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COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.
Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG; UK10K Consortium. Pitceathly RD, et al. Among authors: meunier b. JAMA Neurol. 2013 Dec;70(12):1556-61. doi: 10.1001/jamaneurol.2013.3242. JAMA Neurol. 2013. PMID: 24100867
Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma.
Keatley K, Stromei-Cleroux S, Wiltshire T, Rajala N, Burton G, Holt WV, Littlewood DTJ, Briscoe AG, Jung J, Ashkan K, Heales SJ, Pilkington GJ, Meunier B, McGeehan JE, Hargreaves IP, McGeehan RE. Keatley K, et al. Among authors: meunier b. Int J Mol Sci. 2019 Jul 9;20(13):3364. doi: 10.3390/ijms20133364. Int J Mol Sci. 2019. PMID: 31323957 Free PMC article.
556 results