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Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.
Pilorge M, Fassier C, Le Corronc H, Potey A, Bai J, De Gois S, Delaby E, Assouline B, Guinchat V, Devillard F, Delorme R, Nygren G, Råstam M, Meier JC, Otani S, Cheval H, James VM, Topf M, Dear TN, Gillberg C, Leboyer M, Giros B, Gautron S, Hazan J, Harvey RJ, Legendre P, Betancur C. Pilorge M, et al. Among authors: topf m. Mol Psychiatry. 2016 Jul;21(7):936-45. doi: 10.1038/mp.2015.139. Epub 2015 Sep 15. Mol Psychiatry. 2016. PMID: 26370147 Free PMC article.
The genetics of hyperekplexia: more than startle!
Harvey RJ, Topf M, Harvey K, Rees MI. Harvey RJ, et al. Among authors: topf m. Trends Genet. 2008 Sep;24(9):439-47. doi: 10.1016/j.tig.2008.06.005. Epub 2008 Aug 15. Trends Genet. 2008. PMID: 18707791 Review.
Distinct phenotypes in zebrafish models of human startle disease.
Ganser LR, Yan Q, James VM, Kozol R, Topf M, Harvey RJ, Dallman JE. Ganser LR, et al. Among authors: topf m. Neurobiol Dis. 2013 Dec;60:139-51. doi: 10.1016/j.nbd.2013.09.002. Epub 2013 Sep 9. Neurobiol Dis. 2013. PMID: 24029548 Free PMC article.
Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease.
Schaefer N, Berger A, van Brederode J, Zheng F, Zhang Y, Leacock S, Littau L, Jablonka S, Malhotra S, Topf M, Winter F, Davydova D, Lynch JW, Paige CJ, Alzheimer C, Harvey RJ, Villmann C. Schaefer N, et al. Among authors: topf m. J Neurosci. 2017 Aug 16;37(33):7948-7961. doi: 10.1523/JNEUROSCI.0009-17.2017. Epub 2017 Jul 19. J Neurosci. 2017. PMID: 28724750 Free PMC article.
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ. Carta E, et al. Among authors: topf m. J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14. J Biol Chem. 2012. PMID: 22700964 Free PMC article. Clinical Trial.
257 results