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NDUFA2 complex I mutation leads to Leigh disease.
Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007.
Am J Hum Genet. 2008.
PMID: 18513682
Free PMC article.
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG.
Saada A, et al. Among authors: hoefs sj.
Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21.
Am J Hum Genet. 2009.
PMID: 19463981
Free PMC article.
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Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.
Hoefs SJ, Dieteren CE, Rodenburg RJ, Naess K, Bruhn H, Wibom R, Wagena E, Willems PH, Smeitink JA, Nijtmans LG, van den Heuvel LP.
Hoefs SJ, et al.
Hum Mutat. 2009 Jul;30(7):E728-36. doi: 10.1002/humu.21037.
Hum Mutat. 2009.
PMID: 19384974
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Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
Hoefs SJ, Skjeldal OH, Rodenburg RJ, Nedregaard B, van Kaauwen EP, Spiekerkötter U, von Kleist-Retzow JC, Smeitink JA, Nijtmans LG, van den Heuvel LP.
Hoefs SJ, et al.
Mol Genet Metab. 2010 Jul;100(3):251-6. doi: 10.1016/j.ymgme.2010.03.015. Epub 2010 Mar 21.
Mol Genet Metab. 2010.
PMID: 20382551
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NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP.
Hoefs SJ, et al.
Eur J Hum Genet. 2011 Mar;19(3):270-4. doi: 10.1038/ejhg.2010.204. Epub 2010 Dec 8.
Eur J Hum Genet. 2011.
PMID: 21150889
Free PMC article.
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Molecular base of biochemical complex I deficiency.
Hoefs SJ, Rodenburg RJ, Smeitink JA, van den Heuvel LP.
Hoefs SJ, et al.
Mitochondrion. 2012 Sep;12(5):520-32. doi: 10.1016/j.mito.2012.07.106. Epub 2012 Jul 20.
Mitochondrion. 2012.
PMID: 22820119
Review.
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Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel RO.
Nouws J, et al.
Cell Metab. 2010 Sep 8;12(3):283-94. doi: 10.1016/j.cmet.2010.08.002.
Cell Metab. 2010.
PMID: 20816094
Free article.
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