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Journal Abstract Search

437 related items for PubMed ID: 17715279

  • 1. Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
    Pancrudo J, Shanske S, Bonilla E, Daras M, Akman HO, Krishna S, Malkin E, DiMauro S.
    J Child Neurol; 2007 Jul; 22(7):858-62. PubMed ID: 17715279
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  • 3. Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.
    Pereira C, Nogueira C, Barbot C, Tessa A, Soares C, Fattori F, Guimarães A, Santorelli FM, Vilarinho L.
    Biochem Biophys Res Commun; 2007 Mar 23; 354(4):937-41. PubMed ID: 17266923
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  • 5. A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.
    Nogueira C, Nunes J, Evangelista T, Fattori F, Tessa A, Pereira C, Santorelli FM, Vilarinho L.
    Mitochondrion; 2007 Dec 23; 7(6):396-8. PubMed ID: 17897888
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  • 6. A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring.
    Houshmand M, Lindberg C, Moslemi AR, Oldfors A, Holme E.
    Hum Mutat; 1999 Dec 23; 13(3):203-9. PubMed ID: 10090475
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  • 7. Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.
    Bruno C, Santorelli FM, Assereto S, Tonoli E, Tessa A, Traverso M, Scapolan S, Bado M, Tedeschi S, Minetti C.
    Muscle Nerve; 2003 Oct 23; 28(4):508-11. PubMed ID: 14506725
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  • 8. Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.
    Debray FG, Seneca S, Gonce M, Vancampenhaut K, Bianchi E, Boemer F, Weekers L, Smet J, Van Coster R.
    Mitochondrion; 2014 Jul 23; 17():101-5. PubMed ID: 24956508
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  • 9. Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
    Santorelli FM, Tanji K, Sano M, Shanske S, El-Shahawi M, Kranz-Eble P, DiMauro S, De Vivo DC.
    Ann Neurol; 1997 Aug 23; 42(2):256-60. PubMed ID: 9266739
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  • 10. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.
    Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AA, Charlton CP, Turnbull DM, Bindoff LA.
    Eur J Hum Genet; 2004 Jun 23; 12(6):509-12. PubMed ID: 15054399
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  • 13. Surveyor nuclease detection of mutations and polymorphisms of mtDNA in children.
    Pilch J, Asman M, Jamroz E, Kajor M, Kotrys-Puchalska E, Goss M, Krzak M, Witecka J, Gmiński J, Sieroń AL.
    Pediatr Neurol; 2010 Nov 23; 43(5):325-30. PubMed ID: 20933175
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  • 16. Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.
    Mancuso M, Ferraris S, Nishigaki Y, Azan G, Mauro A, Sammarco P, Krishna S, Tay SK, Bonilla E, Romansky SG, Hirano M, DiMauro S.
    J Neurol Sci; 2005 Jan 15; 228(1):93-7. PubMed ID: 15607216
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  • 17. A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy.
    Sanaker PS, Nakkestad HL, Downham E, Bindoff LA.
    Acta Neurol Scand; 2010 Feb 15; 121(2):109-13. PubMed ID: 19744136
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  • 18. Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.
    Horváth R, Schoser BG, Müller-Höcker J, Völpel M, Jaksch M, Lochmüller H.
    Neuromuscul Disord; 2005 Dec 15; 15(12):851-7. PubMed ID: 16288875
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  • 19. Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies.
    Song D, Zhang Y, Shi J, Lü Q, Chen J, Zhang H, Zhang W, Wang H, Cai Q.
    Chin Med J (Engl); 2001 Dec 15; 114(12):1273-5. PubMed ID: 11793851
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