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H
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.
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.
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.
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.
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.
M
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.
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.
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.
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.
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.
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.
Temudo, T., Ramos, E., Dias, K., Barbot, C., et al. (2008). Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Movement Disorders, 23(10), 1384 - 1390.

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