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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.
Sequeiros, J. (2006). Corino Andrade (1906-2005): a clinical geneticist before its own time. Clinical genetics, 69(2), 194 - 196.
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.
Costa, M. D. C., Teixeira-Castro, A., Constante, M., Magalhães, M., et al. (2006). Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. Journal of Human Genetics, 51(8), 645 - 651.
Soini, S., Ibarreta, D., Anastasiadou, V., Aymé, Sé, et al. (2006). The interface between assisted reproductive technologies and genetics: Technical, social, ethical and legal issues. European Journal of Human Genetics, 14(5), 588 - 645.
Martins, S., Calafell, F., Wong, V. C. N., Sequeiros, J., & Amorim, A. (2006). A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. European Journal of Human Genetics, 14(8), 932 - 940.
Rolim, L., Zagalo-Cardoso, J. A., Paúl, C., Sequeiros, J., & Fleming, M. (2006). The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: Development of a new self-response inventory. Journal of Genetic Counseling, 15(5), 375 - 391.
Rolim, L., Leite, Â., Lêdo, S., Paneque, M., et al. (2006). Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. Clinical Genetics, 69(4), 297 - 305.
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.
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.
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.
Miranda, C. J., Santos, M. M., Ohshima, K., Tessaro, M., et al. (2004). Frataxin overexpressing mice. FEBS Letters, 572(1-3), 281 - 288.
do Carmo Costa, M., Gomes-da-Silva, J., Miranda, C. J., Sequeiros, J., et al. (2004). Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene. Genomics, 84(2), 361 - 373.
Santos, M., do Carmo Costa, M., Edite Rio, M., José Sá, M., et al. (2004). Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin. Multiple Sclerosis, 10(2), 153 - 157.
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.
Fleming, M., Lêdo, S., Rocha, J. C., & Sequeiros, J. (2004). Pshycho-social impact of presymptomatic testing in Machado-Joseph disease. Impacto psicológico do teste pré-sintomático na doença de Machado-Joseph. Resultados preliminaresArquivos de Medicina, 18(1-2), 72 - 75+92.
Moreira, M. - C., Klur, S., Watanabe, M., Németh, A. H., et al. (2004). Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature Genetics, 36(3), 225 - 227.


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