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Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.
Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, Hayashi T, Suzuki E, Jiang Y, Zhang L, Rodriguez J, Boyle J, Tarpey P, Raymond FL, Nevelsteen J, Froyen G, Stratton M, Futreal A, Gecz J, Stevenson R, Schwartz CE, Valle D, Huganir RL, Wang T. Wu Y, et al. Among authors: stevenson r. Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18163-8. doi: 10.1073/pnas.0708699104. Epub 2007 Nov 7. Proc Natl Acad Sci U S A. 2007. PMID: 17989220 Free PMC article.
MRX8: an X-linked mental retardation condition with linkage to Xq21.
Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DF, Lubs HA, Arena F, Stevenson RE. Schwartz CE, et al. Among authors: stevenson re. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):467-74. doi: 10.1002/ajmg.1320430170. Am J Med Genet. 1992. PMID: 1605227
Allan-Herndon syndrome. I. Clinical studies.
Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr, Herndon CN. Stevenson RE, et al. Am J Hum Genet. 1990 Sep;47(3):446-53. Am J Hum Genet. 1990. PMID: 2393019 Free PMC article.
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.
Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. Schwartz CE, et al. Among authors: stevenson re. Am J Hum Genet. 1990 Sep;47(3):454-8. Am J Hum Genet. 1990. PMID: 2393020 Free PMC article.
1,593 results