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Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability.
Pravata VM, Muha V, Gundogdu M, Ferenbach AT, Kakade PS, Vandadi V, Wilmes AC, Borodkin VS, Joss S, Stavridis MP, van Aalten DMF. Pravata VM, et al. Among authors: stavridis mp. Proc Natl Acad Sci U S A. 2019 Jul 23;116(30):14961-14970. doi: 10.1073/pnas.1900065116. Epub 2019 Jul 11. Proc Natl Acad Sci U S A. 2019. PMID: 31296563 Free PMC article.
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.
Pravata VM, Omelková M, Stavridis MP, Desbiens CM, Stephen HM, Lefeber DJ, Gecz J, Gundogdu M, Õunap K, Joss S, Schwartz CE, Wells L, van Aalten DMF. Pravata VM, et al. Among authors: stavridis mp. Eur J Hum Genet. 2020 Jun;28(6):706-714. doi: 10.1038/s41431-020-0589-9. Epub 2020 Feb 20. Eur J Hum Genet. 2020. PMID: 32080367 Free PMC article. Review.
Essential alterations of heparan sulfate during the differentiation of embryonic stem cells to Sox1-enhanced green fluorescent protein-expressing neural progenitor cells.
Johnson CE, Crawford BE, Stavridis M, Ten Dam G, Wat AL, Rushton G, Ward CM, Wilson V, van Kuppevelt TH, Esko JD, Smith A, Gallagher JT, Merry CL. Johnson CE, et al. Among authors: stavridis m. Stem Cells. 2007 Aug;25(8):1913-23. doi: 10.1634/stemcells.2006-0445. Epub 2007 Apr 26. Stem Cells. 2007. PMID: 17464092
Screening for mammalian neural genes via fluorescence-activated cell sorter purification of neural precursors from Sox1-gfp knock-in mice.
Aubert J, Stavridis MP, Tweedie S, O'Reilly M, Vierlinger K, Li M, Ghazal P, Pratt T, Mason JO, Roy D, Smith A. Aubert J, et al. Among authors: stavridis mp. Proc Natl Acad Sci U S A. 2003 Sep 30;100 Suppl 1(Suppl 1):11836-41. doi: 10.1073/pnas.1734197100. Epub 2003 Aug 15. Proc Natl Acad Sci U S A. 2003. PMID: 12923295 Free PMC article.
19 results