Browse by Person

3 September 2015

Stödberg, T. and McTague, A. and Ruiz, A.J. and Hirata, H. and Zhen, J. and Long, P. and Farabella, Irene and Meyer, E. and Kawahara, A. and Vassallo, G. and Stivaros, S.M. and Bjursell, M.K. and Stranneheim, H. and Tigerschiöld, S. and Persson, B. and Bangash, I. and Das, K. and Hughes, D. and Lesko, N. and Lundeberg, J. and Scott, R.C. and Poduri, A. and Scheffer, I.E. and Smith, H. and Gissen, P. and Schorge, S. and Reith, M.E.A. and Topf, Maya and Kullmann, D.M. and Harvey, R.J. and Wedell, A. and Kurian, M.A. (2015) Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nature Communications 6 , p. 8038. ISSN 2041-1723.

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.