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Journal Abstract Search

146 related items for PubMed ID: 22898272

  • 1. [Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene].
    Liu YP, Ma YY, Wu TF, Wang Q, Kong QP, Wei XQ, Zhang Y, Song JQ, Chang XZ, Zhang YH, Xiao JX, Yang YL.
    Zhongguo Dang Dai Er Ke Za Zhi; 2012 Aug; 14(8):561-6. PubMed ID: 22898272
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  • 3. [Leigh syndrome due to mitochondrial respiratory chain complex II deficiency].
    Ma YY, Wu TF, Liu YP, Wang Q, Song JQ, Xiao JX, Jiang YW, Yang YL.
    Zhongguo Dang Dai Er Ke Za Zhi; 2011 Jul; 13(7):569-72. PubMed ID: 21752325
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  • 4. [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; 11(5):333-6. PubMed ID: 19470250
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  • 5. 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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  • 7. Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.
    Levy RJ, Ríos PG, Akman HO, Sciacco M, Vivo DC, DiMauro S.
    J Child Neurol; 2014 Oct 29; 29(10):NP105-10. PubMed ID: 24284231
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  • 9. A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene.
    Li TR, Wang Q, Liu MM, Lv RJ.
    Front Neurol; 2019 Oct 29; 10():347. PubMed ID: 31105631
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  • 11. NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
    Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA.
    Am J Hum Genet; 2018 Mar 01; 102(3):460-467. PubMed ID: 29429571
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  • 13. Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation.
    Na JH, Lee MJ, Lee CH, Lee YM.
    Front Neurol; 2021 Mar 01; 12():752467. PubMed ID: 34956047
    [Abstract] [Full Text] [Related]

  • 14. Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum.
    Grosso S, Carluccio MA, Cardaioli E, Cerase A, Malandrini A, Romano C, Federico A, Dotti MT.
    Brain Dev; 2017 Mar 01; 39(3):261-265. PubMed ID: 27742419
    [Abstract] [Full Text] [Related]

  • 15. Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy.
    Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Ding Y, Song JQ, Shi XY, Zhang WN, Zhao M, Hu LY, Ju J, Wang ZL, Yang YL, Zou LP.
    Brain Dev; 2014 May 01; 36(5):394-8. PubMed ID: 23849264
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  • 16. Mitochondrial respiratory chain disorders in the Old Order Amish population.
    Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J.
    Mol Genet Metab; 2016 Aug 01; 118(4):296-303. PubMed ID: 27344355
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  • 17. Genetic and biochemical findings in Chinese children with Leigh syndrome.
    Ma YY, Wu TF, Liu YP, Wang Q, Song JQ, Li XY, Shi XY, Zhang WN, Zhao M, Hu LY, Yang YL, Zou LP.
    J Clin Neurosci; 2013 Nov 01; 20(11):1591-4. PubMed ID: 23953430
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  • 18. [Enzyme analysis of isolated mitochondrial respiratory chain complex III deficiency].
    Ma YY, Wu TF, Liu YP, Wang Q, Song JQ, Xiao JX, Jiang YW, Yang YL.
    Zhonghua Er Ke Za Zhi; 2011 Nov 01; 49(11):848-52. PubMed ID: 22336309
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  • 19. Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene.
    Borna NN, Kishita Y, Shimura M, Murayama K, Ohtake A, Okazaki Y.
    Mitochondrion; 2024 May 01; 76():101858. PubMed ID: 38437941
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  • 20. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
    Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V.
    Am J Med Genet A; 2007 Jan 01; 143A(1):33-41. PubMed ID: 17152068
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