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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.
Kumar, R.A. and Pilz, D.T. and Babatz, T.D. and Cushion, T.D. and Harvey, K. and Topf, Maya and Yates, L. and Robb, S. and Uyanik, G. and Mancini, G.M.S. and Rees, M.I. and Harvey, R.J. and Dobyns, W.B. (2010) TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human Molecular Genetics 19 (14), pp. 2817-2827. ISSN 0964-6906.
Harvey, R.J. and Topf, Maya and Harvey, K. and Rees, M.I. (2008) The genetics of hyperekplexia: more than startle! Trends in Genetics 24 (9), pp. 439-447. ISSN 0168-9525.
Harvey, K. and Duguid, I.C. and Alldred, M.J. and Beatty, S.E. and Ward, H. and Keep, Nicholas H. and Lingenfelter, S.E. and Pearce, B.R. and Lundgren, J.D. and Owens, Max J. and Smart, T.G. and Luscher, B. and Rees, M.I. and Harvey, R.J. (2004) The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. The Journal of Neuroscience 24 (25), pp. 5816-5826. ISSN 0270-6474.