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Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
James VM, Bode A, Chung SK, Gill JL, Nielsen M, Cowan FM, Vujic M, Thomas RH, Rees MI, Harvey K, Keramidas A, Topf M, Ginjaar I, Lynch JW, Harvey RJ. James VM, et al. Among authors: lynch jw. Neurobiol Dis. 2013 Apr;52:137-49. doi: 10.1016/j.nbd.2012.12.001. Epub 2012 Dec 10. Neurobiol Dis. 2013. PMID: 23238346 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: lynch jw. 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.
347 results