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April 2013
James, Victoria M. and Bode, A. and Chung, S.-K. and Gill, J.L. and Nielsen, M. and Cowan, Frances M. and Vujic, M. and Thomas, R.H. and Rees, M.I. and Harvey, K. and Keramidas, A. and Topf, Maya and Ginjaar, I. and Lynch, J.W. and Harvey, R.J. (2013) Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. Neurobiology of Disease 52 , pp. 137-149. ISSN 0969-9961.
16 August 2017
Schaefer, N. and Berger, A. and van Brederode, J. and Zheng, F. and Zhang, Y. and Leacock, S. and Littau, L. and Jablonka, S. and Malhotra, S. and Topf, Maya and Winter, F. and Davydova, D. and Lynch, J.W. and Paige, C.J. and Alzheimer, C. and Harvey, R.J. and Villmann, C. (2017) Disruption of a structurally important extracellular element in the Glycine Receptor leads to decreased synaptic integration and signaling resulting in Severe Startle Disease. The Journal of Neuroscience 37 (33), pp. 7948-7961. ISSN 0270-6474.