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

Year Number of Results
2002 1
2003 1
2006 2
2008 1
2009 3
2010 1
2011 1
2012 1
2013 2
2014 3
2015 1
2017 1
2018 2
2019 3
2020 5
2021 1
2023 1
2024 0

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PubMed (GeneRIF) for id: 50

28 results

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Page 1
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Neumann MA, Grossmann D, Schimpf-Linzenbold S, Dayan D, Stingl K, Ben-Menachem R, Pines O, Massart F, Delcambre S, Ghelfi J, Bohler J, Strom T, Kessel A, Azem A, Schöls L, Grünewald A, Wissinger B, Krüger R. Neumann MA, et al. Sci Rep. 2020 Oct 7;10(1):16736. doi: 10.1038/s41598-020-73557-4. Sci Rep. 2020. PMID: 33028849 Free PMC article.
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC. Blackburn PR, et al. Ann Clin Transl Neurol. 2020 Jun;7(6):1013-1028. doi: 10.1002/acn3.51074. Epub 2020 Jun 9. Ann Clin Transl Neurol. 2020. PMID: 32519519 Free PMC article.
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Ceccatelli Berti C, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Schöls L, Shalev S, Khayat M, Mahajnah M, Spiegel R. Sharkia R, et al. J Inherit Metab Dis. 2019 Mar;42(2):264-275. doi: 10.1002/jimd.12022. Epub 2019 Jan 28. J Inherit Metab Dis. 2019. PMID: 30689204
28 results