de Coo R - Search Results

1

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.

Leary SC, Cobine PA, Nishimura T, Verdijk RM, de Krijger R, de Coo R, Tarnopolsky MA, Winge DR, Shoubridge EA. Leary SC, et al. Among authors: de krijger r, de coo r. Mol Biol Cell. 2013 Mar;24(6):683-91. doi: 10.1091/mbc.E12-09-0705. Epub 2013 Jan 23. Mol Biol Cell. 2013. PMID: 23345593 Free PMC article.

2

Phenotypic consequences of a novel SCO2 gene mutation.

Verdijk RM, de Krijger R, Schoonderwoerd K, Tiranti V, Smeets H, Govaerts LC, de Coo R. Verdijk RM, et al. Among authors: de krijger r, de coo r. Am J Med Genet A. 2008 Nov 1;146A(21):2822-7. doi: 10.1002/ajmg.a.32523. Am J Med Genet A. 2008. PMID: 18924171

3

Cardiac involvement in adults with m.3243A>G MELAS gene mutation.

Vydt TC, de Coo RF, Soliman OI, Ten Cate FJ, van Geuns RJ, Vletter WB, Schoonderwoerd K, van den Bosch BJ, Smeets HJ, Geleijnse ML. Vydt TC, et al. Am J Cardiol. 2007 Jan 15;99(2):264-9. doi: 10.1016/j.amjcard.2006.07.089. Epub 2006 Nov 29. Am J Cardiol. 2007. PMID: 17223431

4

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.

Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, de Coo R, van der Kooi A, Smeets H. Gerards M, et al. Among authors: de coo r. Mitochondrion. 2010 Aug;10(5):510-5. doi: 10.1016/j.mito.2010.05.008. Epub 2010 May 23. Mitochondrion. 2010. PMID: 20580948

5

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Gerards M, et al. Among authors: de koning b, de coo r, de angst i. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18. Brain. 2013. PMID: 23423671

6

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. 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.

7

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Gerards M, de Coo R, Smeets H. Gerards M, et al. Among authors: de coo r. Brain. 2014 Sep;137(Pt 9):e296. doi: 10.1093/brain/awu129. Epub 2014 May 30. Brain. 2014. PMID: 24878501 No abstract available.

8

Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout mice.

van den Bosch BJ, van den Burg CM, Schoonderwoerd K, Lindsey PJ, Scholte HR, de Coo RF, van Rooij E, Rockman HA, Doevendans PA, Smeets HJ. van den Bosch BJ, et al. Among authors: de coo rf. Cardiovasc Res. 2005 Feb 1;65(2):411-8. doi: 10.1016/j.cardiores.2004.10.025. Cardiovasc Res. 2005. PMID: 15639480

9

Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3).

de Coo RF, Buddiger P, Smeets HJ, van Oost BA. de Coo RF, et al. Genomics. 1997 Oct 15;45(2):434-7. doi: 10.1006/geno.1997.4930. Genomics. 1997. PMID: 9344673

10

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

van Den Bosch BJ, de Coo RF, Scholte HR, Nijland JG, van Den Bogaard R, de Visser M, de Die-Smulders CE, Smeets HJ. van Den Bosch BJ, et al. Among authors: de coo rf, de visser m, de die smulders ce. Nucleic Acids Res. 2000 Oct 15;28(20):E89. doi: 10.1093/nar/28.20.e89. Nucleic Acids Res. 2000. PMID: 11024191 Free PMC article.

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