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Journal Abstract Search


279 related items for PubMed ID: 23395828

  • 1. Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.
    Martikainen MH, Kytövuori L, Majamaa K.
    Mitochondrion; 2013 Mar; 13(2):83-6. PubMed ID: 23395828
    [Abstract] [Full Text] [Related]

  • 2. Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.
    Cox R, Platt J, Chen LC, Tang S, Wong LJ, Enns GM.
    Mitochondrion; 2012 Mar; 12(2):258-61. PubMed ID: 21982779
    [Abstract] [Full Text] [Related]

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

  • 4. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.
    Chalmers RM, Lamont PJ, Nelson I, Ellison DW, Thomas NH, Harding AE, Hammans SR.
    Neurology; 1997 Aug; 49(2):589-92. PubMed ID: 9270602
    [Abstract] [Full Text] [Related]

  • 5. The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.
    Leng Y, Liu Y, Fang X, Li Y, Yu L, Yuan Y, Wang Z.
    Mitochondrial DNA; 2015 Apr; 26(2):208-12. PubMed ID: 24708134
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure.
    Mak SC, Chi CS, Tsai CR.
    J Child Neurol; 1998 Jul; 13(7):349-51. PubMed ID: 9701486
    [No Abstract] [Full Text] [Related]

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  • 9. [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; 1998 Jul; 34(12):1124-6. PubMed ID: 12134275
    [Abstract] [Full Text] [Related]

  • 10. 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; 117(3):300-12. PubMed ID: 26725255
    [Abstract] [Full Text] [Related]

  • 11. Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.
    Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Zhang Y, Song JQ, Wang YJ, Yang YL.
    Mitochondrial DNA; 2013 Feb; 24(1):67-73. PubMed ID: 22947169
    [Abstract] [Full Text] [Related]

  • 12. Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
    Taylor RW, Morris AA, Hutchinson M, Turnbull DM.
    Eur J Hum Genet; 2002 Feb; 10(2):141-4. PubMed ID: 11938446
    [Abstract] [Full Text] [Related]

  • 13. Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.
    Sobreira C, Marques W, Pontes Neto OM, Santos AC, Pina Neto JM, Barreira AA.
    J Neurol Sci; 2009 Mar 15; 278(1-2):132-4. PubMed ID: 19144360
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 97(4):416-22. PubMed ID: 10208283
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 19(4):357-61. PubMed ID: 23918514
    [Abstract] [Full Text] [Related]

  • 16. Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
    Negishi Y, Hattori A, Takeshita E, Sakai C, Ando N, Ito T, Goto Y, Saitoh S.
    J Hum Genet; 2014 Jul 15; 59(7):405-7. PubMed ID: 24830958
    [Abstract] [Full Text] [Related]

  • 17. Mild clinical manifestation and unusual recovery upon coenzyme Q₁₀ treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A.
    Chen Z, Zhao Z, Ye Q, Chen Y, Pan X, Sun B, Huang H, Zheng A.
    Mol Med Rep; 2015 Mar 15; 11(3):1956-62. PubMed ID: 25384404
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 53(1):60-2. PubMed ID: 22348497
    [Abstract] [Full Text] [Related]

  • 19. Unusual findings in Leigh syndrome caused by T8993C mutation.
    Yiş U, Seneca S, Dirik E, Kurul SH, Ozer E, Cakmakçi H, De Meirleir L.
    Eur J Paediatr Neurol; 2009 Nov 15; 13(6):550-2. PubMed ID: 19046652
    [Abstract] [Full Text] [Related]

  • 20. Leigh syndrome in an infant resulting from mitochondrial DNA depletion.
    Absalon MJ, Harding CO, Fain DR, Li L, Mack KJ.
    Pediatr Neurol; 2001 Jan 15; 24(1):60-3. PubMed ID: 11182283
    [Abstract] [Full Text] [Related]


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