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Journal Abstract Search

144 related items for PubMed ID: 9631394

  • 1.
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  • 2. 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
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  • 4. High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.
    Tsao CY, Mendell JR, Bartholomew D.
    J Child Neurol; 2001 Jul; 16(7):533-5. PubMed ID: 11453454
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  • 6. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.
    Rojo A, Campos Y, Sánchez JM, Bonaventura I, Aguilar M, García A, González L, Rey MJ, Arenas J, Olivé M, Ferrer I.
    Acta Neuropathol; 2006 Jun; 111(6):610-6. PubMed ID: 16525806
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  • 9. 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; 8(2):129-33. PubMed ID: 8505474
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  • 10. 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; 107(7):1397-402. PubMed ID: 10889120
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  • 12. Systems analysis of energy metabolism elucidates the affected respiratory chain complex in Leigh's syndrome.
    Vo TD, Paul Lee WN, Palsson BO.
    Mol Genet Metab; 2007 May; 91(1):15-22. PubMed ID: 17336115
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  • 15. A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
    Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S.
    Neurology; 1994 May; 44(5):972-4. PubMed ID: 8190310
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  • 17. [An adult case of Leigh's subacute necrotizing encephalomyelopathy].
    Reynaud P, Loiseau H, Coquet M, Vital C, Loiseau P.
    Rev Neurol (Paris); 1988 May; 144(4):259-65. PubMed ID: 3047833
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  • 18. Leigh syndrome presenting with dystonia: report of one case.
    Huang WY, Chi CS, Mak SC, Wu HM, Yang MT.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1995 May; 36(5):378-81. PubMed ID: 8607367
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