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Journal Abstract Search

163 related items for PubMed ID: 10412694

  • 1. [Genetic counseling and prenatal diagnosis in mitochondrial diseases].
    Klopstock T, Gasser T.
    Nervenarzt; 1999 Jun; 70(6):504-8. PubMed ID: 10412694
    [Abstract] [Full Text] [Related]

  • 2. Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan.
    Pang CY, Huang CC, Yen MY, Wang EK, Kao KP, Chen SS, Wei YH.
    J Formos Med Assoc; 1999 May; 98(5):326-34. PubMed ID: 10420700
    [Abstract] [Full Text] [Related]

  • 3. Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome.
    Ferlin T, Landrieu P, Rambaud C, Fernandez H, Dumoulin R, Rustin P, Mousson B.
    J Pediatr; 1997 Sep; 131(3):447-9. PubMed ID: 9329425
    [Abstract] [Full Text] [Related]

  • 4. Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
    Leshinsky-Silver E, Perach M, Basilevsky E, Hershkovitz E, Yanoov-Sharav M, Lerman-Sagie T, Lev D.
    Prenat Diagn; 2003 Jan; 23(1):31-3. PubMed ID: 12533809
    [Abstract] [Full Text] [Related]

  • 5. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.
    Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M.
    J Neurol Neurosurg Psychiatry; 1997 Jul; 63(1):16-22. PubMed ID: 9221962
    [Abstract] [Full Text] [Related]

  • 6. Movement disorders in mitochondrial diseases.
    Tranchant C, Anheim M.
    Rev Neurol (Paris); 2016 Jul; 172(8-9):524-529. PubMed ID: 27476418
    [Abstract] [Full Text] [Related]

  • 7. Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.
    Ruitenbeek W, Wendel U, Hamel BC, Trijbels JM.
    J Inherit Metab Dis; 1996 Jul; 19(4):581-7. PubMed ID: 8884581
    [Abstract] [Full Text] [Related]

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  • 9. Maternal inheritance and the evaluation of oxidative phosphorylation diseases.
    Shoffner JM.
    Lancet; 1996 Nov 09; 348(9037):1283-8. PubMed ID: 8909383
    [Abstract] [Full Text] [Related]

  • 10. The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.
    Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE.
    Brain; 1995 Jun 09; 118 ( Pt 3)():721-34. PubMed ID: 7600089
    [Abstract] [Full Text] [Related]

  • 11. Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies.
    Qi Y, Zhang Y, Wang Z, Yang Y, Yuan Y, Niu S, Pei P, Wang S, Ma Y, Bu D, Zou L, Fang F, Xiao J, Sun F, Zhang Y, Wu Y, Wang S, Xiong H, Wu X.
    Mitochondrion; 2007 Jun 09; 7(1-2):147-50. PubMed ID: 17276742
    [Abstract] [Full Text] [Related]

  • 12. Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
    Wani AA, Ahanger SH, Bapat SA, Rangrez AY, Hingankar N, Suresh CG, Barnabas S, Patole MS, Shouche YS.
    PLoS One; 2007 Sep 26; 2(9):e942. PubMed ID: 17895983
    [Abstract] [Full Text] [Related]

  • 13. Clinical features of A3243G mitochondrial tRNA mutation.
    Chae JH, Hwang H, Lim BC, Cheong HI, Hwang YS, Kim KJ.
    Brain Dev; 2004 Oct 26; 26(7):459-62. PubMed ID: 15351082
    [Abstract] [Full Text] [Related]

  • 14. Neuroradiologic findings in children with mitochondrial disorders.
    Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H.
    AJNR Am J Neuroradiol; 1998 Feb 26; 19(2):369-77. PubMed ID: 9504497
    [Abstract] [Full Text] [Related]

  • 15. Mitochondrial encephalomyopathies.
    Eymard B, Hauw JJ.
    Curr Opin Neurol Neurosurg; 1992 Dec 26; 5(6):909-16. PubMed ID: 1467585
    [Abstract] [Full Text] [Related]

  • 16. Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.
    Tsao CY, Herman G, Boué DR, Prior TW, Lo WD, Atkin JF, Rusin J.
    J Child Neurol; 2003 Jan 26; 18(1):62-4. PubMed ID: 12661941
    [Abstract] [Full Text] [Related]

  • 17. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
    Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A.
    J Med Genet; 2003 Mar 26; 40(3):188-91. PubMed ID: 12624137
    [Abstract] [Full Text] [Related]

  • 18. Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation.
    Isashiki Y, Nakagawa M, Ohba N, Kamimura K, Sakoda Y, Higuchi I, Izumo S, Osame M.
    Acta Ophthalmol Scand; 1998 Feb 26; 76(1):6-13. PubMed ID: 9541428
    [Abstract] [Full Text] [Related]

  • 19. Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children.
    Lu J, Huang Y.
    Ital J Pediatr; 2013 Sep 26; 39():60. PubMed ID: 24069936
    [Abstract] [Full Text] [Related]

  • 20. [Diagnosis and therapy of mitochondrial diseases].
    Pál E.
    Ideggyogy Sz; 2012 Jul 30; 65(7-8):229-37. PubMed ID: 23074842
    [Abstract] [Full Text] [Related]

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