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Author Title [ Type(Asc)] Year
Filters: Author is MacIel, P.  [Clear All Filters]
Journal Article
Bettencourt, C., Santos, C., Montiel, R., Kay, T., et al. (2010). The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): A comparison between DNA and mRNA in patients and controls. European Journal of Human Genetics, 18(5), 621 - 623.
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.
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.
Rodrigues, A. - J., Neves-Carvalho, A., Ferro, A., Rokka, A., et al. (2009). ATX-3, CDC-48 and UBXN-5: A new trimolecular complex in Caenorhabditis elegans. Biochemical and Biophysical Research Communications, 386(4), 575 - 581.
do Carmo Costa, M., Bajanca, F., Rodrigues, A. J., Tomé, R. J., et al. (2010). Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels. PloS one, 5(7).
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.
Rodrigues, A. J., Neves-Carvalho, A., Teixeira-Castro, A., Rokka, A., et al. (2011). Absence of ataxin-3 leads to enhanced stress response in c. elegans. PLoS ONE, 6(4).
Rodrigues, A. - J., do Carmo Costa, M., Silva, T. - L., Ferreira, D., et al. (2010). Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death. Biochimica et Biophysica Acta - Molecular Cell Research, 1803(10), 1154 - 1163.
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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