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Journal Abstract Search

460 related items for PubMed ID: 19714555

  • 1. [Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family].
    Gutiérrez A, Saldaña-Martínez A, García-Ramírez R, Rayo-Mares D, Carreras M, López-Pérez MJ, Ruiz-Pesini E, Montoya J, Montiel-Sosa JF.
    Rev Neurol; ; 49(5):248-50. PubMed ID: 19714555
    [Abstract] [Full Text] [Related]

  • 2. 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; 48(1):102-4. PubMed ID: 10894222
    [Abstract] [Full Text] [Related]

  • 3. [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; 2000 Jul; 34(12):1124-6. PubMed ID: 12134275
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
    Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S.
    Ann Neurol; 1993 Dec 05; 34(6):827-34. PubMed ID: 8250532
    [Abstract] [Full Text] [Related]

  • 6. 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 05; 13(6):550-2. PubMed ID: 19046652
    [Abstract] [Full Text] [Related]

  • 7. Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
    Taylor RW, Morris AA, Hutchinson M, Turnbull DM.
    Eur J Hum Genet; 2002 Feb 05; 10(2):141-4. PubMed ID: 11938446
    [Abstract] [Full Text] [Related]

  • 8. 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 05; 30(2):145-6. PubMed ID: 11799391
    [Abstract] [Full Text] [Related]

  • 9. Mitochondrial disorders.
    DiMauro S, Andreu AL, De Vivo DC.
    J Child Neurol; 2002 Dec 05; 17 Suppl 3():3S35-45; discussion 3S46-7. PubMed ID: 12597054
    [Abstract] [Full Text] [Related]

  • 10. Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
    Leshinsky-Silver E, Perach M, Basilevsky E, Hershkovitz E, Yanoov-Sharav M, Lerman-Sagie T, Lev D.
    Prenat Diagn; 2003 Jan 05; 23(1):31-3. PubMed ID: 12533809
    [Abstract] [Full Text] [Related]

  • 11. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
    Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA.
    Brain; 2007 Mar 05; 130(Pt 3):862-74. PubMed ID: 17301081
    [Abstract] [Full Text] [Related]

  • 12. [A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].
    Wei XQ, Kong QP, Zhang Y, Yang YL, Chang XZ, Qi Y, Qi ZY, Xiao JX, Qin J, Wu XR.
    Zhongguo Dang Dai Er Ke Za Zhi; 2009 May 05; 11(5):333-6. PubMed ID: 19470250
    [Abstract] [Full Text] [Related]

  • 13. Genotype-phenotype correlation of maternally inherited disorders due to mutations in mitochondrial DNA.
    Thajeb P, Dai D, Chiang MF, Shyu WC.
    Taiwan J Obstet Gynecol; 2006 Sep 05; 45(3):201-7. PubMed ID: 17175464
    [Abstract] [Full Text] [Related]

  • 14. Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.
    Vanniarajan A, Rajshekher GP, Joshi MB, Reddy AG, Singh L, Thangaraj K.
    Acta Neurol Scand; 2006 Nov 05; 114(5):350-3. PubMed ID: 17022785
    [Abstract] [Full Text] [Related]

  • 15. Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.
    Wang J, Brautbar A, Chan AK, Dzwiniel T, Li FY, Waters PJ, Graham BH, Wong LJ.
    Mol Genet Metab; 2009 Feb 05; 96(2):59-65. PubMed ID: 19062322
    [Abstract] [Full Text] [Related]

  • 16. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
    Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR.
    Ann Neurol; 2003 Oct 05; 54(4):473-8. PubMed ID: 14520659
    [Abstract] [Full Text] [Related]

  • 17. 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 05; 111(6):610-6. PubMed ID: 16525806
    [Abstract] [Full Text] [Related]

  • 18. A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.
    Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL.
    Mitochondrion; 2013 Nov 05; 13(6):656-61. PubMed ID: 24063851
    [Abstract] [Full Text] [Related]

  • 19. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.
    White SL, Shanske S, Biros I, Warwick L, Dahl HM, Thorburn DR, Di Mauro S.
    Prenat Diagn; 1999 Dec 05; 19(12):1165-8. PubMed ID: 10590437
    [Abstract] [Full Text] [Related]

  • 20. Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family.
    Weerasinghe CAL, Bui BT, Vu TT, Nguyen HT, Phung BK, Nguyen VM, Pham VA, Cao VH, Phan TN.
    Mol Med Rep; 2018 May 05; 17(5):6919-6925. PubMed ID: 29512743
    [Abstract] [Full Text] [Related]

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