2019

Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ.
Kalasova, I., Hanzlikova, H., Gupta, N., Li, Y., Altmüller, J. ORCID: https://orcid.org/0000-0003-4372-1521, Reynolds, J.J., Stewart, G.S., Wollnik, B., Yigit, G. and Caldecott, K.W.
Neurology Genetics 5 (2): e320. April 2019

2016

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. ORCID: https://orcid.org/0000-0002-6252-8738, 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. ORCID: https://orcid.org/0000-0002-0155-1117, Stojkovic, T., Straub, V., Takeda, S., Rocha, C.T., Walter, M.C. and Bushby, K.
Neurology Genetics 2 (4): e89. 4 August 2016