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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2008 | 2 |
2009 | 2 |
2010 | 2 |
2024 | 0 |
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6 results
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Page 1
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.
MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake.
Perocchi F, Gohil VM, Girgis HS, Bao XR, McCombs JE, Palmer AE, Mootha VK.
Perocchi F, et al.
Nature. 2010 Sep 16;467(7313):291-6. doi: 10.1038/nature09358. Epub 2010 Aug 8.
Nature. 2010.
PMID: 20693986
Free PMC article.
Item in Clipboard
A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis.
Baughman JM, Nilsson R, Gohil VM, Arlow DH, Gauhar Z, Mootha VK.
Baughman JM, et al.
PLoS Genet. 2009 Aug;5(8):e1000590. doi: 10.1371/journal.pgen.1000590. Epub 2009 Aug 14.
PLoS Genet. 2009.
PMID: 19680543
Free PMC article.
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Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
Calvo SE, Pagliarini DJ, Mootha VK.
Calvo SE, et al.
Proc Natl Acad Sci U S A. 2009 May 5;106(18):7507-12. doi: 10.1073/pnas.0810916106. Epub 2009 Apr 16.
Proc Natl Acad Sci U S A. 2009.
PMID: 19372376
Free PMC article.
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Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR.
Sugiana C, et al.
Am J Hum Genet. 2008 Oct;83(4):468-78. doi: 10.1016/j.ajhg.2008.09.009.
Am J Hum Genet. 2008.
PMID: 18940309
Free PMC article.
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A mitochondrial protein compendium elucidates complex I disease biology.
Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK.
Pagliarini DJ, et al.
Cell. 2008 Jul 11;134(1):112-23. doi: 10.1016/j.cell.2008.06.016.
Cell. 2008.
PMID: 18614015
Free PMC article.
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