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Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures.
Myrick LK, Deng PY, Hashimoto H, Oh YM, Cho Y, Poidevin MJ, Suhl JA, Visootsak J, Cavalli V, Jin P, Cheng X, Warren ST, Klyachko VA. Myrick LK, et al. Among authors: visootsak j. Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):949-56. doi: 10.1073/pnas.1423094112. Epub 2015 Jan 5. Proc Natl Acad Sci U S A. 2015. PMID: 25561520 Free PMC article.
Fragile X syndrome.
Garber KB, Visootsak J, Warren ST. Garber KB, et al. Among authors: visootsak j. Eur J Hum Genet. 2008 Jun;16(6):666-72. doi: 10.1038/ejhg.2008.61. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398441 Free PMC article. Review.
Improving Health Education for Women Who Carry an FMR1 Premutation.
Espinel W, Charen K, Huddleston L, Visootsak J, Sherman S. Espinel W, et al. Among authors: visootsak j. J Genet Couns. 2016 Apr;25(2):228-38. doi: 10.1007/s10897-015-9862-4. Epub 2015 Jul 16. J Genet Couns. 2016. PMID: 26174939 Free PMC article.
Fragile X syndrome: a review of associated medical problems.
Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, Visootsak J, Berry-Kravis E. Kidd SA, et al. Among authors: visootsak j. Pediatrics. 2014 Nov;134(5):995-1005. doi: 10.1542/peds.2013-4301. Epub 2014 Oct 6. Pediatrics. 2014. PMID: 25287458 Review.
Cognitive aspects of Fragile X syndrome.
Huddleston LB, Visootsak J, Sherman SL. Huddleston LB, et al. Among authors: visootsak j. Wiley Interdiscip Rev Cogn Sci. 2014 Jul;5(4):501-508. doi: 10.1002/wcs.1296. Epub 2014 May 29. Wiley Interdiscip Rev Cogn Sci. 2014. PMID: 25485036 Free PMC article.
51 results