Isabel Silveira
Genetics of Cognitive Dysfunction
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: 19] [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: 23] [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: 105] [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: 24] [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: 68] [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: 82] [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: 41] [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: 155] [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., 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: 75] [IF: 10,4]
DOI: 10.1086/302827 SCOPUS: 0033925737
Mutational mechanism for DAB1 (ATTTC)
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: 23] [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: 105] [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: 24] [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: 68] [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: 82] [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: 41] [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)
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., 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: 75] [IF: 10,4]
DOI: 10.1086/302827 SCOPUS: 0033925737