| 1 | SPART, SPG20 |
| A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism. | |
| Diquigiovanni C, Bergamini C, Diaz R, Liparulo I, Bianco F, Masin L, Baldassarro VA, Rizzardi N, Tranchina A, Buscherini F, Wischmeijer A, Pippucci T, Scarano E, Cordelli DM, Fato R, Seri M, Paracchini S, Bonora E. | |
| FASEB J 33(10):11284-11302. doi: 10.1096/fj.201802722R. Epub 2019 Aug 7. 2019 | |
| 2 | SPART, SPG20 |
| Novel SPG20 mutation in an extended family with Troyer syndrome. | |
| Bizzari S, Hamzeh AR, Nair P, Mohamed M, Saif F, Aithala G, Al-Ali MT, Bastaki F. | |
| Metab Brain Dis 32(6):2155-2159. doi: 10.1007/s11011-017-0104-3. Epub 2017 Sep 5. 2017 | |
| 3 | SPART, SPG20 |
| Recurrent null mutation in SPG20 leads to Troyer syndrome. | |
| Tawamie H, Wohlleber E, Uebe S, Schmäl C, Nöthen MM, Abou Jamra R. | |
| Mol Cell Probes 29(5):315-8. doi: 10.1016/j.mcp.2015.05.006. Epub 2015 May 20. 2015 | |