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Journal Abstract Search

140 related items for PubMed ID: 9686359

  • 1. The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.
    Loeffen J, Smeets R, Smeitink J, Ruitenbeek W, Janssen A, Mariman E, Sengers R, Trijbels F, van den Heuvel L.
    J Inherit Metab Dis; 1998 Jun; 21(3):210-5. PubMed ID: 9686359
    [No Abstract] [Full Text] [Related]

  • 2. Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features.
    Thyagarajan D, Byrne E.
    Int Rev Neurobiol; 2002 Jun; 53():93-144. PubMed ID: 12512338
    [No Abstract] [Full Text] [Related]

  • 3. [Complex I deficiency due to mutations in nuclear-encoded subunit genes].
    Komaki H, Goto Y.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():371-5. PubMed ID: 12013889
    [No Abstract] [Full Text] [Related]

  • 4. The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.
    Loeffen J, Smeets R, Smeitink J, Triepels R, Sengers R, Trijbels F, van den Heuvel L.
    J Inherit Metab Dis; 1999 Feb; 22(1):19-28. PubMed ID: 10070614
    [Abstract] [Full Text] [Related]

  • 5. The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients.
    Triepels R, van den Heuvel L, Loeffen J, Smeets R, Trijbels F, Smeitink J.
    Hum Genet; 1998 Nov; 103(5):557-63. PubMed ID: 9860297
    [Abstract] [Full Text] [Related]

  • 6. [Complex I deficiency due to NDUFS8 gene mutation].
    Ito M.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():441-3. PubMed ID: 12013907
    [No Abstract] [Full Text] [Related]

  • 7. Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase.
    de Sury R, Martinez P, Procaccio V, Lunardi J, Issartel JP.
    Gene; 1998 Jul 17; 215(1):1-10. PubMed ID: 9666055
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  • 17. The nuoM arg368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber's hereditary optic neuropathy.
    Lunardi J, Darrouzet E, Dupuis A, Issartel JP.
    Biochim Biophys Acta; 1998 Aug 14; 1407(2):114-24. PubMed ID: 9685604
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