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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2010 | 1 |
2011 | 1 |
2012 | 1 |
2013 | 2 |
2018 | 1 |
2024 | 0 |
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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5.
Nat Genet. 2010.
PMID: 20818383
Free PMC article.
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR.
Tucker EJ, et al.
Hum Mutat. 2012 Feb;33(2):411-8. doi: 10.1002/humu.21654. Epub 2011 Dec 22.
Hum Mutat. 2012.
PMID: 22072591
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NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS.
Kevelam SH, et al.
Neurology. 2013 Apr 23;80(17):1577-83. doi: 10.1212/WNL.0b013e31828f1914. Epub 2013 Apr 3.
Neurology. 2013.
PMID: 23553477
Free PMC article.
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Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model.
Wydro MM, Balk J.
Wydro MM, et al.
Dis Model Mech. 2013 Sep;6(5):1279-84. doi: 10.1242/dmm.012682. Epub 2013 Jul 4.
Dis Model Mech. 2013.
PMID: 23828044
Free PMC article.
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Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.
Maclean AE, Kimonis VE, Balk J.
Maclean AE, et al.
Hum Mol Genet. 2018 Nov 1;27(21):3697-3709. doi: 10.1093/hmg/ddy247.
Hum Mol Genet. 2018.
PMID: 29982452
Free PMC article.
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