A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia - Seixas, A.I.; Loureiro, J.R.; Costa, C.; Ordóñez-Ugalde, A.; Marcelino, H.; Oliveira, C.L.; Loureiro, J.L.; Dhingra, A.; Brandão, E.; Cruz, V.T.; Timóteo, A.; Quintáns, B.; et al. (American Journal of Human Genetics, 2017)

Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells - Neves-Carvalho, A.; Logarinho, E.; Freitas, A.; Duarte-Silva, S.; do Carmo Costa, M.; Silva-Fernandes, A.; Martins, M.; Serra, S.C.; Lopes, A.T.; Paulson, H.L.; Heutink, P.; Relvas, J.B.; et al. (Human Molecular Genetics, 2015)

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): A two-case report - Bettencourt, C.; Santos, C.; Coutinho, P.; Rizzu, P.; Vasconcelos, J.; Kay, T.; Cymbron, T.; Raposo, M.; Heutink, P.; Lima, M. (BMC Neurology, 2011)

Transthyretin: No association between serum levels or gene variants and schizophrenia - Ruano, D.; Macedo, A.; Soares, M.J.; Valente, J.; Azevedo, M.H.; Hutz, M.H.; Gama, C.S.; Lobato, M.I.; Belmonte-de-Abreu, P.; Goodman, A.B.; Pato, C.; Saraiva, M.J.; et al. (Journal of Psychiatric Research, 2007)