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Journal Abstract Search

271 related items for PubMed ID: 10944442

  • 1. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.
    Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM, Smeitink JA.
    Biochem Biophys Res Commun; 2000 Aug 18; 275(1):63-8. PubMed ID: 10944442
    [Abstract] [Full Text] [Related]

  • 2. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
    Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR.
    Ann Neurol; 2003 Oct 18; 54(4):473-8. PubMed ID: 14520659
    [Abstract] [Full Text] [Related]

  • 3. Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
    Ugalde C, Janssen RJ, van den Heuvel LP, Smeitink JA, Nijtmans LG.
    Hum Mol Genet; 2004 Mar 15; 13(6):659-67. PubMed ID: 14749350
    [Abstract] [Full Text] [Related]

  • 4. Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
    Rubio-Gozalbo ME, Dijkman KP, van den Heuvel LP, Sengers RC, Wendel U, Smeitink JA.
    Hum Mutat; 2000 Mar 15; 15(6):522-32. PubMed ID: 10862082
    [Abstract] [Full Text] [Related]

  • 5. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
    Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Péquignot E, Munnich A, Rötig A.
    Nat Genet; 1995 Oct 15; 11(2):144-9. PubMed ID: 7550341
    [Abstract] [Full Text] [Related]

  • 6. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
    Makino M, Horai S, Goto Y, Nonaka I.
    J Hum Genet; 2000 Oct 15; 45(2):69-75. PubMed ID: 10721666
    [Abstract] [Full Text] [Related]

  • 7. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
    Ostergaard E, Rodenburg RJ, van den Brand M, Thomsen LL, Duno M, Batbayli M, Wibrand F, Nijtmans L.
    J Med Genet; 2011 Nov 15; 48(11):737-40. PubMed ID: 21617257
    [Abstract] [Full Text] [Related]

  • 8. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
    Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP.
    Hum Mutat; 2000 Nov 15; 15(2):123-34. PubMed ID: 10649489
    [Abstract] [Full Text] [Related]

  • 9. Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome.
    Papa S, Scacco S, Sardanelli AM, Vergari R, Papa F, Budde S, van den Heuvel L, Smeitink J.
    FEBS Lett; 2001 Feb 02; 489(2-3):259-62. PubMed ID: 11165261
    [Abstract] [Full Text] [Related]

  • 10. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
    Bénit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rötig A.
    Am J Hum Genet; 2001 Jun 02; 68(6):1344-52. PubMed ID: 11349233
    [Abstract] [Full Text] [Related]

  • 11. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
    Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S.
    Arch Neurol; 2003 Jul 02; 60(7):1007-9. PubMed ID: 12873860
    [Abstract] [Full Text] [Related]

  • 12. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
    Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L.
    Am J Hum Genet; 1998 Dec 02; 63(6):1598-608. PubMed ID: 9837812
    [Abstract] [Full Text] [Related]

  • 13. Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
    Herzer M, Koch J, Prokisch H, Rodenburg R, Rauscher C, Radauer W, Forstner R, Pilz P, Rolinski B, Freisinger P, Mayr JA, Sperl W.
    Neuropediatrics; 2010 Feb 02; 41(1):30-4. PubMed ID: 20571988
    [Abstract] [Full Text] [Related]

  • 14. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.
    Coenen MJ, van den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, Trijbels FJ, Grivell LA, Smeitink JA.
    Biochem Biophys Res Commun; 1999 Nov 19; 265(2):339-44. PubMed ID: 10558868
    [Abstract] [Full Text] [Related]

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  • 16. CIA30 complex I assembly factor: a candidate for human complex I deficiency?
    Janssen R, Smeitink J, Smeets R, van Den Heuvel L.
    Hum Genet; 2002 Mar 19; 110(3):264-70. PubMed ID: 11935339
    [Abstract] [Full Text] [Related]

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  • 18. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.
    Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, Kennaway NG.
    Am J Hum Genet; 2000 Dec 19; 67(6):1400-10. PubMed ID: 11047755
    [Abstract] [Full Text] [Related]

  • 19. A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
    Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M, Papa S.
    Hum Mol Genet; 2001 Mar 01; 10(5):529-35. PubMed ID: 11181577
    [Abstract] [Full Text] [Related]

  • 20. Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.
    van der Westhuizen FH, van den Heuvel LP, Smeets R, Veltman JA, Pfundt R, van Kessel AG, Ursing BM, Smeitink JA.
    Neuropediatrics; 2003 Feb 01; 34(1):14-22. PubMed ID: 12690563
    [Abstract] [Full Text] [Related]

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