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Journal Abstract Search

414 related items for PubMed ID: 19195941

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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. 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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  • 4. 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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  • 5. Molecular diagnosis of Alpers syndrome.
    Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK.
    J Hepatol; 2006 Jul; 45(1):108-16. PubMed ID: 16545482
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  • 6. 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
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  • 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
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  • 8. 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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  • 16. 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; 29(3):337-41. PubMed ID: 11687800
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  • 18. Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.
    Ferreira M, Evangelista T, Almeida LS, Martins J, Macario MC, Martins E, Moleirinho A, Azevedo L, Vilarinho L, Santorelli FM.
    Neuromuscul Disord; 2011 Jul; 21(7):483-8. PubMed ID: 21550804
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  • 19. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
    Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rötig A.
    Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
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