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

Year Number of Results
1977 1
1985 2
1986 1
1989 1
1990 1
1993 2
1995 2
1996 2
1998 2
1999 1
2001 1
2002 1
2004 2
2006 1
2007 5
2008 5
2009 9
2010 3
2011 4
2012 7
2013 8
2014 2
2015 2
2016 8
2017 12
2018 12
2019 5
2020 6
2021 1
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92 results
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Page 1
Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Péanne R, et al. Among authors: foulquier f. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079546 Free article. Review.
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Blommaert E, Péanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G. Blommaert E, et al. Among authors: foulquier f. Proc Natl Acad Sci U S A. 2019 May 14;116(20):9865-9870. doi: 10.1073/pnas.1817815116. Epub 2019 Apr 29. Proc Natl Acad Sci U S A. 2019. PMID: 31036665 Free PMC article.
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Among authors: foulquier f. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M. Rujano MA, et al. Among authors: foulquier f. J Exp Med. 2017 Dec 4;214(12):3707-3729. doi: 10.1084/jem.20170453. Epub 2017 Nov 10. J Exp Med. 2017. PMID: 29127204 Free PMC article.
Investigating the functional link between TMEM165 and SPCA1.
Lebredonchel E, Houdou M, Hoffmann HH, Kondratska K, Krzewinski MA, Vicogne D, Rice CM, Klein A, Foulquier F. Lebredonchel E, et al. Among authors: foulquier f. Biochem J. 2019 Nov 15;476(21):3281-3293. doi: 10.1042/BCJ20190488. Biochem J. 2019. PMID: 31652305
SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.
Roy AS, Miskinyte S, Garat A, Hovnanian A, Krzewinski-Recchi MA, Foulquier F. Roy AS, et al. Among authors: foulquier f. Biochimie. 2020 Jul;174:159-170. doi: 10.1016/j.biochi.2020.04.017. Epub 2020 Apr 23. Biochimie. 2020. PMID: 32335229
Sialyltransferases functions in cancers.
Harduin-Lepers A, Krzewinski-Recchi MA, Colomb F, Foulquier F, Groux-Degroote S, Delannoy P. Harduin-Lepers A, et al. Among authors: foulquier f. Front Biosci (Elite Ed). 2012 Jan 1;4:499-515. doi: 10.2741/396. Front Biosci (Elite Ed). 2012. PMID: 22201891 Review.
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Haouari W, Dubail J, Lounis-Ouaras S, Prada P, Bennani R, Roseau C, Huber C, Afenjar A, Colin E, Vuillaumier-Barrot S, Seta N, Foulquier F, Poüs C, Cormier-Daire V, Bruneel A. Haouari W, et al. Among authors: foulquier f. J Inherit Metab Dis. 2020 Nov;43(6):1349-1359. doi: 10.1002/jimd.12291. Epub 2020 Aug 7. J Inherit Metab Dis. 2020. PMID: 32700771
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