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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 1
1999 1
2001 1
2004 1
2008 1
2009 1
2010 1
2011 4
2012 2
2013 2
2016 12
2017 82
2018 82
2019 100
2020 81
2021 86
2022 70
2023 41

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PubMed for id: 452448

500 results

Results by year

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Page 1
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing; Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC. Shahrour MA, et al. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12. Clin Genet. 2017. PMID: 27573165 Free PMC article.
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-Retzow JC, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Mitochondrion. 2011 Nov;11(6):954-63. doi: 10.1016/j.mito.2011.08.012. Epub 2011 Sep 14. Mitochondrion. 2011. PMID: 21945727
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines MA, Cuillerier A, Chakraborty P, Naas T, Duque Lasio ML, Michaud J, Pileggi C, Harper ME, Burelle Y, Toler TL, Sondheimer N, Crawford HP, Millan F, Geraghty MT. Lines MA, et al. Eur J Hum Genet. 2021 Nov;29(11):1719-1724. doi: 10.1038/s41431-021-00956-0. Epub 2021 Sep 6. Eur J Hum Genet. 2021. PMID: 34483339 Free PMC article.
500 results