Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4 - Bras, J.; Alonso, I.; Barbot, C.; Costa, M.M.; Darwent, L.; Orme, T.; Sequeiros, J.; Hardy, J.; Coutinho, P.; Guerreiro, R. (American Journal of Human Genetics, 2015)