BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

545 related articles for article (PubMed ID: 16987890)

  • 1. 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]  

  • 2. 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]  

  • 3. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.
    Van Goethem G; Martin JJ; Van Broeckhoven C
    Acta Neurol Belg; 2002 Mar; 102(1):39-42. PubMed ID: 12094562
    [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. 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]  

  • 7. Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.
    Zsurka G; Baron M; Stewart JD; Kornblum C; Bös M; Sassen R; Taylor RW; Elger CE; Chinnery PF; Kunz WS
    J Neuropathol Exp Neurol; 2008 Sep; 67(9):857-66. PubMed ID: 18716558
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The expression of polymerase gamma and mitochondrial transcription factor A and the regulation of mitochondrial DNA content in mature human sperm.
    Amaral A; Ramalho-Santos J; St John JC
    Hum Reprod; 2007 Jun; 22(6):1585-96. PubMed ID: 17339235
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes.
    Kasahara T; Kubota M; Miyauchi T; Noda Y; Mouri A; Nabeshima T; Kato T
    Mol Psychiatry; 2006 Jun; 11(6):577-93, 523. PubMed ID: 16619054
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis.
    Hance N; Ekstrand MI; Trifunovic A
    Hum Mol Genet; 2005 Jul; 14(13):1775-83. PubMed ID: 15888483
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Autosomal disorders of mitochondrial DNA maintenance.
    Van Goethem G
    Acta Neurol Belg; 2006 Jun; 106(2):66-72. PubMed ID: 16898256
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Increase in mitochondrial DNA mutations impairs retinal function and renders the retina vulnerable to injury.
    Kong YX; Van Bergen N; Trounce IA; Bui BV; Chrysostomou V; Waugh H; Vingrys A; Crowston JG
    Aging Cell; 2011 Aug; 10(4):572-83. PubMed ID: 21332926
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Construction of transgenic mice with tissue-specific acceleration of mitochondrial DNA mutagenesis.
    Zhang D; Mott JL; Chang SW; Denniger G; Feng Z; Zassenhaus HP
    Genomics; 2000 Oct; 69(2):151-61. PubMed ID: 11031098
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Animal models for mitochondrial disease.
    Wallace DC
    Methods Mol Biol; 2002; 197():3-54. PubMed ID: 12013805
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
    Elpeleg O; Mandel H; Saada A
    J Mol Med (Berl); 2002 Jul; 80(7):389-96. PubMed ID: 12110944
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 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. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
    Uusimaa J; Hinttala R; Rantala H; Päivärinta M; Herva R; Röyttä M; Soini H; Moilanen JS; Remes AM; Hassinen IE; Majamaa K
    Epilepsia; 2008 Jun; 49(6):1038-45. PubMed ID: 18294203
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 28.