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Items: 9

1.

Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity.

Sente T, Van Berendoncks AM, Jonckheere AI, Rodenburg RJ, Lauwers P, Van Hoof V, Wouters A, Lardon F, Hoymans VY, Vrints CJ.

BMC Cardiovasc Disord. 2016 May 26;16:107. doi: 10.1186/s12872-016-0278-3.

2.

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

Blanchet L, Smeitink JA, van Emst-de Vries SE, Vogels C, Pellegrini M, Jonckheere AI, Rodenburg RJ, Buydens LM, Beyrath J, Willems PH, Koopman WJ.

Sci Rep. 2015 Jan 26;5:8035. doi: 10.1038/srep08035.

3.

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ.

Brain. 2013 May;136(Pt 5):1544-54. doi: 10.1093/brain/awt086. Epub 2013 Apr 18.

PMID:
23599390
4.

Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?

Koene S, Wortmann SB, de Vries MC, Jonckheere AI, Morava E, de Groot IJ, Smeitink JA.

Mitochondrion. 2013 Jan;13(1):15-24. doi: 10.1016/j.mito.2012.11.002. Epub 2012 Nov 17.

PMID:
23164801
5.

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.

Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-Retzow JC, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ.

Mitochondrion. 2011 Nov;11(6):954-63. doi: 10.1016/j.mito.2011.08.012. Epub 2011 Sep 14.

PMID:
21945727
6.

Mitochondrial ATP synthase: architecture, function and pathology.

Jonckheere AI, Smeitink JA, Rodenburg RJ.

J Inherit Metab Dis. 2012 Mar;35(2):211-25. doi: 10.1007/s10545-011-9382-9. Epub 2011 Aug 27. Review.

7.

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.

Clin Chem. 2010 Mar;56(3):424-31. doi: 10.1373/clinchem.2009.131441. Epub 2009 Dec 31.

8.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

Jonckheere AI, Hogeveen M, Nijtmans L, van den Brand M, Janssen A, Diepstra H, van den Brandt F, van den Heuvel B, Hol F, Hofste T, Kapusta L, Dillmann U, Shamdeen M, Smeitink J, Smeitink J, Rodenburg R.

BMJ Case Rep. 2009;2009. pii: bcr07.2008.0504. doi: 10.1136/bcr.07.2008.0504. Epub 2009 Jan 23.

9.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ.

J Med Genet. 2008 Mar;45(3):129-33. Epub 2007 Oct 22.

PMID:
17954552

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