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Journal Abstract Search

107 related items for PubMed ID: 28371264

  • 1. Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.
    Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG.
    Am J Med Genet A; 2017 May; 173(5):1452. PubMed ID: 28371264
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  • 2. NDUFS4-related Leigh syndrome in Hutterites.
    Finsterer J, Zarrouk-Mahjoub S.
    Am J Med Genet A; 2017 May; 173(5):1450-1451. PubMed ID: 28371352
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  • 4. A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.
    Anderson SL, Chung WK, Frezzo J, Papp JC, Ekstein J, DiMauro S, Rubin BY.
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S461-7. PubMed ID: 19107570
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  • 5. Ndufs4 related Leigh syndrome: A case report and review of the literature.
    Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B.
    Mitochondrion; 2016 May; 28():73-8. PubMed ID: 27079373
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  • 13. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
    Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A.
    J Med Genet; 2003 Mar; 40(3):188-91. PubMed ID: 12624137
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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; 81(1):90-3. PubMed ID: 20019223
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  • 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; 96(2):59-65. PubMed ID: 19062322
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  • 16. 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; 161A(8):2020-3. PubMed ID: 23813926
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  • 18. Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.
    Petruzzella V, Panelli D, Torraco A, Stella A, Papa S.
    FEBS Lett; 2005 Jul 04; 579(17):3770-6. PubMed ID: 15975579
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  • 20. Orbital rhabdomyosarcoma in a child with Leigh syndrome.
    Li A, Blandford A, Chundury RV, Traboulsi EI, Anderson P, Murphy E, Parikh S, Perry J.
    J AAPOS; 2018 Apr 04; 22(2):150-152.e1. PubMed ID: 29274371
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