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Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Samaco RC, et al. Among authors: thaller c. Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21966-71. doi: 10.1073/pnas.0912257106. Epub 2009 Dec 9. Proc Natl Acad Sci U S A. 2009. PMID: 20007372 Free PMC article.
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Lalani SR, et al. Among authors: thaller c. Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16400610 Free PMC article.
66 results