| 1 | AOA4, PNKP |
| Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4. | |
| Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R. | |
| Am J Hum Genet 96(3):474-9. doi: 10.1016/j.ajhg.2015.01.005. Epub 2015 Feb 26. 2015 | |