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Journal Abstract Search

183 related items for PubMed ID: 21749722

  • 1. Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.
    Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP.
    BMC Neurol; 2011 Jul 12; 11():85. PubMed ID: 21749722
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  • 3. 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 12; 26(2):208-12. PubMed ID: 24708134
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  • 6. Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
    Na JH, Lee YM.
    Acta Neurol Scand; 2022 Apr 12; 145(4):414-422. PubMed ID: 34877647
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  • 9. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
    Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ.
    J Med Genet; 2007 Apr 12; 44(4):e74. PubMed ID: 17400793
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  • 11. Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.
    Tarnopolsky M, Meaney B, Robinson B, Sheldon K, Boles RG.
    Am J Med Genet A; 2013 Aug 12; 161A(8):2020-3. PubMed ID: 23813926
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  • 12. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
    Maalej M, Kammoun T, Alila-Fersi O, Kharrat M, Ammar M, Felhi R, Mkaouar-Rebai E, Keskes L, Hachicha M, Fakhfakh F.
    Biochem Biophys Res Commun; 2018 Mar 18; 497(4):1043-1048. PubMed ID: 29481804
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  • 13. Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.
    Pelnena D, Burnyte B, Jankevics E, Lace B, Dagyte E, Grigalioniene K, Utkus A, Krumina Z, Rozentale J, Adomaitiene I, Stavusis J, Pliss L, Inashkina I.
    Mitochondrial DNA A DNA Mapp Seq Anal; 2018 Oct 18; 29(7):1115-1120. PubMed ID: 29228836
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  • 14. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.
    Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker JL, Boon P, De Meirleir L, De Jonghe P, Van Coster R, Van Paesschen W, Santens P.
    J Neurol Neurosurg Psychiatry; 2010 Jan 18; 81(1):90-3. PubMed ID: 20019223
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  • 15. 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 18; 59(7):405-7. PubMed ID: 24830958
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  • 16. 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
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  • 17. Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.
    Leshinsky-Silver E, Lev D, Malinger G, Shapira D, Cohen S, Lerman-Sagie T, Saada A.
    Mol Genet Metab; 2010 May 20; 100(1):65-70. PubMed ID: 20202874
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  • 18. Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
    Danhelovska T, Kolarova H, Zeman J, Hansikova H, Vaneckova M, Lambert L, Kucerova-Vidrova V, Berankova K, Honzik T, Tesarova M.
    BMC Pediatr; 2020 Jan 29; 20(1):41. PubMed ID: 31996177
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  • 19. Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome.
    Na JH, Lee YM.
    Pediatr Neurol; 2023 Jan 29; 138():27-32. PubMed ID: 36335839
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  • 20. [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; 2023 Jan 29; 49(5):248-50. PubMed ID: 19714555
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