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Journal Abstract Search

193 related items for PubMed ID: 27000225

  • 21. 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]

  • 22. Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
    Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Falk MJ, Zolkipli-Cunningham Z, Ganetzky R, Vossough A, Goldstein A, Zuccoli G.
    Ann Neurol; 2020 Aug; 88(2):218-232. PubMed ID: 32445240
    [Abstract] [Full Text] [Related]

  • 23. [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; 2020 Aug; 34(12):1124-6. PubMed ID: 12134275
    [Abstract] [Full Text] [Related]

  • 24. 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; 18(1):62-4. PubMed ID: 12661941
    [Abstract] [Full Text] [Related]

  • 25. Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.
    Yu XL, Yan CZ, Ji KQ, Lin PF, Xu XB, Dai TJ, Li W, Zhao YY.
    Chin Med J (Engl); 2018 Nov 20; 131(22):2705-2712. PubMed ID: 30425197
    [Abstract] [Full Text] [Related]

  • 26. Leigh-like syndrome due to OPA1 mutations.
    Finsterer J, Zarrouk-Mahjoub S.
    Eur J Paediatr Neurol; 2017 Nov 20; 21(6):921-922. PubMed ID: 28711503
    [No Abstract] [Full Text] [Related]

  • 27. A novel mitochondrial DNA 8597T>C mutation of Leigh syndrome: report of one case.
    Tsai JD, Liu CS, Tsao TF, Sheu JN.
    Pediatr Neonatol; 2012 Feb 20; 53(1):60-2. PubMed ID: 22348497
    [Abstract] [Full Text] [Related]

  • 28. Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.
    Wang SB, Weng WC, Lee NC, Hwu WL, Fan PC, Lee WT.
    Pediatr Neonatol; 2008 Aug 20; 49(4):145-9. PubMed ID: 19054921
    [Abstract] [Full Text] [Related]

  • 29. The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past.
    Santorelli FM, Tanji K, Shanske S, Krishna S, Schmidt RE, Greenwood RS, DiMauro S, De Vivo DC.
    Ann Neurol; 1998 Dec 20; 44(6):962-4. PubMed ID: 9851442
    [Abstract] [Full Text] [Related]

  • 30. Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
    Ogawa E, Fushimi T, Ogawa-Tominaga M, Shimura M, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Kishita Y, Kohda M, Imai-Okazaki A, Okazaki Y, Morioka I, Ohtake A, Murayama K.
    J Inherit Metab Dis; 2020 Jul 20; 43(4):819-826. PubMed ID: 31967322
    [Abstract] [Full Text] [Related]

  • 31. Leigh syndrome in an infant resulting from mitochondrial DNA depletion.
    Absalon MJ, Harding CO, Fain DR, Li L, Mack KJ.
    Pediatr Neurol; 2001 Jan 20; 24(1):60-3. PubMed ID: 11182283
    [Abstract] [Full Text] [Related]

  • 32. 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 20; 131(3):447-9. PubMed ID: 9329425
    [Abstract] [Full Text] [Related]

  • 33. Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.
    Fujii T, Hattori H, Higuchi Y, Tsuji M, Mitsuyoshi I.
    Pediatr Neurol; 1998 Mar 20; 18(3):275-7. PubMed ID: 9568930
    [Abstract] [Full Text] [Related]

  • 34. Dichloroacetate treatment in Leigh syndrome caused by mitochondrial DNA mutation.
    Takanashi J, Sugita K, Tanabe Y, Maemoto T, Niimi H.
    J Neurol Sci; 1997 Jan 20; 145(1):83-6. PubMed ID: 9073033
    [Abstract] [Full Text] [Related]

  • 35. Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
    Gerards M, Sallevelt SC, Smeets HJ.
    Mol Genet Metab; 2016 Mar 20; 117(3):300-12. PubMed ID: 26725255
    [Abstract] [Full Text] [Related]

  • 36. Mitochondrial DNA point mutation T9176C in Leigh syndrome.
    Wilson CJ, Wood NW, Leonard JV, Surtees R, Rahman S.
    J Child Neurol; 2000 Dec 20; 15(12):830-3. PubMed ID: 11198506
    [Abstract] [Full Text] [Related]

  • 37. [MELAS-Leigh superposition syndrome: a case report].
    Yang S, Sun C, Zhu WH.
    Zhonghua Nei Ke Za Zhi; 2020 Feb 01; 59(2):140-143. PubMed ID: 32074688
    [Abstract] [Full Text] [Related]

  • 38. 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 01; 48(1):102-4. PubMed ID: 10894222
    [Abstract] [Full Text] [Related]

  • 39. A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant.
    Ching CK, Mak CM, Au KM, Chan KY, Yuen YP, Yau EK, Ma LC, Chow HL, Chan AY.
    Hong Kong Med J; 2013 Aug 01; 19(4):357-61. PubMed ID: 23918514
    [Abstract] [Full Text] [Related]

  • 40. 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 01; 97(4):416-22. PubMed ID: 10208283
    [Abstract] [Full Text] [Related]

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