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Journal Abstract Search

161 related items for PubMed ID: 21982779

  • 21. A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
    Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N, Kammoun T, Hachicha M, Fakhfakh F.
    Biochem Biophys Res Commun; 2011 Jan 07; 404(1):504-10. PubMed ID: 21144833
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  • 22. Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.
    Debray FG, Lambert M, Allard P, Mitchell GA.
    J Child Neurol; 2010 Aug 07; 25(8):1000-2. PubMed ID: 20472868
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  • 23. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
    Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG.
    Ann Neurol; 2003 Nov 07; 54(5):665-9. PubMed ID: 14595656
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  • 24. Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
    Baertling F, Sánchez-Caballero L, Timal S, van den Brand MA, Ngu LH, Distelmaier F, Rodenburg RJ, Nijtmans LG.
    Mol Genet Metab; 2017 Mar 07; 120(3):243-246. PubMed ID: 27986404
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  • 25. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
    Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ, FORGE Canada Consortium, Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME.
    Hum Mutat; 2014 Nov 07; 35(11):1285-9. PubMed ID: 25130867
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  • 26. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.
    Williams SL, Taanman JW, Hansíková H, Houst'ková H, Chowdhury S, Zeman J, Houstek J.
    Mol Genet Metab; 2001 Aug 07; 73(4):340-3. PubMed ID: 11509016
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  • 27. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis.
    Taylor RW, Chinnery PF, Bates MJ, Jackson MJ, Johnson MA, Andrews RM, Turnbull DM.
    Biochem Biophys Res Commun; 1998 Feb 04; 243(1):47-51. PubMed ID: 9473477
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  • 28. 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 04; 23(1):31-3. PubMed ID: 12533809
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  • 29. Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.
    Uittenbogaard M, Brantner CA, Fang Z, Wong LC, Gropman A, Chiaramello A.
    Mol Genet Metab; 2018 May 04; 124(1):71-81. PubMed ID: 29602698
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  • 30. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
    Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S.
    PLoS Genet; 2015 Mar 04; 11(3):e1005097. PubMed ID: 25807530
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  • 35. A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
    Akagi M, Inui K, Tsukamoto H, Sakai N, Muramatsu T, Yamada M, Matsuzaki K, Goto Y, Nonaka I, Okada S.
    Neuromuscul Disord; 2002 Jan 04; 12(1):53-5. PubMed ID: 11731285
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  • 36. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
    Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS.
    Ann Clin Transl Neurol; 2019 Mar 04; 6(3):515-524. PubMed ID: 30911575
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  • 37. Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
    Castagna AE, Addis J, McInnes RR, Clarke JT, Ashby P, Blaser S, Robinson BH.
    Am J Med Genet A; 2007 Apr 15; 143A(8):808-16. PubMed ID: 17352390
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