Export 29 results:
Author Title [ Type(Asc)] Year
Filters: Author is Silveira, I.  [Clear All Filters]
Journal Article
Loureiro, J. R., Oliveira, C. L., & Silveira, I. (2016). Unstable repeat expansions in neurodegenerative diseases: Nucleocytoplasmic transport emerges on the scene. Neurobiology of Aging, 39, 174 - 183.
Trott, A., Jardim, L. B., Ludwig, H. T., Saute, J. A. M., et al. (2006). Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3]. Clinical Genetics, 70(2), 173 - 176.
Marques, J. M., Alonso, I., Santos, C., Silveira, I., & Olsson, I. A. S. (2009). The spatial learning phenotype of heterozygous leaner mice is robust to systematic variation of the housing environment. Comparative Medicine, 59(2), 129 - 138.
Alonso, I., Jardim, L. B., Artigalas, O., Saraiva-Pereira, M. L., et al. (2006). Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology, 66(10), 1602 - 1604.
Oliveira, C., Ribeiro, A. J., Veiga, F., & Silveira, I. (2016). Recent advances in nucleic acid-based delivery: From bench to clinical trials in genetic diseases. Journal of Biomedical Nanotechnology, 12(5), 841 - 862.
Oliveira, C., Silveira, I., Veiga, F., & Ribeiro, A. J. (2015). Recent advances in characterization of nonviral vectors for delivery of nucleic acids: Impact on their biological performance. Expert Opinion on Drug Delivery, 12(1), 27 - 39.
Seixas, A. I., Loureiro, J. R., Costa, C., Ordóñez-Ugalde, A., et al. (2017). A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. American Journal of Human Genetics, 101(1), 87 - 103.
Holmes, S. E., Wentzell, J. S., Seixas, A. I., Callahan, C., et al. (2006). A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array. Human Genetics, 120(2), 193 - 200.
Loureiro, J. L., Miller-Fleming, L., Thieleke-Matos, C., Magalhães, P., et al. (2009). Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. Acta Neurologica Scandinavica, 119(2), 113 - 118.
Alonso, I., Barros, J., Tuna, A., Seixas, A., et al. (2004). A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine [6]. Clinical Genetics, 65(1), 70 - 72.
Alonso, I., Costa, C., Gomes, A., Ferro, A., et al. (2005). A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14. Journal of Human Genetics, 50(10), 523 - 529.
Alonso, I., Marques, J. M., Sousa, N., Sequeiros, J., et al. (2008). Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant. Neurobiology of Aging, 29(11), 1733 - 1743.
Prestes, P. R., Saraiva-Pereira, M. L., Silveira, I., Sequeiros, J., & Jardim, L. B. (2008). Machado-Joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population. Annals of Human Genetics, 72(1), 57 - 64.
Seixas, A. I., Holmes, S. E., Takeshima, H., Pavlovich, A., et al. (2012). Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis. Annals of Neurology, 71(2), 245 - 257.
Martins, S., Seixas, A. I., Magalhães, P., Coutinho, P., et al. (2005). Haplotype diversity and somatic instability in normal and expanded SCA8 alleles. American Journal of Medical Genetics - Neuropsychiatric Genetics, 139 B(1), 109 - 114.
Seixas, A. I., Maurer, M. H., Lin, M., Callahan, C., et al. (2005). FXTAS, SCA10, and SCA17 in American patients with movement disorders [1]. American Journal of Medical Genetics, 136 A(1), 87 - 89.
Seixas, A. I., Vale, J., Jorge, P., Marques, I., et al. (2011). FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and Brain Functions, 7.
Cecchin, C. R., Pires, A. P., Rieder, C. R., Monte, T. L., et al. (2006). Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. Community Genetics, 10(1), 19 - 26.
García-Murias, M., Quintáns, B., Arias, M., Seixas, A. I., et al. (2012). 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization. Brain, 135(5), 1423 - 1435.
Ramos, E. M., Martins, S., Alonso, I., Emmel, V. E., et al. (2010). Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2). American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153(2), 524 - 531.
Martins, S., Coutinho, P., Silveira, I., Giunti, P., et al. (2008). Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(4), 439 - 446.
Oliveira, C. L., Veiga, F., Varela, C., Roleira, F., et al. (2017). Characterization of polymeric nanoparticles for intravenous delivery: Focus on stability. Colloids and Surfaces B: Biointerfaces, 150, 326 - 333.
Barros, J., Damásio, J., Tuna, A., Alves, I., et al. (2013). Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large portuguese family. JAMA Neurology, 70(2), 235 - 240.
Loureiro, J. L., Brandão, E., Ruano, L., Brandão, A. F., et al. (2013). Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey. JAMA Neurology, 70(4), 481 - 487.

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