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Journal Abstract Search

123 related items for PubMed ID: 7980504

  • 1. Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene.
    Seibel P, Lauber J, Klopstock T, Marsac C, Kadenbach B, Reichmann H.
    Biochem Biophys Res Commun; 1994 Oct 28; 204(2):482-9. PubMed ID: 7980504
    [Abstract] [Full Text] [Related]

  • 2. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis.
    Taylor RW, Chinnery PF, Bates MJ, Jackson MJ, Johnson MA, Andrews RM, Turnbull DM.
    Biochem Biophys Res Commun; 1998 Feb 04; 243(1):47-51. PubMed ID: 9473477
    [Abstract] [Full Text] [Related]

  • 3. A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia.
    Cardaioli E, Da Pozzo P, Radi E, Dotti MT, Federico A.
    Biochem Biophys Res Commun; 2005 Feb 18; 327(3):675-8. PubMed ID: 15649400
    [Abstract] [Full Text] [Related]

  • 4. Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.
    Kornblum C, Zsurka G, Wiesner RJ, Schröder R, Kunz WS.
    Biosci Rep; 2008 Apr 18; 28(2):89-96. PubMed ID: 18384291
    [Abstract] [Full Text] [Related]

  • 5. The molecular genetics of mitochondrial cytopathies: the Melbourne experience.
    Thyagarajan D, Byrne E, Dennet X, Marzuki S.
    Clin Exp Neurol; 1992 Apr 18; 29():172-81. PubMed ID: 1343860
    [Abstract] [Full Text] [Related]

  • 6. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
    Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S.
    J Clin Invest; 1993 Dec 18; 92(6):2906-15. PubMed ID: 8254046
    [Abstract] [Full Text] [Related]

  • 7. [A mitochondrial DNA mutation in the heteroplasmic tRNA-Tyr gene associated with chronic progressive external ophthalmoplegia--clinical and molecular biological study].
    Sahashi K, Ibi T, Yoneda M, Tanaka M, Ohno K.
    Nihon Rinsho; 1997 Dec 18; 55(12):3265-9. PubMed ID: 9436448
    [Abstract] [Full Text] [Related]

  • 8. Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.
    Cardaioli E, Da Pozzo P, Malfatti E, Gallus GN, Rubegni A, Malandrini A, Gaudiano C, Guidi L, Serni G, Berti G, Dotti MT, Federico A.
    J Neurol Sci; 2008 Sep 15; 272(1-2):106-9. PubMed ID: 18603265
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 51(5):645-8. PubMed ID: 12112115
    [Abstract] [Full Text] [Related]

  • 10. A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
    Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A.
    Neuromuscul Disord; 2007 Oct 15; 17(9-10):681-3. PubMed ID: 17614276
    [Abstract] [Full Text] [Related]

  • 11. Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia.
    Chen Q, Li X, Wu L, Qi Y, Wu X.
    Chin Med J (Engl); 1998 Jun 15; 111(6):500-3. PubMed ID: 11245066
    [Abstract] [Full Text] [Related]

  • 12. A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.
    Maeso E, Rueda A, Jiménez S, Del Hoyo P, Martín R, Cabello A, Mendoza LM, Arenas J, Campos Y.
    Neuromuscul Disord; 2007 May 15; 17(5):415-8. PubMed ID: 17363246
    [Abstract] [Full Text] [Related]

  • 13. Detection of a conserved arrangement of three tRNA genes in the sunflower mitochondrial genome. Identification, mapping and expression of trnC-trnN-trnY genes.
    Ceci LR, Ambrosini M, Fiorella S, Gallerani R.
    Biochem Mol Biol Int; 1994 Apr 15; 32(6):1161-72. PubMed ID: 8061634
    [Abstract] [Full Text] [Related]

  • 14. Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.
    Jackson CB, Neuwirth C, Hahn D, Nuoffer JM, Frank S, Gallati S, Schaller A.
    Br J Ophthalmol; 2014 Oct 15; 98(10):1453-9. PubMed ID: 25034047
    [Abstract] [Full Text] [Related]

  • 15. A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.
    Pinós T, Marotta M, Gallardo E, Illa I, Díaz-Manera J, Gonzalez-Vioque E, García-Arumí E, Andreu AL, Martí R.
    Mitochondrion; 2011 Jan 15; 11(1):228-33. PubMed ID: 20813205
    [Abstract] [Full Text] [Related]

  • 16. [Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome].
    Wang ZX, Yuan Y, Gao F, Qi Y, Shen DG, Chen QT.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Aug 15; 20(4):273-8. PubMed ID: 12903032
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 64(4):553-7. PubMed ID: 17420318
    [Abstract] [Full Text] [Related]

  • 18. [A single deletion of mitochondrial DNA in a Brazilian patient with chronic progressive external ophthalmoplegia].
    Carod-Artal FJ, Solano-Palacios A, Playán-Ariso A, Viana-Brandi I, López-Gallardo E, Andreu A, López-Pérez M, Montoya J.
    Rev Neurol; 2007 Apr 15; 37(11):1029-31. PubMed ID: 14669142
    [Abstract] [Full Text] [Related]

  • 19. The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy.
    Grasso M, Diegoli M, Brega A, Campana C, Tavazzi L, Arbustini E.
    Eur J Hum Genet; 2001 Apr 15; 9(4):311-5. PubMed ID: 11313776
    [Abstract] [Full Text] [Related]

  • 20. Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia.
    Schlapakow E, Peeva V, Zsurka G, Jeub M, Wabbels B, Kornblum C, Kunz WS.
    Neuromuscul Disord; 2019 May 15; 29(5):358-367. PubMed ID: 30962064
    [Abstract] [Full Text] [Related]

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