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

Year Number of Results
2002 1
2004 3
2005 1
2007 2
2009 1
2010 1
2012 3
2013 1
2015 2
2016 2
2017 2
2018 2
2019 1
2020 1
2021 2
2022 2
2023 1
2024 0

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24 results

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Page 1
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: wiame e. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.
Enzymatic repair of Amadori products.
Van Schaftingen E, Collard F, Wiame E, Veiga-da-Cunha M. Van Schaftingen E, et al. Among authors: wiame e. Amino Acids. 2012 Apr;42(4):1143-50. doi: 10.1007/s00726-010-0780-3. Epub 2010 Oct 22. Amino Acids. 2012. PMID: 20967558 Review.
Fructosamine 3-kinase and other enzymes involved in protein deglycation.
Van Schaftingen E, Delpierre G, Collard F, Fortpied J, Gemayel R, Wiame E, Veiga-da-Cunha M. Van Schaftingen E, et al. Among authors: wiame e. Adv Enzyme Regul. 2007;47:261-9. doi: 10.1016/j.advenzreg.2006.12.002. Epub 2007 Mar 6. Adv Enzyme Regul. 2007. PMID: 17337043 Review. No abstract available.
NAT6 acetylates the N-terminus of different forms of actin.
Wiame E, Tahay G, Tyteca D, Vertommen D, Stroobant V, Bommer GT, Van Schaftingen E. Wiame E, et al. FEBS J. 2018 Sep;285(17):3299-3316. doi: 10.1111/febs.14605. Epub 2018 Aug 13. FEBS J. 2018. PMID: 30028079 Free article.
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg E, Gießelmann S, Dewulf JP, Wiame E, Holz A, Salvarinova R, van Karnebeek CD, Klemm P, Ohl K, Mull M, Braunschweig T, Weis J, Sommer CJ, Demuth S, Haase C, Stollbrink-Peschgens C, Debray FG, Libioulle C, Choukair D, Oommen PT, Borkhardt A, Surowy H, Wieczorek D, Wagner N, Meyer R, Eggermann T, Begemann M, Van Schaftingen E, Häusler M, Tenbrock K, van den Heuvel L, Elbracht M, Kurth I, Kraft F. Lausberg E, et al. Among authors: wiame e. J Clin Invest. 2021 Jun 15;131(12):e143078. doi: 10.1172/JCI143078. J Clin Invest. 2021. PMID: 33945503 Free PMC article.
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M. Dewulf JP, et al. Among authors: wiame e. Ann Neurol. 2019 Mar;85(3):385-395. doi: 10.1002/ana.25412. Epub 2019 Jan 29. Ann Neurol. 2019. PMID: 30635937
24 results