Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

232 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA. Wanschers BF, et al. Among authors: jonckheere a. Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9. Hum Mol Genet. 2014. PMID: 25008109
Mitochondrial ATP synthase: architecture, function and pathology.
Jonckheere AI, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. J Inherit Metab Dis. 2012 Mar;35(2):211-25. doi: 10.1007/s10545-011-9382-9. Epub 2011 Aug 27. J Inherit Metab Dis. 2012. PMID: 21874297 Free PMC article. Review.
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. Jonckheere AI, et al. Mitochondrion. 2011 Nov;11(6):954-63. doi: 10.1016/j.mito.2011.08.012. Epub 2011 Sep 14. Mitochondrion. 2011. PMID: 21945727
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. Jonckheere AI, et al. BMJ Case Rep. 2009;2009:bcr07.2008.0504. doi: 10.1136/bcr.07.2008.0504. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686774 Free PMC article.
232 results