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Author Title [ Type(Desc)] Year
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Journal Article
Almeida, T., Alonso, I., Martins, S., Ramos, E. M., et al. (2009). Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS ONE, 4(2).
Martins, S., Calafell, F., Gaspar, C., Wong, V. C. N., et al. (2007). Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology, 64(10), 1502 - 1508.
Vale, J., Bugalho, P., Silveira, I., Sequeiros, J., et al. (2010). Autosomal dominant cerebellar ataxia: Frequency analysis and clinical characterization of 45 families from Portugal. European Journal of Neurology, 17(1), 124 - 128.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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., 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.
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.
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.
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., 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.
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.
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.
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.
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.
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.
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.


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