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Journal Abstract Search

324 related items for PubMed ID: 8250532

  • 21. 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]

  • 22. Leigh syndrome: clinical features and biochemical and DNA abnormalities.
    Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR.
    Ann Neurol; 1996 Mar; 39(3):343-51. PubMed ID: 8602753
    [Abstract] [Full Text] [Related]

  • 23. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
    McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM.
    Nat Genet; 2002 Feb; 30(2):145-6. PubMed ID: 11799391
    [Abstract] [Full Text] [Related]

  • 24. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
    Yang YL, Sun F, Zhang Y, Qian N, Yuan Y, Wang ZX, Qi Y, Xiao JX, Wang XY, Qi ZY, Zhang YH, Jiang YW, Bao XH, Qin J, Wu XR.
    Chin Med J (Engl); 2006 Mar 05; 119(5):373-7. PubMed ID: 16542579
    [Abstract] [Full Text] [Related]

  • 25. [Mitochondrial diseases--more common than we realize?].
    Skjeldal OH, Skullerud K.
    Tidsskr Nor Laegeforen; 1991 Jan 20; 111(2):177-9. PubMed ID: 1998173
    [Abstract] [Full Text] [Related]

  • 26. [Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation].
    Zhao J, Zhao DH, Zhang W, Lü H, Yuan Y, Qi Y, Wang ZX.
    Zhonghua Yi Xue Za Zhi; 2012 Oct 30; 92(40):2835-8. PubMed ID: 23290212
    [Abstract] [Full Text] [Related]

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  • 28. Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.
    Makino M, Horai S, Goto Y, Nonaka I.
    Neuromuscul Disord; 1998 May 30; 8(3-4):149-51. PubMed ID: 9631394
    [Abstract] [Full Text] [Related]

  • 29. Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.
    Hayashi N, Geraghty MT, Green WR.
    Ophthalmology; 2000 Jul 30; 107(7):1397-402. PubMed ID: 10889120
    [Abstract] [Full Text] [Related]

  • 30. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.
    Ueki I, Koga Y, Povalko N, Akita Y, Nishioka J, Yatsuga S, Fukiyama R, Matsuishi T.
    Mitochondrion; 2006 Feb 30; 6(1):29-36. PubMed ID: 16337222
    [Abstract] [Full Text] [Related]

  • 31. Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers.
    Mak SC, Chi CS, Liu CY, Pang CY, Wei YH.
    Pediatr Neurol; 1996 Jul 30; 15(1):72-5. PubMed ID: 8858707
    [Abstract] [Full Text] [Related]

  • 32. A novel presentation of inappropriate antidiuretic hormone secretion in Leigh syndrome with the myoclonic epilepsy and ragged red fibers, mitochondrial DNA 8344A>G mutation.
    Swiderska N, Appleton R, Morris A, Isherwood D, Selby A.
    J Child Neurol; 2010 Jun 30; 25(6):782-5. PubMed ID: 20332385
    [Abstract] [Full Text] [Related]

  • 33. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
    Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR.
    Ann Neurol; 2000 Jul 30; 48(1):102-4. PubMed ID: 10894222
    [Abstract] [Full Text] [Related]

  • 34. Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies.
    Song D, Zhang Y, Shi J, Lü Q, Chen J, Zhang H, Zhang W, Wang H, Cai Q.
    Chin Med J (Engl); 2001 Dec 30; 114(12):1273-5. PubMed ID: 11793851
    [Abstract] [Full Text] [Related]

  • 35. Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.
    Diogo L, Cordeiro M, Garcia P, Fineza I, Moura C, Oliveira CR, Veiga M, Garcia T, Grazina M.
    Pediatr Neurol; 2010 Mar 30; 42(3):196-200. PubMed ID: 20159429
    [Abstract] [Full Text] [Related]

  • 36. A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome.
    Yoshinaga H, Ogino T, Ohtahara S, Sakuta R, Nonaka I, Horai S.
    J Child Neurol; 1993 Apr 30; 8(2):129-33. PubMed ID: 8505474
    [Abstract] [Full Text] [Related]

  • 37. Mitochondrial DNA mutation and Leigh's syndrome.
    Sakuta R, Goto Y, Horai S, Ogino T, Yoshinaga H, Ohtahara S, Nonaka I.
    Ann Neurol; 1992 Oct 30; 32(4):597-8. PubMed ID: 1456751
    [No Abstract] [Full Text] [Related]

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  • 39. Mitochondrial syndromes with leukoencephalopathies.
    Wong LJ.
    Semin Neurol; 2012 Feb 30; 32(1):55-61. PubMed ID: 22422207
    [Abstract] [Full Text] [Related]

  • 40.
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