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M
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.
Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2017). Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases. Interdisciplinaria, 34(1), 125 - 140.
Lêdo, S., Leite, Â., Souto, T., Dinis, M. A., & Sequeiros, J. (2016). Mid-and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy. Revista Brasileira de Psiquiatria, 38(2), 113 - 120.
Morais, S., Raymond, L., Mairey, M., Coutinho, P., et al. (2017). Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. European Journal of Human Genetics, 25(11), 1217 - 1228.
Ogun, S. A., Martins, S., Adebayo, P. B., Dawodu, C. O., et al. (2015). Machado-Joseph disease in a Nigerian family: Mutational origin and review of the literature. European Journal of Human Genetics, 23(2), 271 - 273.
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.
H
Santos, C., Wanderley, H., Vedolin, L., Pena, S. D. J., et al. (2008). Huntington disease-like 2: The first patient with apparent European ancestry. Clinical Genetics, 73(5), 480 - 485.
Castilhos, R., Souza, A., Furtado, G., Gheno, T., et al. (2013). Huntington disease and Huntington disease-like in a case series from Brazil. Clinical Genetics.
Mendes, A., Paneque, M., Sousa, L., Clarke, A., & Sequeiros, J. (2016). How communication of genetic information within the family is addressed in genetic counselling: A systematic review of research evidence. European Journal of Human Genetics, 24(3), 315 - 325.
Mendes,, Paneque, M., Sousa, L., Clarke, A., & Sequeiros, J. (2015). How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. European Journal of Human Genetics.
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.
Ramos, E. M., Gillis, T., Mysore, J. S., Lee, J. - M., et al. (2015). Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 168(2), 135 - 143.

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