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Page 1
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
van den Bosch BJ, Gerards M, Sluiter W, Stegmann AP, Jongen EL, Hellebrekers DM, Oegema R, Lambrichs EH, Prokisch H, Danhauser K, Schoonderwoerd K, de Coo IF, Smeets HJ. van den Bosch BJ, et al. J Med Genet. 2012 Jan;49(1):10-5. doi: 10.1136/jmedgenet-2011-100466. Epub 2011 Nov 23. J Med Genet. 2012. PMID: 22114105
MLH1 deficiency leads to deregulated mitochondrial metabolism.
Rashid S, Freitas MO, Cucchi D, Bridge G, Yao Z, Gay L, Williams M, Wang J, Suraweera N, Silver A, McDonald SAC, Chelala C, Szabadkai G, Martin SA. Rashid S, et al. Cell Death Dis. 2019 Oct 22;10(11):795. doi: 10.1038/s41419-019-2018-y. Cell Death Dis. 2019. PMID: 31641109 Free PMC article.