Janssen AJ - Search Results

1

Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.

Janssen AJ, Trijbels FJ, Sengers RC, Wintjes LT, Ruitenbeek W, Smeitink JA, Morava E, van Engelen BG, van den Heuvel LP, Rodenburg RJ. Janssen AJ, et al. Clin Chem. 2006 May;52(5):860-71. doi: 10.1373/clinchem.2005.062414. Epub 2006 Mar 16. Clin Chem. 2006. PMID: 16543390 Free article.

2

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Janssen AJ, et al. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232

3

High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.

Jonckheere AI, Huigsloot M, Janssen AJ, Kappen AJ, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Among authors: janssen aj. Clin Chem. 2010 Mar;56(3):424-31. doi: 10.1373/clinchem.2009.131441. Epub 2009 Dec 31. Clin Chem. 2010. PMID: 20044447

4

Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.

Janssen AJ, Trijbels FJ, Sengers RC, Smeitink JA, van den Heuvel LP, Wintjes LT, Stoltenborg-Hogenkamp BJ, Rodenburg RJ. Janssen AJ, et al. Clin Chem. 2007 Apr;53(4):729-34. doi: 10.1373/clinchem.2006.078873. Epub 2007 Mar 1. Clin Chem. 2007. PMID: 17332151 Free article.

5

Some practical aspects of providing a diagnostic service for respiratory chain defects.

Janssen AJ, Smeitink JA, van den Heuvel LP. Janssen AJ, et al. Ann Clin Biochem. 2003 Jan;40(Pt 1):3-8. doi: 10.1258/000456303321016114. Ann Clin Biochem. 2003. PMID: 12542905 Review.

6

Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients.

Tan EC, Janssen AJ, Roestenberg P, van den Heuvel LP, Goris RJ, Rodenburg RJ. Tan EC, et al. Among authors: janssen aj. Eur J Pain. 2011 Aug;15(7):708-15. doi: 10.1016/j.ejpain.2010.12.003. Epub 2011 Jan 22. Eur J Pain. 2011. PMID: 21262583

7

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.

Farhoud MH, Nijtmans LG, Wanders RJ, Wessels HJ, Lasonder E, Janssen AJ, Rodenburg RR, van den Heuvel LP, Smeitink JA. Farhoud MH, et al. Among authors: janssen aj. Proteomics. 2012 May;12(9):1349-62. doi: 10.1002/pmic.201100326. Proteomics. 2012. PMID: 22589185

8

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, Cruysberg H, Boelen C, Smeitink J. Morava E, et al. Eur J Pediatr. 2004 Aug;163(8):467-71. doi: 10.1007/s00431-004-1465-2. Epub 2004 May 27. Eur J Pediatr. 2004. PMID: 15168109

9

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.

Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J. Morava E, et al. Am J Med Genet A. 2006 Apr 15;140(8):863-8. doi: 10.1002/ajmg.a.31194. Am J Med Genet A. 2006. PMID: 16532470

10

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome.

Smits B, van den Heuvel L, Knoop H, Küsters B, Janssen A, Borm G, Bleijenberg G, Rodenburg R, van Engelen B. Smits B, et al. Mitochondrion. 2011 Sep;11(5):735-8. doi: 10.1016/j.mito.2011.05.005. Epub 2011 Jun 2. Mitochondrion. 2011. PMID: 21664495

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