfors A
    J Neuropathol Exp Neurol; 2006 Aug; 65(8):758-68. PubMed ID: 16896309
    [TBL] [Abstract][Full Text] [Related]  

  • 13. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
    Naviaux RK; Nguyen KV
    Ann Neurol; 2004 May; 55(5):706-12. PubMed ID: 15122711
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
    Hudson G; Schaefer AM; Taylor RW; Tiangyou W; Gibson A; Venables G; Griffiths P; Burn DJ; Turnbull DM; Chinnery PF
    Arch Neurol; 2007 Apr; 64(4):553-7. PubMed ID: 17420318
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 4(12):1381-9. PubMed ID: 16181814
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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. PubMed ID: 15258572
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.
    Luoma PT; Eerola J; Ahola S; Hakonen AH; Hellström O; Kivistö KT; Tienari PJ; Suomalainen A
    Neurology; 2007 Sep; 69(11):1152-9. PubMed ID: 17846414
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
    Rovio A; Tiranti V; Bednarz AL; Suomalainen A; Spelbrink JN; Lecrenier N; Melberg A; Zeviani M; Poulton J; Foury F; Jacobs HT
    Eur J Hum Genet; 1999; 7(2):140-6. PubMed ID: 10196696
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
    Chan SS; Longley MJ; Copeland WC
    J Biol Chem; 2005 Sep; 280(36):31341-6. PubMed ID: 16024923
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.