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Results by year

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

Year Number of Results
1987 1
1996 1
1999 1
2000 1
2001 1
2003 2
2005 1
2006 2
2007 2
2008 3
2009 3
2010 5
2011 5
2012 6
2013 7
2014 5
2015 6
2016 5
2017 6
2018 8
2019 4
2020 3
2021 2
2022 2
2023 0

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PubMed for id: 462826

68 results

Results by year

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Page 1
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA. Piekutowska-Abramczuk D, et al. Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429571 Free PMC article.
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Friederich MW, et al. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431. Hum Mol Genet. 2017. PMID: 28040730 Free PMC article.
Cytochrome c oxidase deficiency.
Shoubridge EA. Shoubridge EA. Am J Med Genet. 2001 Spring;106(1):46-52. doi: 10.1002/ajmg.1378. Am J Med Genet. 2001. PMID: 11579424 Review.
68 results