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Journal Abstract Search

358 related items for PubMed ID: 15929042

  • 1. 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
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  • 2. 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
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  • 3. 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
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  • 9. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion.
    Naviaux RK, Nguyen KV.
    Ann Neurol; 2005 Sep; 58(3):491. PubMed ID: 16130100
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  • 12. Consequences of mutations in human DNA polymerase gamma.
    Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC.
    Gene; 2005 Jul 18; 354():125-31. PubMed ID: 15913923
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  • 15. 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 18; 67(9):857-66. PubMed ID: 18716558
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  • 19. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
    Cohen BH, Naviaux RK.
    Methods; 2010 Aug 18; 51(4):364-73. PubMed ID: 20558295
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  • 20. Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
    Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L.
    Eur J Paediatr Neurol; 2012 Sep 18; 16(5):542-8. PubMed ID: 22342071
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