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Journal Abstract Search

701 related items for PubMed ID: 14635118

  • 1. 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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  • 3. Autosomal disorders of mitochondrial DNA maintenance.
    Van Goethem G.
    Acta Neurol Belg; 2006 Jun; 106(2):66-72. PubMed ID: 16898256
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  • 5. 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
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  • 6. 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; 18(8):626-32. PubMed ID: 18585914
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  • 9. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
    Kollberg G, Jansson M, Pérez-Bercoff A, Melberg A, Lindberg C, Holme E, Moslemi AR, Oldfors A.
    Eur J Hum Genet; 2005 Apr; 13(4):463-9. PubMed ID: 15702133
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  • 10. Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
    Weiss MD, Saneto RP.
    Muscle Nerve; 2010 Jun; 41(6):882-5. PubMed ID: 20513108
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  • 11. 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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  • 14. 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
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  • 15. 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 01; 48(10):669-81. PubMed ID: 21880868
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  • 16. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
    Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S.
    N Engl J Med; 1999 Sep 30; 341(14):1037-44. PubMed ID: 10502593
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  • 17. 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 30; 57(6):921-3. PubMed ID: 15929042
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  • 18. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.
    Moslemi AR, Melberg A, Holme E, Oldfors A.
    Ann Neurol; 1996 Nov 30; 40(5):707-13. PubMed ID: 8957011
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  • 19. 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 30; 63(1):107-11. PubMed ID: 16401742
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  • 20. Early-onset familial parkinsonism due to POLG mutations.
    Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, Hirano M, DiMauro S.
    Ann Neurol; 2006 May 30; 59(5):859-62. PubMed ID: 16634032
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