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2012
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.
Castro, J. P., Ott, C., Jung, T., Grune, T., & Almeida, H. (2012). Carbonylation of the cytoskeletal protein actin leads to aggregate formation. Free Radical Biology and Medicine, 53(4), 916 - 925.
Harley, C. A., Jesus, C. S. H., Carvalho, R., Brito, R. M. M., & Morais-Cabral, J. H. (2012). Changes in channel trafficking and protein stability caused by lqt2 mutations in the pas domain of the herg channel. PLoS ONE, 7(3).
Lee, J. - M., Gillis, T., Mysore, J. S., Ramos, E. M., et al. (2012). Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. American Journal of Human Genetics, 90(3), 434 - 444.
Braunlin, E., Rosenfeld, H., Kampmann, C., Johnson, J., et al. (2012). Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme ®) therapy. Journal of Inherited Metabolic Disease.
Siebert, M., Donis, K. C., Socal, M., Rieder, C. R. M., et al. (2012). Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3. Parkinsonism and Related Disorders, 18(2), 185 - 190.
Borges, M., Barreira-Silva, P., Flórido, M., Jordan, M. B., et al. (2012). Molecular and cellular mechanisms of Mycobacterium avium-induced thymic atrophy. Journal of Immunology, 189(7), 3600 - 3608.
Yao, C., Rath, U., Maiato, H., Sharp, D., et al. (2012). A nuclear-derived proteinaceous matrix embeds the microtubule spindle apparatus during mitosis. Molecular Biology of the Cell, 23(18), 3532 - 3541.
Yao, C., Rath, U., Maiato, H., Sharp, D., et al. (2012). A nuclear-derived proteinaceous matrix embeds the microtubule spindle apparatus during mitosis. Molecular Biology of the Cell, 23(18), 3532 - 3541.
Bettencourt, C., Raposo, M., Kazachkova, N., Santos, C., et al. (2012). Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum, 11(4), 1045 - 1050.
Lee, J. - H., Lee, J. - M., Ramos, E. M., Gillis, T., et al. (2012). TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochemical and Biophysical Research Communications, 424(3), 404 - 408.
Liz, M. A., Leite, S. C., Juliano, L., Saraiva, M. J., et al. (2012). Transthyretin is a metallopeptidase with an inducible active site. Biochemical Journal, 443(3), 769 - 778.
Jesus, C. S. H., Vaz, D. C., Saraiva, M. J. M., & Brito, R. M. M. (2012). The V30M amyloidogenic mutation decreases the rate of refolding kinetics of the tetrameric protein transthyretin. Spectroscopy (Netherlands), 27(5-6), 343 - 348.
Sequeiros, J., Paneque, M., Guimarães, B., Rantanen, E., et al. (2012). The wide variation of definitions of genetic testing in international recommendations, guidelines and reports. Journal of Community Genetics, 3(2), 113 - 124.
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.
Tejera, E., Jose Areias, M., Rodrigues, A., Rama, A., et al. (2011). Artificial neural network for normal, hypertensive, and preeclamptic pregnancy classification using maternal heart rate variability indexes. Journal of Maternal-Fetal and Neonatal Medicine, 24(9), 1147 - 1151.
Huntington, N. D., Alves, N. L., Legrand, N., Lim, A., et al. (2011). Autonomous and extrinsic regulation of thymopoiesis inhuman immune system (HIS) mice. European Journal of Immunology, 41(10), 2883 - 2893.
Lebreton, A., Lakisic, G., Job, V., Fritsch, L., et al. (2011). A bacterial protein targets the BAHD1 chromatin complex to stimulate type III interferon response. Science, 331(6022), 1319 - 1321.
Marques, A. E., Barbosa, A. T., Jotta, J., Coelho, M. C., et al. (2011). Biohydrogen production by Anabaena sp. PCC 7120 wild-type and mutants under different conditions: Light, nickel, propane, carbon dioxide and nitrogen. Biomass and Bioenergy, 35(10), 4426 - 4434.
Sonawane, A., Santos, J. C., Mishra, B. B., Jena, P., et al. (2011). Cathelicidin is involved in the intracellular killing of mycobacteria in macrophages. Cellular Microbiology, 13(10), 1601 - 1617.
Silvertown, J., Cook, L., Cameron, R., Dodd, M., et al. (2011). Citizen science reveals unexpected continental-scale evolutionary change in a model organism. PLoS ONE, 6(4).
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.
Henriques, A. F., Jenkins, R. E., Burton, N. F., & Cooper, R. A. (2011). The effect of manuka honey on the structure of Pseudomonas aeruginosa. European Journal of Clinical Microbiology and Infectious Diseases, 30(2), 167 - 171.
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.

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