de Coo RF - Search Results

1

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. Among authors: de coo rf. 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

2

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: de coo rf. 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.

3

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. 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

4

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. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18. Brain. 2013. PMID: 23423671

5

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

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

6

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

7

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. Mitochondrion. 2010 Aug;10(5):510-5. doi: 10.1016/j.mito.2010.05.008. Epub 2010 May 23. Mitochondrion. 2010. PMID: 20580948

8

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.

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

The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I.

de Coo RF, Buddiger PA, Smeets HJ, van Oost BA. de Coo RF, et al. Mamm Genome. 1999 Jan;10(1):49-53. doi: 10.1007/s003359900941. Mamm Genome. 1999. PMID: 9892733

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