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Assembly of mitochondrial complex I and defects in disease.
Lazarou M, Thorburn DR, Ryan MT, McKenzie M. Lazarou M, et al. Among authors: mckenzie m. Biochim Biophys Acta. 2009 Jan;1793(1):78-88. doi: 10.1016/j.bbamcr.2008.04.015. Epub 2008 May 4. Biochim Biophys Acta. 2009. PMID: 18501715 Free article. Review.
Understanding mitochondrial complex I assembly in health and disease.
Mimaki M, Wang X, McKenzie M, Thorburn DR, Ryan MT. Mimaki M, et al. Among authors: mckenzie m. Biochim Biophys Acta. 2012 Jun;1817(6):851-62. doi: 10.1016/j.bbabio.2011.08.010. Epub 2011 Sep 2. Biochim Biophys Acta. 2012. PMID: 21924235 Free article. Review.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR. Lim SC, et al. Among authors: mckenzie m. Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462369 Free PMC article.
801 results