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512 related items for PubMed ID: 2554297

  • 1. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.
    Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC.
    Proc Natl Acad Sci U S A; 1989 Oct; 86(20):7952-6. PubMed ID: 2554297
    [Abstract] [Full Text] [Related]

  • 2. Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies.
    Degoul F, Nelson I, Lestienne P, Francois D, Romero N, Duboc D, Eymard B, Fardeau M, Ponsot G, Paturneau-Jouas M.
    J Neurol Sci; 1991 Feb; 101(2):168-77. PubMed ID: 1851820
    [Abstract] [Full Text] [Related]

  • 3. Multiple short direct repeats associated with single mtDNA deletions.
    Larsson NG, Holme E.
    Biochim Biophys Acta; 1992 Aug 25; 1139(4):311-4. PubMed ID: 1325186
    [Abstract] [Full Text] [Related]

  • 4. [Nucleotide mapping and a kinetic model of a heteroplasmic deletion of 4,666 base pairs from mitochondrial DNA in the Kearns-Sayre syndrome].
    Nelson I, d'Auriol L, Galibert F, Ponsot G, Lestienne P.
    C R Acad Sci III; 1989 Aug 25; 309(10):403-7. PubMed ID: 2514965
    [Abstract] [Full Text] [Related]

  • 5. Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.
    Mita S, Schmidt B, Schon EA, DiMauro S, Bonilla E.
    Proc Natl Acad Sci U S A; 1989 Dec 25; 86(23):9509-13. PubMed ID: 2556715
    [Abstract] [Full Text] [Related]

  • 6. 3.1-kb deletion of mitochondrial DNA in a patient with Kearns-Sayre syndrome.
    Klopstock T, Bischof F, Gerok K, Deuschl G, Seibel P, Ketelsen UP, Reichmann H.
    Acta Neuropathol; 1995 Dec 25; 90(2):126-9. PubMed ID: 7484086
    [Abstract] [Full Text] [Related]

  • 7. Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.
    Moraes CT, Schon EA, DiMauro S, Miranda AF.
    Biochem Biophys Res Commun; 1989 Apr 28; 160(2):765-71. PubMed ID: 2541710
    [Abstract] [Full Text] [Related]

  • 8. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.
    Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M.
    Pediatr Res; 1990 Aug 28; 28(2):131-6. PubMed ID: 2395603
    [Abstract] [Full Text] [Related]

  • 9. Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.
    Nelson I, Degoul F, Obermaier-Kusser B, Romero N, Borrone C, Marsac C, Vayssiere JL, Gerbitz K, Fardeau M, Ponsot G, Lestienne P.
    Nucleic Acids Res; 1989 Oct 25; 17(20):8117-24. PubMed ID: 2813058
    [Abstract] [Full Text] [Related]

  • 10. Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres.
    Oldfors A, Larsson NG, Holme E, Tulinius M, Kadenbach B, Droste M.
    J Neurol Sci; 1992 Jul 25; 110(1-2):169-77. PubMed ID: 1324295
    [Abstract] [Full Text] [Related]

  • 11. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.
    Nakase H, Moraes CT, Rizzuto R, Lombes A, DiMauro S, Schon EA.
    Am J Hum Genet; 1990 Mar 25; 46(3):418-27. PubMed ID: 1689952
    [Abstract] [Full Text] [Related]

  • 12. [Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases].
    Barrientos A, Casademont J, Grau JM, Cardellach F, Montoya J, Estivill X, Urbano-Márquez A, Nunes V.
    Med Clin (Barc); 1995 Jul 01; 105(5):180-4. PubMed ID: 7630231
    [Abstract] [Full Text] [Related]

  • 13. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.
    Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, Servidei S.
    N Engl J Med; 1989 May 18; 320(20):1293-9. PubMed ID: 2541333
    [Abstract] [Full Text] [Related]

  • 14. Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies.
    Goto Y, Koga Y, Horai S, Nonaka I.
    J Neurol Sci; 1990 Dec 18; 100(1-2):63-9. PubMed ID: 1965208
    [Abstract] [Full Text] [Related]

  • 15. Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia.
    Reichmann H, Degoul F, Gold R, Meurers B, Ketelsen UP, Hartmann J, Marsac C, Lestienne P.
    Eur Neurol; 1991 Dec 18; 31(2):108-13. PubMed ID: 1646110
    [Abstract] [Full Text] [Related]

  • 16. mtDNA deletions in Kearns-Sayre.
    Johns DR.
    Neurology; 1990 Aug 18; 40(8):1322-3. PubMed ID: 2381550
    [No Abstract] [Full Text] [Related]

  • 17. Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile.
    Fassati A, Bordoni A, Amboni P, Fortunato F, Fagiolari G, Bresolin N, Prelle A, Comi G, Scarlato G.
    J Neurol Sci; 1994 May 18; 123(1-2):140-6. PubMed ID: 8064307
    [Abstract] [Full Text] [Related]

  • 18. Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies.
    Gerbitz KD, Obermaier-Kusser B, Lestienne P, Zierz S, Müller-Höcker J, Pongratz D, Paetzke-Brunner I, Deufel T.
    J Clin Chem Clin Biochem; 1990 Apr 18; 28(4):241-50. PubMed ID: 2162908
    [Abstract] [Full Text] [Related]

  • 19. [Kearns-Sayre syndrome: mitochondrial encephalomyopathy caused by deficiency of the respiratory chain].
    Desnuelle C, Pellissier JF, Serratrice G, Pouget J, Turnbull DM.
    Rev Neurol (Paris); 1989 Apr 18; 145(12):842-50. PubMed ID: 2559448
    [Abstract] [Full Text] [Related]

  • 20. Kearns-Sayre syndrome with muscle mitochondrial DNA deletion.
    Lestienne P, Ponsot G.
    Lancet; 1988 Apr 16; 1(8590):885. PubMed ID: 2895391
    [No Abstract] [Full Text] [Related]

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