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Journal Article
Bouissou, A., Vérollet, C., Sousa, A., Sampaio, P., et al. (2009). γ-Tubulin ring complexes regulate microtubule plus end dynamics. Journal of Cell Biology, 187(3), 327 - 334.
Santos, D., Coelho, T., Alves-Ferreira, M., Sequeiros, J., et al. (2016). Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). European Journal of Human Genetics, 24(5), 756 - 760.
Do Amaral, B., Coelho, T., Sousa, A., & Guimarães, A. (2009). Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type. Amyloid, 16(4), 232 - 238.
Soares, M. L., Coelho, T., Sousa, A., Batalov, S., et al. (2005). Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: Complexity in a single-gene disease. Human Molecular Genetics, 14(4), 543 - 553.
Paneque, M., Lemos, C., Sousa, A., Velázquez, L., et al. (2009). Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: Experience with the disease, kinship and gender of the transmitting parent. Journal of Genetic Counseling, 18(5), 483 - 493.
Lemos, C., Neto, J. L., Pereira-Monteiro, J., Mendonça, D., et al. (2011). A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients. European Journal of Neurology, 18(4), 649 - 655.
Paneque, M., Lemos, C., Escalona, K., Prieto, L., et al. (2007). Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba. Journal of Genetic Counseling, 16(4), 469 - 479.
Lima, M., Costa, M. C., Montiel, R., Ferro, A., et al. (2005). Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal. Human Heredity, 60(3), 156 - 163.
Sequeiros, J., Ramos, E. M., Cerqueira, J., Costa, M. C., et al. (2010). Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population. Clinical Genetics, 78(4), 381 - 387.
Quintas, M., Neto, J. L., Pereira-Monteiro, J., Barros, J., et al. (2013). Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility. PLoS ONE, 8(9).
Soares, M. L., Coelho, T., Sousa, A., Holmgren, G., et al. (2004). Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: Genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. European Journal of Human Genetics, 12(3), 225 - 237.
Lemos, C., Castro, M. - J., Barros, J., Sequeiros, J., et al. (2009). Familial clustering of migraine: Further evidence from a portuguese study. Headache, 49(3), 404 - 411.
Santos, D., Coelho, T., Alves-Ferreira, M., Sequeiros, J., et al. (2017). Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset. Annals of Clinical and Translational Neurology, 4(2), 98 - 105.
Pinho, T., MacIel, P., Lemos, C., & Sousa, A. (2010). Familial aggregation of maxillary lateral incisor agenesis. Journal of Dental Research, 89(6), 621 - 625.
Lemos, C., Pereira-Monteiro, J., Mendonça, D., Ramos, E. M., et al. (2010). Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study. Archives of Neurology, 67(4), 422 - 427.
Lobato, L., Beirão, I., Silva, M., Fonseca, I., et al. (2004). End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: Presentation, survival and prognostic factors. Amyloid, 11(1), 27 - 37.
Sousa, A., Reis, R., Sampaio, P., & Sunkel, C. E. (2007). The Drosophila CLASP homologue, mast/orbit regulates the dynamic behaviour of interphase microtubules by promoting the pause state. Cell Motility and the Cytoskeleton, 64(8), 605 - 620.
Barbosa, M., Sousa, A., Medeira, A., Lourenço, T., et al. (2011). Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. Clinical Genetics, 80(6), 550 - 557.
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.
Costa, M. D. C., Magalhães, P., Guimarães, L., MacIel, P., et al. (2006). The CAG repeat at the Huntington disease gene in the Portuguese population: Insights into its dynamics and to the origin of the mutation. Journal of Human Genetics, 51(3), 189 - 195.
Ferro, A., Castro, M. - J., Lemos, C., Santos, M., et al. (2008). The C677T polymorphism in MTHFR is not associated with migraine in Portugal. Disease Markers, 25(2), 107 - 113.
Lemos, C., Mendonça, D., Pereira-Monteiro, J., Barros, J., et al. (2010). BDNF and CGRP interaction: Implications in migraine susceptibility. Cephalalgia, 30(11), 1375 - 1382.

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