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Page 1
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
Gerards M, Sluiter W, van den Bosch BJ, de Wit LE, Calis CM, Frentzen M, Akbari H, Schoonderwoerd K, Scholte HR, Jongbloed RJ, Hendrickx AT, de Coo IF, Smeets HJ. Gerards M, et al. Among authors: sluiter w. J Med Genet. 2010 Aug;47(8):507-12. doi: 10.1136/jmg.2009.067553. Epub 2009 Jun 18. J Med Genet. 2010. PMID: 19542079 Free PMC article.
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. Among authors: sluiter w. 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
A simplified and reliable assay for complex I in human blood lymphocytes.
de Wit LE, Spruijt L, Schoonderwoerd GC, de Coo IF, Smeets HJ, Scholte HR, Sluiter W. de Wit LE, et al. Among authors: sluiter w. J Immunol Methods. 2007 Sep 30;326(1-2):76-82. doi: 10.1016/j.jim.2007.07.009. Epub 2007 Aug 1. J Immunol Methods. 2007. PMID: 17706244
Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation.
Nemes A, Geleijnse ML, Sluiter W, Vydt TC, Soliman OI, van Dalen BM, Vletter WB, ten Cate FJ, Smeets HJ, de Coo RF. Nemes A, et al. Among authors: sluiter w. Swiss Med Wkly. 2009 Feb 21;139(7-8):117-20. doi: 10.4414/smw.2009.12390. Swiss Med Wkly. 2009. PMID: 19234880 Free article.
407 results