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Showing results 1 to 19 of 19.
Issue DateTitleAuthor(s)TypeAccess
Nov-2007Abnormal movements in Rett syndrome are present before the regression period: a case studyTemudo, Teresa; Maciel, P.; Sequeiros, JorgeArticleRestricted access (UMinho)
15-Mar-2008Atypical stereotypies and vocal tics in Rett syndrome: an illustrative caseTemudo, Teresa; Freitas, Paula; Sequeiros, Jorge, et al.Letter to the editorRestricted access (UMinho)
2006The CAG repeat at the Huntington disease gene in the Portuguese population : insights into its dynamics and to the origin of the mutationCosta, Maria do Carmo; Magalhães, Paula; Guimarães, Laura, et al.ArticleOpen access
Aug-2006Exclusion 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 phenotypeCosta, Maria do Carmo; Teixeira-Castro, Andreia; Constante, Marco, et al.ArticleOpen access
Apr-2007Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3Rodrigues, Ana João; Coppola, Giovanni; Santos, Cláudia, et al.ArticleRestricted access (UMinho)
Jul-2003Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patientsAlizadeh, Mehdi; Babron, Marie-Claude; Birebent, Brigitte, et al.ArticleRestricted access (UMinho)
2004Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado–Joseph disease (MJD) geneCosta, Maria do Carmo; Silva, Joana Gomes da; Miranda, Carlos J., et al.ArticleOpen access
2004Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese originSantos, Mónica; Costa, Maria do Carmo; Rio, Maria Edite, et al.ArticleOpen access
Nov-2003Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practiceCosta, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima, et al.ArticleOpen access
Nov-2008Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutantAlonso, Isabel; Marques, Joana M.; Sousa, Nuno, et al.ArticleOpen access
Nov-2007NEDD8: a new ataxin-3 interactorFerro, Anabela; Carvalho, Ana Luísa; Castro, Andreia Cristiana Teixeira, et al.ArticleOpen access
Aug-2005Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvementMaciel, P.; Cruz, V. T.; Constante, M., et al.ArticleOpen access
2005Nonsense mutation in TITF1 in a Portuguese family with benign hereditary choreaCosta, Maria do Carmo; Costa, Cristina; Silva, Ana Paula, et al.ArticleOpen access
2005Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in PortugalLima, M.; Costa, Maria do Carmo; Montiel, R., et al.ArticleOpen access
Jan-2011Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypesTemudo, Teresa; Santos, Mónica; Ramos, Elisabete, et al.ArticleOpen access
Mar-2012Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (ATXN3)Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya, et al.ArticleOpen access
Dec-2011The APOE ε2 allele increases the risk of Earlier Age at onset in Machado-Joseph diseaseBettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya, et al.ArticleOpen access
2008The C677T polymorphism in MTHFR is not associated with migraine in PortugalFerro, Anabela; Castro, Maria-José; Lemos, Carolina, et al.ArticleOpen access
2003A whole genome screen for association with multiple sclerosis in portuguese patientsSantos, M.; Pinto-Basto, J.; Rio, M. E., et al.ArticleOpen access