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Journal Abstract Search

320 related items for PubMed ID: 12210792

  • 1. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
    Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M.
    Ann Neurol; 2002 Aug; 52(2):211-9. PubMed ID: 12210792
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  • 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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  • 4. 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
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  • 5. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
    Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J.
    Eur J Hum Genet; 2003 Jul; 11(7):547-9. PubMed ID: 12825077
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  • 7. A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.
    Komaki H, Fukazawa T, Houzen H, Yoshida K, Nonaka I, Goto Y.
    Ann Neurol; 2002 May; 51(5):645-8. PubMed ID: 12112115
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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. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.
    Mancuso M, Filosto M, Oh SJ, DiMauro S.
    Arch Neurol; 2004 Nov; 61(11):1777-9. PubMed ID: 15534189
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  • 11. 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
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  • 12. 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
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  • 13. 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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  • 15. Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
    Lamantea E, Zeviani M.
    Ann Neurol; 2004 Sep; 56(3):454-5. PubMed ID: 15349879
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  • 18. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases.
    Kawai H, Akaike M, Yokoi K, Nishida Y, Kunishige M, Mine H, Saito S.
    Muscle Nerve; 1995 Jul; 18(7):753-60. PubMed ID: 7783765
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  • 20. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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