| 1 | DAB1, SCA37 |
| A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. | |
| Seixas AI, Loureiro JR, Costa C, Ordóñez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandão E, Cruz VT, Timóteo A, Quintáns B, Rouleau GA, Rizzu P, Carracedo Á, Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I. | |
| Am J Hum Genet 101(1):87-103. doi: 10.1016/j.ajhg.2017.06.007. 2017 | |
| 2 | SCA37 |
| New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. | |
| Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, Roig C, Corral J, Campos B, de Jorge L, Morcillo-Suárez C, Navarro A, Forlani S, Durr A, Kulisevsky J, Brice A, Sánchez I, Volpini V, Matilla-Dueñas A. | |
| JAMA Neurol 70(6):764-71. doi: 10.1001/jamaneurol.2013.2311. 2013 | |