Scholte HR - Search Results

1

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.

Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rötig A, de Coo IF, Smeets HJ. Gerards M, et al. Among authors: scholte hr. Brain. 2011 Jan;134(Pt 1):210-9. doi: 10.1093/brain/awq273. Epub 2010 Oct 7. Brain. 2011. PMID: 20929961

2

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

3

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: scholte hr. 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.

4

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

Theunissen TEJ, Gerards M, Hellebrekers DMEI, van Tienen FH, Kamps R, Sallevelt SCEH, Hartog ENMM, Scholte HR, Verdijk RM, Schoonderwoerd K, de Coo IFM, Szklarczyk R, Smeets HJM. Theunissen TEJ, et al. Among authors: scholte hr. Front Mol Neurosci. 2017 Oct 18;10:336. doi: 10.3389/fnmol.2017.00336. eCollection 2017. Front Mol Neurosci. 2017. PMID: 29093663 Free PMC article.

5

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: scholte hr. Cardiovasc Res. 2005 Feb 1;65(2):411-8. doi: 10.1016/j.cardiores.2004.10.025. Cardiovasc Res. 2005. PMID: 15639480

6

A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.

de Coo IF, Sistermans EA, de Wijs IJ, Catsman-Berrevoets C, Busch HF, Scholte HR, de Klerk JB, van Oost BA, Smeets HJ. de Coo IF, et al. Among authors: scholte hr. Neurology. 1998 Jan;50(1):293-5. doi: 10.1212/wnl.50.1.293. Neurology. 1998. PMID: 9443499

7

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.

Jacobs LJ, Jongbloed RJ, Wijburg FA, de Klerk JB, Geraedts JP, Nijland JG, Scholte HR, de Coo IF, Smeets HJ. Jacobs LJ, et al. Among authors: scholte hr. J Inherit Metab Dis. 2004;27(1):47-55. doi: 10.1023/B:BOLI.0000016601.49372.18. J Inherit Metab Dis. 2004. PMID: 14970745

8

Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene.

van den Bosch BJ, de Coo IF, Hendrickx AT, Busch HF, de Jong G, Scholte HR, Smeets HJ. van den Bosch BJ, et al. Among authors: scholte hr. Neuromuscul Disord. 2004 Oct;14(10):683-8. doi: 10.1016/j.nmd.2004.06.004. Neuromuscul Disord. 2004. PMID: 15351426

9

Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.

Jacobs LJ, de Coo IF, Nijland JG, Galjaard RJ, Los FJ, Schoonderwoerd K, Niermeijer MF, Geraedts JP, Scholte HR, Smeets HJ. Jacobs LJ, et al. Among authors: scholte hr. Mol Hum Reprod. 2005 Mar;11(3):223-8. doi: 10.1093/molehr/gah152. Epub 2005 Feb 11. Mol Hum Reprod. 2005. PMID: 15709156

10

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: scholte hr. 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

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