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Journal Abstract Search

128 related items for PubMed ID: 7993661

  • 1. A Caucasian family with the 3271 mutation in mitochondrial DNA.
    Marie SK, Goto Y, Passos-Bueno MR, Zatz M, Carvalho AA, Carvalho M, Levy JA, Palou VB, Campiotto S, Horai S.
    Biochem Med Metab Biol; 1994 Aug; 52(2):136-9. PubMed ID: 7993661
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  • 2. Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
    Mukai M, Nagata E, Mizuma A, Yamano M, Sugaya K, Nishino I, Goto YI, Takizawa S.
    Intern Med; 2017 Aug; 56(1):95-99. PubMed ID: 28050007
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  • 8. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).
    Kobayashi Y, Momoi MY, Tominaga K, Momoi T, Nihei K, Yanagisawa M, Kagawa Y, Ohta S.
    Biochem Biophys Res Commun; 1990 Dec 31; 173(3):816-22. PubMed ID: 2268345
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  • 10. Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
    Kobayashi Y, Momoi MY, Tominaga K, Shimoizumi H, Nihei K, Yanagisawa M, Kagawa Y, Ohta S.
    Am J Hum Genet; 1991 Sep 31; 49(3):590-9. PubMed ID: 1715668
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  • 11. A specific point mutation in the mitochondrial genome of Caucasians with MELAS.
    Enter C, Müller-Höcker J, Zierz S, Kurlemann G, Pongratz D, Förster C, Obermaier-Kusser B, Gerbitz KD.
    Hum Genet; 1991 Dec 31; 88(2):233-6. PubMed ID: 1684568
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  • 17. Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene.
    Inui K, Fukushima H, Tsukamoto H, Taniike M, Midorikawa M, Tanaka J, Nishigaki T, Okada S.
    J Pediatr; 1992 Jan 31; 120(1):62-6. PubMed ID: 1370535
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  • 18. Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.
    Uziel G, Carrara F, Granata T, Lamantea E, Mora M, Zeviani M.
    Neuromuscul Disord; 2000 Aug 31; 10(6):415-8. PubMed ID: 10899447
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