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Journal Abstract Search

382 related items for PubMed ID: 18306244

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  • 24. [Complex I (NADH-ubiquinone oxidoreductase) deficiency].
    Nonaka I.
    Ryoikibetsu Shokogun Shirizu; 2001; (36):129-31. PubMed ID: 11596342
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  • 27. Secondary metabolic effects in complex I deficiency.
    Esteitie N, Hinttala R, Wibom R, Nilsson H, Hance N, Naess K, Teär-Fahnehjelm K, von Döbeln U, Majamaa K, Larsson NG.
    Ann Neurol; 2005 Oct; 58(4):544-52. PubMed ID: 16044424
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  • 29. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
    de Vries DD, van Engelen BG, Gabreëls FJ, Ruitenbeek W, van Oost BA.
    Ann Neurol; 1993 Sep; 34(3):410-2. PubMed ID: 8395787
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  • 34. Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.
    Diogo L, Grazina M, Garcia P, Rebelo O, Veiga MA, Cuevas J, Vilarinho L, de Almeida IT, Oliveira CR.
    Pediatr Neurol; 2009 May; 40(5):351-6. PubMed ID: 19380071
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  • 36. Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.
    Vedrenne V, Galmiche L, Chretien D, de Lonlay P, Munnich A, Rötig A.
    J Hepatol; 2012 Jan; 56(1):294-7. PubMed ID: 21741925
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  • 37. [A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain].
    Raspall-Chaure M, Solano A, Vázquez E, Macaya-Ruiz A, del Toro-Riera M, Cabezuelo-Briones A, Montoya J, Andreu A, Roig-Quilis M.
    Rev Neurol; 2012 Jan; 39(12):1129-32. PubMed ID: 15625630
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  • 38. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
    Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V.
    Am J Med Genet A; 2007 Jan 01; 143A(1):33-41. PubMed ID: 17152068
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  • 39. Respiratory chain complex I deficiency.
    Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA.
    Am J Med Genet; 2001 Jan 01; 106(1):37-45. PubMed ID: 11579423
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  • 40. Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency.
    Kruse B, Hanefeld F, Holzbach U, Wilichowski E, Christen HJ, Merboldt KD, Hänicke W, Frahm J.
    Dev Med Child Neurol; 1994 Sep 01; 36(9):839-43. PubMed ID: 7926334
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