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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 2 |
2008 | 1 |
2009 | 1 |
2010 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 91942
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.
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.
Herzer M, Koch J, Prokisch H, Rodenburg R, Rauscher C, Radauer W, Forstner R, Pilz P, Rolinski B, Freisinger P, Mayr JA, Sperl W.
Herzer M, et al.
Neuropediatrics. 2010 Feb;41(1):30-4. doi: 10.1055/s-0030-1255062. Epub 2010 Jun 22.
Neuropediatrics. 2010.
PMID: 20571988
Free 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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The unique neuroradiology of complex I deficiency due to NDUFA12L defect.
Barghuti F, Elian K, Gomori JM, Shaag A, Edvardson S, Saada A, Elpeleg O.
Barghuti F, et al.
Mol Genet Metab. 2008 May;94(1):78-82. doi: 10.1016/j.ymgme.2007.11.013. Epub 2008 Jan 3.
Mol Genet Metab. 2008.
PMID: 18180188
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A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
Ogilvie I, Kennaway NG, Shoubridge EA.
Ogilvie I, et al.
J Clin Invest. 2005 Oct;115(10):2784-92. doi: 10.1172/JCI26020.
J Clin Invest. 2005.
PMID: 16200211
Free PMC article.
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A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma.
Tsuneoka M, Teye K, Arima N, Soejima M, Otera H, Ohashi K, Koga Y, Fujita H, Shirouzu K, Kimura H, Koda Y.
Tsuneoka M, et al.
J Biol Chem. 2005 May 20;280(20):19977-85. doi: 10.1074/jbc.M501231200. Epub 2005 Mar 17.
J Biol Chem. 2005.
PMID: 15774466
Free article.
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