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Results: 1 to 20 of 121

1.

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

Körver-Keularts IM, de Visser M, Bakker HD, Wanders RJ, Vansenne F, Scholte HR, Dorland L, Nicolaes GA, Spaapen LM, Smeets HJ, Hendrickx AT, van den Bosch BJ.

JIMD Rep. 2015;22:39-45. doi: 10.1007/8904_2015_409. Epub 2015 Mar 3.

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.

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

3.
4.

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.

Brain. 2011 Jan;134(Pt 1):210-9. doi: 10.1093/brain/awq273. Epub 2010 Oct 7.

5.

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.

J Med Genet. 2010 Aug;47(8):507-12. doi: 10.1136/jmg.2009.067553. Epub 2009 Jun 18.

6.

Correct assay of complex I activity in human skin fibroblasts by timely addition of rotenone.

de Wit LE, Scholte HR, Sluiter W.

Clin Chem. 2008 Nov;54(11):1921-2; author reply 1922-4. doi: 10.1373/clinchem.2008.104802. No abstract available.

7.

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.

J Immunol Methods. 2007 Sep 30;326(1-2):76-82. Epub 2007 Aug 1.

PMID:
17706244
8.

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, la Marca G, Scholte HR, Genuardi M, Zammarchi E.

Ann Hum Genet. 2007 Nov;71(Pt 6):705-12. Epub 2007 May 29.

PMID:
17535268
9.
10.

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.

Mol Hum Reprod. 2005 Mar;11(3):223-8. Epub 2005 Feb 11.

11.

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.

Cardiovasc Res. 2005 Feb 1;65(2):411-8.

12.

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.

Neuromuscul Disord. 2004 Oct;14(10):683-8.

PMID:
15351426
13.

Exploratory open label, randomized study of acetyl- and propionylcarnitine in chronic fatigue syndrome.

Vermeulen RC, Scholte HR.

Psychosom Med. 2004 Mar-Apr;66(2):276-82.

PMID:
15039515
14.

Chronic fatigue syndrome and sexual dysfunction.

Vermeulen RC, Scholte HR.

J Psychosom Res. 2004 Feb;56(2):199-201.

PMID:
15016578
15.

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.

J Inherit Metab Dis. 2004;27(1):47-55.

PMID:
14970745
16.

Rupture of silicone gel breast implants and symptoms of pain and fatigue.

Vermeulen RC, Scholte HR.

J Rheumatol. 2003 Oct;30(10):2263-7.

PMID:
14528527
17.

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.

Smeets RJ, Smeitink JA, Semmekrot BA, Scholte HR, Wanders RJ, van den Heuvel LP.

J Hum Genet. 2003;48(1):8-13.

PMID:
12560872
18.

Efficacy of carnitine in the treatment of children with attention-deficit hyperactivity disorder.

Van Oudheusden LJ, Scholte HR.

Prostaglandins Leukot Essent Fatty Acids. 2002 Jul;67(1):33-8.

PMID:
12213433
19.

Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit.

Williams SL, Scholte HR, Gray RG, Leonard JV, Schapira AH, Taanman JW.

Lab Invest. 2001 Aug;81(8):1069-77.

PMID:
11502858
20.
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