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Author Title [ Type(Asc)] Year
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Journal Article
Ramos, E. M., Martins, S., Alonso, I., Emmel, V. E., et al. (2010). Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2). American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153(2), 524 - 531.
Martins, S., Coutinho, P., Silveira, I., Giunti, P., et al. (2008). Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(4), 439 - 446.
Ramos, E. M., Kovalenko, M., Guide, J. R., St. Claire, J., et al. (2015). Chromosome substitution strain assessment of a Huntington’s disease modifier locus. Mammalian Genome, 26(3-4), 119 - 130.
Melo, D. G., & Sequeiros, J. (2012). The challenges of incorporating genetic testing in the Unified National Health System in Brazil. Genetic Testing and Molecular Biomarkers, 16(7), 651 - 655.
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.
Ramos, E. M., Latourelle, J. C., Gillis, T., Mysore, J. S., et al. (2013). Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics, 14(3-4), 173 - 179.
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.
Lee, J. - M., Ramos, E. M., Lee, J. - H., Gillis, T., et al. (2012). CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology, 78(10), 690 - 695.
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.
Loureiro, J. L., Brandão, E., Ruano, L., Brandão, A. F., et al. (2013). Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey. JAMA Neurology, 70(4), 481 - 487.
Vale, J., Bugalho, P., Silveira, I., Sequeiros, J., et al. (2010). Autosomal dominant cerebellar ataxia: Frequency analysis and clinical characterization of 45 families from Portugal. European Journal of Neurology, 17(1), 124 - 128.
Temudo, T., Freitas, P., Sequeiros, J., MacIel, P., & Oliveira, G. (2008). Atypical stereotypies and vocal ties in rett syndrome: An illustrative case. Movement Disorders, 23(4), 622 - 623.
Anheim, M., Monga, B., Fleury, M., Charles, P., et al. (2009). Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain, 132(10), 2688 - 2698.
Saute, J. A. M., Donis, K. C., Serrano-Munuera, C., Genis, D., et al. (2012). Ataxia rating scales-psychometric profiles, natural history and their application in clinical trials. Cerebellum, 11(2), 488 - 504.
Spears, M. D., Melton, S., Mao, Q., Payne, D., et al. (2010). Ataxia and progressive encephalopathy in a 4-year-old girl. Laboratory Medicine, 41(1), 5 - 9.
Martins, S., Calafell, F., Gaspar, C., Wong, V. C. N., et al. (2007). Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology, 64(10), 1502 - 1508.
Bettencourt, C., Raposo, M., Kazachkova, N., Cymbron, T., et al. (2011). The APOE ε 2 allele increases the risk of earlier age at onset in Machado-Joseph disease. Archives of Neurology, 68(12), 1580 - 1583.
Almeida, T., Alonso, I., Martins, S., Ramos, E. M., et al. (2009). Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS ONE, 4(2).
Conceiço Pereira, M., Loureiro, J. L., Pinto-Basto, J., Brando, E., et al. (2012). Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations. Genetics in Medicine, 14(1), 143 - 151.
Temudo, T., MacIel, P., & Sequeiros, J. (2007). Abnormal movements in rett syndrome are present before the regression period: A case study. Movement Disorders, 22(15), 2284 - 2287.

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