| 1 | PRLTS5, TWNK |
| Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. | |
| Ołdak M, Oziębło D, Pollak A, Stępniak I, Lazniewski M, Lechowicz U, Kochanek K, Furmanek M, Tacikowska G, Plewczynski D, Wolak T, Płoski R, Skarżyński H. | |
| J Transl Med 15(1):25. doi: 10.1186/s12967-017-1129-4. 2017 | |
| 2 | PRLTS5, TWNK |
| Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. | |
| Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H. | |
| Neurology 83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29. 2014 | |