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Author Title Type [ Year(Desc)]
Filters: Author is Sequeiros, J.  [Clear All Filters]
2010
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.
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.
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.
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.
Sequeiros, J., Seneca, S., & Martindale, J. (2010). Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. European Journal of Human Genetics, 18(11), 1188 - 1195.
Santos, P. I., Figueiredo, E., Gomes, I., & Sequeiros, J. (2010). Death anxiety and symbolic immortality in relatives at risk for familial amyloid polyneuropathy type I (FAP I, ATTR V30M). Journal of Genetic Counseling, 19(6), 585 - 592.
Lafrenière, R. G., Cader, M. Z., Poulin, J. - F., Andres-Enguix, I., et al. (2010). A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nature Medicine, 16(10), 1157 - 1160.
Sequeiros, J., Martindale, J., & Seneca, S. (2010). EMQN Best Practice Guidelines for molecular genetic testing of SCAs. European Journal of Human Genetics, 18(11), 1173 - 1176.
Lemos, C., Pereira-Monteiro, J., Mendonça, D., Ramos, E. M., et al. (2010). Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study. Archives of Neurology, 67(4), 422 - 427.
Javaher, P., Nyoungui, E., Kääriäinen, H., Kristoffersson, U., et al. (2010). Genetic screening in Europe. Public Health Genomics, 13(7-8), 524 - 537.
Melo, M. M., Carvalho, M., Lopes, V., Anjos, M. J., et al. (2010). Genetic study of 15 STRs loci of Identifiler system in Angola population. Forensic Science International: Genetics, 4(5), e153 - e157.
Sequeiros, J., Ramos, E. M., Cerqueira, J., Costa, M. C., et al. (2010). Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population. Clinical Genetics, 78(4), 381 - 387.
Prior, C., Nunes, A., Rios, M., Sequeiros, J., et al. (2010). Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention. Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención tempranaAnales de Pediatria, 72(3), 191 - 198.
2011
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.
Emmel, V. E., Alonso, I., Jardim, L. B., Saraiva-Pereira, M. L., & Sequeiros, J. (2011). Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?. Clinical Genetics, 79(1), 100 - 102.
Sequeiros, J., Martins, S., & Silveira, I. (2011). Epidemiology and population genetics of degenerative ataxias. Handbook of Clinical Neurology (Vol. 103, pp. 227 - 251).
Seixas, A. I., Vale, J., Jorge, P., Marques, I., et al. (2011). FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and Brain Functions, 7.
Becker, F., Van El, C. G., Ibarreta, D., Zika, E., et al. (2011). Genetic testing and common disorders in a public health framework: How to assess relevance and possibilities. European Journal of Human Genetics, 19(SUPPL. 1), S6 - S44.
Temudo, T., Santos, M., Ramos, E., Dias, K., et al. (2011). Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes. Brain and Development, 33(1), 69 - 76.
Lemos, C., Neto, J. L., Pereira-Monteiro, J., Mendonça, D., et al. (2011). A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients. European Journal of Neurology, 18(4), 649 - 655.
Melo, M. M., Carvalho, M., Lopes, V., Anjos, M. J., et al. (2011). Y-STR haplotypes in three ethnic linguistic groups of Angola population. Forensic Science International: Genetics, 5(3), e83 - e88.

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