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Journal Abstract Search

606 related items for PubMed ID: 16898256

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

  • 2. 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
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  • 6. The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease.
    Sharer JD.
    IUBMB Life; 2005 Sep; 57(9):607-14. PubMed ID: 16203679
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  • 7. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
    Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, Pöyhönen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A.
    Hum Mol Genet; 2012 Jan 01; 21(1):66-75. PubMed ID: 21937588
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  • 8. Infantile-onset disorders of mitochondrial replication and protein synthesis.
    Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM.
    J Child Neurol; 2011 Jul 01; 26(7):866-75. PubMed ID: 21572058
    [Abstract] [Full Text] [Related]

  • 9. Mitochondrial DNA mutations: an overview of clinical and molecular aspects.
    Craigen WJ.
    Methods Mol Biol; 2012 Jul 01; 837():3-15. PubMed ID: 22215537
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  • 10. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
    Elpeleg O, Mandel H, Saada A.
    J Mol Med (Berl); 2002 Jul 01; 80(7):389-96. PubMed ID: 12110944
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  • 11. Mouse models for mitochondrial disease.
    Wallace DC.
    Am J Med Genet; 2001 Jul 01; 106(1):71-93. PubMed ID: 11579427
    [Abstract] [Full Text] [Related]

  • 12. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
    Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S.
    Arch Neurol; 2006 Aug 01; 63(8):1122-6. PubMed ID: 16908738
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  • 13. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
    Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N.
    Nat Genet; 2001 Nov 01; 29(3):337-41. PubMed ID: 11687800
    [Abstract] [Full Text] [Related]

  • 14. Inherited mitochondrial diseases of DNA replication.
    Copeland WC.
    Annu Rev Med; 2008 Nov 01; 59():131-46. PubMed ID: 17892433
    [Abstract] [Full Text] [Related]

  • 15. Measurement of mitochondrial DNA copy number.
    Venegas V, Halberg MC.
    Methods Mol Biol; 2012 Nov 01; 837():327-35. PubMed ID: 22215558
    [Abstract] [Full Text] [Related]

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

  • 17. 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 15; 18(8):626-32. PubMed ID: 18585914
    [Abstract] [Full Text] [Related]

  • 18. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
    Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A.
    Nat Genet; 2007 Jun 15; 39(6):776-80. PubMed ID: 17486094
    [Abstract] [Full Text] [Related]

  • 19. Animal models for mitochondrial disease.
    Wallace DC.
    Methods Mol Biol; 2002 Jun 15; 197():3-54. PubMed ID: 12013805
    [Abstract] [Full Text] [Related]

  • 20. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
    Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A.
    Brain; 2008 Nov 15; 131(Pt 11):2841-50. PubMed ID: 18819985
    [Abstract] [Full Text] [Related]

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