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Journal Abstract Search

151 related items for PubMed ID: 9298821

  • 1. Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.
    Barrientos A, Casademont J, Genís D, Cardellach F, Fernández-Real JM, Grau JM, Urbano-Márquez A, Estivill X, Nunes V.
    Hum Mutat; 1997; 10(3):212-6. PubMed ID: 9298821
    [Abstract] [Full Text] [Related]

  • 2. Evaluation of methods for the determination of mitochondrial respiratory chain enzyme activities in human skeletal muscle samples.
    Wiedemann FR, Vielhaber S, Schröder R, Elger CE, Kunz WS.
    Anal Biochem; 2000 Mar 01; 279(1):55-60. PubMed ID: 10683230
    [Abstract] [Full Text] [Related]

  • 3. Respiratory chain complex I deficiency.
    Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA.
    Am J Med Genet; 2001 Mar 01; 106(1):37-45. PubMed ID: 11579423
    [Abstract] [Full Text] [Related]

  • 4. Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.
    Rump P, Hamel BC, Pinckers AJ, van Dop PA.
    J Med Genet; 1997 Sep 01; 34(9):767-71. PubMed ID: 9321767
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 54(4):473-8. PubMed ID: 14520659
    [Abstract] [Full Text] [Related]

  • 6. 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 Oct 01; 15(2):123-34. PubMed ID: 10649489
    [Abstract] [Full Text] [Related]

  • 7. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
    Montero R, Sánchez-Alcázar JA, Briones P, Navarro-Sastre A, Gallardo E, Bornstein B, Herrero-Martín D, Rivera H, Martin MA, Marti R, García-Cazorla A, Montoya J, Navas P, Artuch R.
    Clin Biochem; 2009 May 01; 42(7-8):742-5. PubMed ID: 19094978
    [Abstract] [Full Text] [Related]

  • 8. Nosology of the syndrome of spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy.
    Erdem E, Erbasp6, Varli K.
    Am J Med Genet; 1994 Dec 01; 53(4):393-4. PubMed ID: 7864056
    [No Abstract] [Full Text] [Related]

  • 9. [Complex I (NADH-ubiquinone oxidoreductase) deficiency].
    Nonaka I.
    Ryoikibetsu Shokogun Shirizu; 2001 Dec 01; (36):129-31. PubMed ID: 11596342
    [No Abstract] [Full Text] [Related]

  • 10. Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA.
    Zoccolella S, Torraco A, Amati A, Lamberti P, Serlenga L, Papa S, Petruzzella V.
    Funct Neurol; 2006 Dec 01; 21(1):39-41. PubMed ID: 16735000
    [Abstract] [Full Text] [Related]

  • 11. Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood.
    Houshmand M, Gardner A, Hällström T, Müntzing K, Oldfors A, Holme E.
    Neuromuscul Disord; 2004 Mar 01; 14(3):195-201. PubMed ID: 15036329
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Complex I deficiency in Persian multiple sclerosis patients.
    Kumleh HH, Riazi GH, Houshmand M, Sanati MH, Gharagozli K, Shafa M.
    J Neurol Sci; 2006 Apr 15; 243(1-2):65-9. PubMed ID: 16413582
    [Abstract] [Full Text] [Related]

  • 14. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.
    Auré K, Fayet G, Leroy JP, Lacène E, Romero NB, Lombès A.
    Brain; 2006 May 15; 129(Pt 5):1249-59. PubMed ID: 16537564
    [Abstract] [Full Text] [Related]

  • 15. Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.
    Filosto M, Mancuso M, Vives-Bauza C, Vilà MR, Shanske S, Hirano M, Andreu AL, DiMauro S.
    Ann Neurol; 2003 Oct 15; 54(4):524-6. PubMed ID: 14520667
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 60(7):1007-9. PubMed ID: 12873860
    [Abstract] [Full Text] [Related]

  • 17. Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.
    Artuch R, Brea-Calvo G, Briones P, Aracil A, Galván M, Espinós C, Corral J, Volpini V, Ribes A, Andreu AL, Palau F, Sánchez-Alcázar JA, Navas P, Pineda M.
    J Neurol Sci; 2006 Jul 15; 246(1-2):153-8. PubMed ID: 16677673
    [Abstract] [Full Text] [Related]

  • 18. Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.
    Bruno C, Santorelli FM, Assereto S, Tonoli E, Tessa A, Traverso M, Scapolan S, Bado M, Tedeschi S, Minetti C.
    Muscle Nerve; 2003 Oct 15; 28(4):508-11. PubMed ID: 14506725
    [Abstract] [Full Text] [Related]

  • 19. Biochemical analysis of cybrids expressing mitochondrial DNA from Contursi kindred Parkinson's subjects.
    Swerdlow RH, Parks JK, Cassarino DS, Binder DR, Bennett JP, Di Iorio G, Golbe LI, Parker WD.
    Exp Neurol; 2001 Jun 15; 169(2):479-85. PubMed ID: 11358461
    [Abstract] [Full Text] [Related]

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