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19 December 2016
Meyer, E. and Carss, K.J and Rankin, J. and Nichols, J.M.E and Grozeva, D. and Joseph, A.P and Mencacci, N.E. and Papandreou, A. and Ng, J. and Barral, S. and Ngoh, A. and Ben-Pazi, H. and Willemsen, M.A. and Arkadir, D. and Barnicoat, A. and Bergman, H. and Bhate, S. and Boys, A. and Darin, N. and Foulds, N. and Gutowski, N. and Hills, A. and Houlden, H. and Hurst, J.A. and Israel, Z. and Kaminska, M. and Limousin, P. and Lumsden, D. and McKee, S. and Misra, S. and Mohammed, S.S. and Nakou, V. and Nicolai, J. and Nilsson, M. and Pall, H. and Peall, K.J. and Peters, G.B. and Prabhakar, P. and Reuter, M.S. and Rump, P. and Segel, R. and Sinnema, M. and Smith, M. and Turnpenny, P. and White, S.M. and Wieczorek, D. and Wiethoff, S. and Wilson, B.T. and Winter, G. and Wragg, C. and Pope, S. and Heales, S.J.H. and Morrogh, D. and Pittman, A. and Carr, L. J. and Perez-Dueñas, B. and Lin, J.-P. and Reis, A. and Gahl, W.A. and Toro, C. and Bhatia, K.P. and Wood, N.W. and Kamsteeg, E.-J. and Chong, W.K. and Gissen, P. and Topf, Maya and Dale, R.C. and Chubb, J.R. and Raymond, F.L. and Kurian, M.A. (2016) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics 49 , pp. 223-237. ISSN 1061-4036.
1 December 2017
McTague, A. and Nair, U. and Malhotra, S. and Meyer, E. and Trump, N. and Gazina, E.V. and Papandreou, A. and Ngoh, A. and Ackermann, S. and Ambegaonkar, G. and Appleton, R. and Desurkar, A. and Eltze, C. and Kneen, R. and Kumar, A.V. and Lascelles, K. and Montgomery, T. and Ramesh, V. and Samanta, R. and Scott, R.H. and Tan, J. and Whitehouse, W. and Poduri, A. and Scheffer, I.E. and Chong, W.K. "Kling" and Cross, H.K. and Topf, Maya and Petrou, S. and Kurian, M.A. (2017) Clinical and molecular characterisation of KCNT1-related severe early onset epilepsy. Neurology 90 (1), ISSN 0028-3878.
2 January 2018
McTague, A. and Nair, U. and Malhotra, S. and Meyer, E. and Trump, N. and Gazina, E.V. and Papandreou, A. and Ngoh, A. and Ackermann, S. and Ambegaonkar, G. and Appleton, R. and Desurkar, A. and Eltze, C. and Kneen, R. and Kumar, A.V. and Lascelles, K. and Montgomery, T. and Ramesh, V. and Samanta, R. and Scott, R.H. and Tan, J. and Whitehouse, W. and Poduri, A. and Scheffer, I.E. and Chong, W.K. and Cross, J.H. and Topf, Maya and Petrou, S. and Kurian, M.A. (2018) Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy. Neurology 90 (1), ISSN 0028-3878.