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Journal Abstract Search

122 related items for PubMed ID: 9061574

  • 1. Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA.
    Seller A, Kennedy CR, Temple IK, Brown GK.
    J Inherit Metab Dis; 1997 Mar; 20(1):102-3. PubMed ID: 9061574
    [No Abstract] [Full Text] [Related]

  • 2. A family with Leigh syndrome caused by the rarer T8993C mutation.
    Chakrapani A, Heptinstall L, Walter J.
    J Inherit Metab Dis; 1998 Aug; 21(6):685-6. PubMed ID: 9762610
    [No Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring.
    Tulinius MH, Houshmand M, Larsson NG, Holme E, Oldfors A, Holmberg E, Wahlström J.
    Hum Genet; 1995 Sep; 96(3):290-4. PubMed ID: 7649544
    [Abstract] [Full Text] [Related]

  • 5. [Leigh syndrome resulting from a de novo mitochondrial DNA mutation (T8993G)].
    Playán A, Solano-Palacios A, González de la Rosa JB, Merino-Arribas JM, Andreu AL, López-Pérez M, Montoya J.
    Rev Neurol; 1995 Sep; 34(12):1124-6. PubMed ID: 12134275
    [Abstract] [Full Text] [Related]

  • 6. 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; 15(1):72-5. PubMed ID: 8858707
    [Abstract] [Full Text] [Related]

  • 7. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.
    Hung PC, Wang HS.
    Dev Med Child Neurol; 2007 Jan; 49(1):65-7. PubMed ID: 17209980
    [Abstract] [Full Text] [Related]

  • 8. A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
    Akagi M, Inui K, Tsukamoto H, Sakai N, Muramatsu T, Yamada M, Matsuzaki K, Goto Y, Nonaka I, Okada S.
    Neuromuscul Disord; 2002 Jan; 12(1):53-5. PubMed ID: 11731285
    [Abstract] [Full Text] [Related]

  • 9. Modeling the Leigh syndrome nt8993 T-->C mutation in Escherichia coli F1F0 ATP synthase.
    Hartzog PE, Gardner JL, Cain BD.
    Int J Biochem Cell Biol; 1999 Jul; 31(7):769-76. PubMed ID: 10467733
    [Abstract] [Full Text] [Related]

  • 10. Cardiac mitochondrial dysfunction in Leigh syndrome.
    Marin-Garcia J, Ananthakrishnan R, Korson M, Goldenthal MJ, Perez-Atayde A.
    Pediatr Cardiol; 1996 Jul; 17(6):387-9. PubMed ID: 8781089
    [Abstract] [Full Text] [Related]

  • 11. A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.
    Degoul F, François D, Diry M, Ponsot G, Desguerre I, Héron B, Marsac C, Moutard ML.
    J Inherit Metab Dis; 1997 Mar; 20(1):49-53. PubMed ID: 9061567
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  • 16. Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions.
    De Praeter C, Vanlander A, Vanhaesebrouck P, Smet J, Seneca S, De Sutter P, Van Coster R.
    Eur J Pediatr; 2015 Feb; 174(2):267-70. PubMed ID: 25009317
    [Abstract] [Full Text] [Related]

  • 17. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
    Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E, De Meirleir L.
    J Inherit Metab Dis; 1998 Feb; 21(1):2-8. PubMed ID: 9501263
    [Abstract] [Full Text] [Related]

  • 18. Inheritance and expression of mitochondrial DNA point mutations.
    Holme E, Tulinius MH, Larsson NG, Oldfors A.
    Biochim Biophys Acta; 1995 May 24; 1271(1):249-52. PubMed ID: 7599216
    [Abstract] [Full Text] [Related]

  • 19. Adult Leigh syndrome with mitochondrial DNA mutation at 8993.
    Nagashima T, Mori M, Katayama K, Nunomura M, Nishihara H, Hiraga H, Tanaka S, Goto Y, Nagashima K.
    Acta Neuropathol; 1999 Apr 24; 97(4):416-22. PubMed ID: 10208283
    [Abstract] [Full Text] [Related]

  • 20. 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 24; 40(3):188-91. PubMed ID: 12624137
    [Abstract] [Full Text] [Related]

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