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Mitochondrial and ion channel gene alterations in autism.
Smith M, Flodman PL, Gargus JJ, Simon MT, Verrell K, Haas R, Reiner GE, Naviaux R, Osann K, Spence MA, Wallace DC. Smith M, et al. Biochim Biophys Acta. 2012 Oct;1817(10):1796-802. doi: 10.1016/j.bbabio.2012.04.004. Epub 2012 Apr 17. Biochim Biophys Acta. 2012. PMID: 22538295 Free PMC article. Clinical Trial.
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.
Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M. Ramanathan S, et al. Among authors: smith m. BMC Med Genet. 2004 Apr 16;5:10. doi: 10.1186/1471-2350-5-10. BMC Med Genet. 2004. PMID: 15090072 Free PMC article.
Attention deficit/hyperactivity disorder children with a 7-repeat allele of the dopamine receptor D4 gene have extreme behavior but normal performance on critical neuropsychological tests of attention.
Swanson J, Oosterlaan J, Murias M, Schuck S, Flodman P, Spence MA, Wasdell M, Ding Y, Chi HC, Smith M, Mann M, Carlson C, Kennedy JL, Sergeant JA, Leung P, Zhang YP, Sadeh A, Chen C, Whalen CK, Babb KA, Moyzis R, Posner MI. Swanson J, et al. Among authors: smith m. Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4754-9. doi: 10.1073/pnas.080070897. Proc Natl Acad Sci U S A. 2000. PMID: 10781080 Free PMC article.
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