| Data | Título | Autor(es) | Tipo | Acesso |
| Nov-2007 | Abnormal movements in Rett syndrome are present before the regression period: a case study | Temudo, Teresa; Maciel, P.; Sequeiros, Jorge | Artigo | Acesso restrito UMinho |
| 15-Mar-2008 | Atypical stereotypies and vocal tics in Rett syndrome: an illustrative case | Temudo, Teresa; Freitas, Paula; Sequeiros, Jorge, et al. | Carta ao editor | Acesso restrito UMinho |
| 2006 | The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation | Costa, Maria do Carmo; Magalhães, Paula; Guimarães, Laura, et al. | Artigo | Acesso aberto |
| Ago-2006 | Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype | Costa, Maria do Carmo; Teixeira-Castro, Andreia; Constante, Marco, et al. | Artigo | Acesso aberto |
| Abr-2007 | Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3 | Rodrigues, Ana João; Coppola, Giovanni; Santos, Cláudia, et al. | Artigo | Acesso restrito UMinho |
| Jul-2003 | Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients | Alizadeh, Mehdi; Babron, Marie-Claude; Birebent, Brigitte, et al. | Artigo | Acesso restrito UMinho |
| 2004 | Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado–Joseph disease (MJD) gene | Costa, Maria do Carmo; Silva, Joana Gomes da; Miranda, Carlos J., et al. | Artigo | Acesso aberto |
| 2004 | Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin | Santos, Mónica; Costa, Maria do Carmo; Rio, Maria Edite, et al. | Artigo | Acesso aberto |
| Nov-2003 | Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice | Costa, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima, et al. | Artigo | Acesso aberto |
| Nov-2008 | Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant | Alonso, Isabel; Marques, Joana M.; Sousa, Nuno, et al. | Artigo | Acesso aberto |
| Nov-2007 | NEDD8: a new ataxin-3 interactor | Ferro, Anabela; Carvalho, Ana Luísa; Castro, Andreia Cristiana Teixeira, et al. | Artigo | Acesso aberto |
| Ago-2005 | Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement | Maciel, P.; Cruz, V. T.; Constante, M., et al. | Artigo | Acesso aberto |
| 2005 | Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea | Costa, Maria do Carmo; Costa, Cristina; Silva, Ana Paula, et al. | Artigo | Acesso aberto |
| 2005 | Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal | Lima, M.; Costa, Maria do Carmo; Montiel, R., et al. | Artigo | Acesso aberto |
| Jan-2011 | Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes | Temudo, Teresa; Santos, Mónica; Ramos, Elisabete, et al. | Artigo | Acesso aberto |
| Mar-2012 | Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (ATXN3) | Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya, et al. | Artigo | Acesso aberto |
| Dez-2011 | The APOE ε2 allele increases the risk of Earlier Age at onset in Machado-Joseph disease | Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya, et al. | Artigo | Acesso aberto |
| 2008 | The C677T polymorphism in MTHFR is not associated with migraine in Portugal | Ferro, Anabela; Castro, Maria-José; Lemos, Carolina, et al. | Artigo | Acesso aberto |
| 2003 | A whole genome screen for association with multiple sclerosis in portuguese patients | Santos, M.; Pinto-Basto, J.; Rio, M. E., et al. | Artigo | Acesso aberto |
