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Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ.
Kalasova, I., Hanzlikova, H., Gupta, N., Li, Y., Altmüller, J., Reynolds, J.J., Stewart, G.S., Wollnik, B., Yigit, G. and Caldecott, K.W.
Neurology Genetics 5 (2): e320. April 2019

The clinical outcome study for dysferlinopathy: an international multicenter study.
Harris, E., Bladen, C.L., Mayhew, A., James, M., Bettinson, K., Moore, U., Smith, F.E., Rufibach, L., Cnaan, A., Bharucha-Goebel, D.X., Blamire, A.M., Bravver, E., Carlier, P.G., Day, J.W., Díaz-Manera, J., Eagle, M., Grieben, U., Harms, M., Jones, K.J., Lochmüller, H., Mendell, J.R., Mori-Yoshimura, M., Paradas, C., Pegoraro, E., Pestronk, A., Salort-Campana, E., Schreiber-Katz, O., Semplicini, C., Spuler, S., Stojkovic, T., Straub, V., Takeda, S., Rocha, C.T., Walter, M.C. and Bushby, K.
Neurology Genetics 2 (4): e89. 4 August 2016