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2017
Mendes, A., Sousa, L., Sequeiros, J., & Clarke, A. (2017). Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal. Social Science and Medicine, 182, 73 - 80.
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.
Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2017). Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases. Psychology, Health and Medicine, 22(2), 244 - 249.
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.
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.
Garcia, B. C. M., Germiniani, F. M. B., Marques, P., Sequeiros, J., & Teive, H. A. G. (2017). Paula coutinho’s outstanding contribution to the definition of Machado-Joseph disease. Arquivos de Neuro-Psiquiatria, 75(10), 748 - 750.
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.
Lêdo, S., Leite, Â., Souto, T., Dinis, M. A. P., & Sequeiros, J. (2017). Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact. Psicothema, 29(4), 446 - 452.
Matilla-Duenas, A., Corral-Juan, M., A. Seuma, R. - P., Vilas, D., et al. (2017). Rare neurodegenerative diseases: Clinical and genetic update. Advances in Experimental Medicine and Biology (Vol. 1031, pp. 443 - 496).
Leitea, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2017). Risk perception in subjects at-risk for Familial Amyloidotic Polyneuropathy. Universitas Psychologica, 16(3).
Gheno, T. C., Furtado, G. V., Saute, J. A. M., Donis, K. C., et al. (2017). Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil. European Journal of Neurology, 24(7), 892 - e36.
Alves-Ferreira, M., Coelho, T., Santos, D., Sequeiros, J., et al. (2017). A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal. Molecular Neurobiology.
Chen, Z., Wang, C., Zheng, C., Long, Z., et al. (2017). Ubiquitin-related network underlain by (CAG)nloci modulate age at onset in Machado-Joseph disease. Brain, 140(4), e25.
2016
Chen, Z., Zheng, C., Long, Z., Cao, L., et al. (2016). (CAG)nloci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. Brain, 139(8), e41.
Lêdo, S., Leite, Â., Souto, T., Dinis, M. A., & Sequeiros, J. (2016). Depression as the Middle-and Long-Term Impact for Pre-Symptomatic Testing of Late-Onset Neurodegenerative Disorders. Temas em Psicologia, 24(2), 579 - 594.
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.
M. Pereira, daConceiçã, Morais, S., Sequeiros, J., & Alonso, I. (2016). Large-scale functional RNAi Screen in C. elegans identifies TGF-β and notch signaling pathways as modifiers of CACNAIA. ASN Neuro, 8(2).
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. (2016). Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations. Journal of Genetic Counseling, 25(1), 79 - 89.
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.

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