| 1 | PARK20, SYNJ1 |
| The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. | |
| Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C. | |
| Hum Mutat 34(9):1200-7. doi: 10.1002/humu.22372. Epub 2013 Jul 19. 2013 | |
| 2 | PARK20, SYNJ1 |
| Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. | |
| Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatŕ S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER; International Parkinsonism Genetics Network, Oostra BA, Barone P, Wang J, Bonifati V. | |
| Hum Mutat 34(9):1208-15. doi: 10.1002/humu.22373. Epub 2013 Aug 6. 2013 | |