creating a
healthier future
Isabel Silveira
Group leader
Isabel Silveira graduated in Pharmaceutical Sciences from the University of Porto, Portugal, in 1990. She then pursued her studies in Molecular and Cellular Biology at the University Paris V in France. In 1997 she obtained her PhD degree in human genetics specializing in disease gene mapping.Her current work focuses on finding genes implicated in neurodegenerative diseases towards development of genetic diagnosis and treatment for these pathologies.

Selected Publications

Loureiro J.R., Oliveira C.L., Mota C., Castro A.F., Costa C., Loureiro J.L., Coutinho P., Martins S., Sequeiros J., Silveira I.,
Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution. Human Mutation40(4):404-412, 2019. [Journal: Article] [CI: 15] [IF: 4,1]
DOI: 10.1002/humu.23704 SCOPUS: 85059677730.

Oliveira C.L., Veiga F., Varela C., Roleira F., Tavares E., Silveira I., Ribeiro A.J.,
Characterization of polymeric nanoparticles for intravenous delivery: Focus on stability. Colloids and Surfaces B: Biointerfaces150:326-333, 2017. [Journal: Article] [CI: 20] [IF: 4]
DOI: 10.1016/j.colsurfb.2016.10.046 SCOPUS: 85006136637.

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., Rouleau G.A., Rizzu P., Carracedo Á., Bessa J., Heutink P., Sequeiros J., Sobrido M.J., Coutinho P., Silveira I.,
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. American Journal of Human Genetics101(1):87-103, 2017. [Journal: Article] [CI: 92] [IF: 8,9]
DOI: 10.1016/j.ajhg.2017.06.007 SCOPUS: 85021415706.

Oliveira C., Silveira I., Veiga F., Ribeiro A.J.,
Recent advances in characterization of nonviral vectors for delivery of nucleic acids: Impact on their biological performance. Expert Opinion on Drug Delivery12(1):27-39, 2015. [Journal: Review] [CI: 23] [IF: 5,4]
DOI: 10.1517/17425247.2014.945421 SCOPUS: 84919451836.

Seixas A.I., Holmes S.E., Takeshima H., Pavlovich A., Sachs N., Pruitt J.L., Silveira I., Ross C.A., Margolis R.L., Rudnicki D.D.,
Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis. Annals of Neurology71(2):245-257, 2012. [Journal: Article] [CI: 66] [IF: 11,2]
DOI: 10.1002/ana.22598 SCOPUS: 84857520653.

García-Murias M., Quintáns B., Arias M., Seixas A.I., Cacheiro P., Tarrío R., Pardo J., Millán M.J., Arias-Rivas S., Blanco-Arias P., Dapena D., Moreira R., Rodríguez-Trelles F., Sequeiros J., Carracedo A., Silveira I., Sobrido M.J.,
'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization. Brain135(5):1423-1435, 2012. [Journal: Article] [CI: 76] [IF: 9,9]
DOI: 10.1093/brain/aws069 SCOPUS: 84860608331.

Almeida T., Alonso I., Martins S., Ramos E.M., Azevedo L., Ohno K., Amorim A., Saraiva-Pereira M.L., Jardim L.B., Matsuura T., Sequeiros J., Silveira I.,
Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS ONE4(2):, 2009. [Journal: Article] [CI: 39] [IF: 4,4]
DOI: 10.1371/journal.pone.0004553 SCOPUS: 84887212387.

Alonso I., Barros J., Tuna A., Coelho J., Sequeiros J., Silveira I., Coutinho P.,
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Archives of Neurology60(4):610-614, 2003. [Journal: Article] [CI: 78] [IF: 4,7]
DOI: 10.1001/archneur.60.4.610 SCOPUS: 0344406276.

Silveira I., Miranda C., Guimaraes L., Moreira M.C., Alonso I., Mendonça P., Ferro A., Pinto-Basto J., Coelho J., Ferreirinha F., Poirier J., Parreira E., Vale J., Januário C., Barbot C., Tuna A., Barros J., Koide R., Tsuji S., Holmes S.E., Margolis R.L., Jardim L., Pandolfo M., Coutinho P., Sequeiros J.,
Trinucleotide repeats in 202 families with ataxia: A small expanded (CAG)n allele at the SCA17 locus. Archives of Neurology59(4):623-629, 2002. [Journal: Article] [CI: 153] [IF: 4,3]
DOI: 10.1001/archneur.59.4.623 SCOPUS: 0036220140.

Silveira I., Alonso I., Guimarães L., Mendonça P., Santos C., Maciel P., Fidalgo de Matos J.M., Costa M., Barbot C., Tuna A., Barros J., Jardim L., Coutinho P., Sequeiros J.,
High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles. American Journal of Human Genetics66(3):830-840, 2000. [Journal: Article] [CI: 73] [IF: 10,4]
DOI: 10.1086/302827 SCOPUS: 0033925737.