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Journal Abstract Search

102 related items for PubMed ID: 11594340

  • 1. Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia.
    Sahashi K, Yoneda M, Ohno K, Tanaka M, Ibi T, Sahashi K.
    J Med Genet; 2001 Oct; 38(10):703-5. PubMed ID: 11594340
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  • 2. CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.
    Raffelsberger T, Rossmanith W, Thaller-Antlanger H, Bittner RE.
    Neurology; 2001 Dec 26; 57(12):2298-301. PubMed ID: 11756614
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  • 3. [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 26; 55(12):3265-9. PubMed ID: 9436448
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  • 4. 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 26; 98(10):1453-9. PubMed ID: 25034047
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  • 5. Extensive tissue oxygenation associated with mitochondrial DNA mutations.
    Ozawa T, Sahashi K, Nakase Y, Chance B.
    Biochem Biophys Res Commun; 1995 Aug 15; 213(2):432-8. PubMed ID: 7646496
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  • 6. A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.
    Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E, Zeviani M.
    Neuromuscul Disord; 1999 Mar 15; 9(2):66-71. PubMed ID: 10220860
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  • 13. Genomic DNA sequences of mitochondrial tRNA genes in fungi Penicillium chrysogenum KCTC1262: tRNA(arg), tRNA(asn) and tRNA(tyr) genes.
    Sheen J, Kim S, Kho YH, Bae KS.
    Nucleic Acids Res; 1992 Nov 11; 20(21):5842. PubMed ID: 1280811
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  • 15. Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.
    Spinazzola A, Carrara F, Mora M, Zeviani M.
    Neuromuscul Disord; 2004 Dec 11; 14(12):815-7. PubMed ID: 15564038
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  • 17. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.
    Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R.
    J Med Genet; 2001 Oct 11; 38(10):665-73. PubMed ID: 11584044
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  • 18. A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.
    Yan N, Cai S, Guo B, Mou Y, Zhu J, Chen J, Zhang T, Li R, Liu X.
    Mol Vis; 2010 Aug 25; 16():1736-42. PubMed ID: 20806033
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