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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1996 | 1 |
1999 | 1 |
2004 | 1 |
2007 | 2 |
2016 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 374291
6 results
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Page 1
High-throughput discovery of novel developmental phenotypes.
Nature. 2016 Sep 22;537(7621):508-514. doi: 10.1038/nature19356. Epub 2016 Sep 14.
Nature. 2016.
PMID: 27626380
Free PMC article.
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
Lebon S, Minai L, Chretien D, Corcos J, Serre V, Kadhom N, Steffann J, Pauchard JY, Munnich A, Bonnefont JP, Rötig A.
Lebon S, et al.
Mol Genet Metab. 2007 Sep-Oct;92(1-2):104-8. doi: 10.1016/j.ymgme.2007.05.010. Epub 2007 Jun 28.
Mol Genet Metab. 2007.
PMID: 17604671
Item in Clipboard
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.
Lebon S, Rodriguez D, Bridoux D, Zerrad A, Rötig A, Munnich A, Legrand A, Slama A.
Lebon S, et al.
Mol Genet Metab. 2007 Apr;90(4):379-82. doi: 10.1016/j.ymgme.2006.12.007. Epub 2007 Feb 1.
Mol Genet Metab. 2007.
PMID: 17275378
Item in Clipboard
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
Visch HJ, Rutter GA, Koopman WJ, Koenderink JB, Verkaart S, de Groot T, Varadi A, Mitchell KJ, van den Heuvel LP, Smeitink JA, Willems PH.
Visch HJ, et al.
J Biol Chem. 2004 Sep 24;279(39):40328-36. doi: 10.1074/jbc.M408068200. Epub 2004 Jul 21.
J Biol Chem. 2004.
PMID: 15269216
Free article.
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Human mitochondrial complex I in health and disease.
Smeitink J, van den Heuvel L.
Smeitink J, et al.
Am J Hum Genet. 1999 Jun;64(6):1505-10. doi: 10.1086/302432.
Am J Hum Genet. 1999.
PMID: 10330338
Free PMC article.
Review.
No abstract available.
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Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13.
Hyslop SJ, Duncan AM, Pitkänen S, Robinson BH.
Hyslop SJ, et al.
Genomics. 1996 Nov 1;37(3):375-80. doi: 10.1006/geno.1996.0572.
Genomics. 1996.
PMID: 8938450
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