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Journal Article
Harmatz, P., Giugliani, R., D. Schwartz, I. V., Guffon, N., et al. (2008). Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Molecular Genetics and Metabolism, 94(4), 469 - 475.
Martin, E., Schüle, R., Smets, K., Rastetter, A., et al. (2013). Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. American Journal of Human Genetics, 92(2), 238 - 244.
Ferraz, M. J., Marques, A. R. A., Gaspar, P., Mirzaian, M., et al. (2016). Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders. Molecular Genetics and Metabolism, 117(2), 186 - 193.
Hoischen, A., Gilissen, C., Arts, P., Wieskamp, N., et al. (2010). Massively parallel sequencing of ataxia genes after array-based enrichment. Human Mutation, 31(4), 492 - 499.
Weber, E. M., & Olsson, I. A. S. (2008). Maternal behaviour in Mus musculus sp.: An ethological review. Applied Animal Behaviour Science, 114(1-2), 1 - 22.
Mayr, C., Bund, D., Schlee, M., Bamberger, M., et al. (2006). MDM2 is recognized as a tumor-associated antigen in chronic lymphocytic leukemia by CD8+ autologous T lymphocytes. Experimental Hematology, 34(1), 44 - 53.
Williams, G. S., Collinson, L. M., Brzostek, J., Eissmann, P., et al. (2007). Membranous ctructures transfer cell surface proteins across NK cell immune synapses. Traffic, 8(9), 1190 - 1204.
Rodrigues, L. G., Tavares, M. A., Wood, J. P. M., Schmidt, K. - G., & Osborne, N. N. (2004). Methamphetamine exacerbates the toxic effect of kainic acid in the adult rat retina. Neurochemistry International, 45(8), 1133 - 1141.
Borsari, C., Santarém, N., Torrado, J., Olías, A. I., et al. (2017). Methoxylated 2'-hydroxychalcones as antiparasitic hit compounds. European Journal of Medicinal Chemistry, 126, 1129 - 1135.
Borsari, C., Santarém, N., Torrado, J., Olías, A. I., et al. (2017). Methoxylated 2'-hydroxychalcones as antiparasitic hit compounds. European Journal of Medicinal Chemistry, 126, 1129 - 1135.
Coelho-Santos, V., Socodato, R., Portugal, C., Leitão, R. A., et al. (2016). Methylphenidate-triggered ROS generation promotes caveolae-mediated transcytosis via Rac1 signaling and c-Src-dependent caveolin-1 phosphorylation in human brain endothelial cells. Cellular and Molecular Life Sciences, 73(24), 4701 - 4716.
Kolb, A. F., Huber, R. C., Lillico, S. G., Carlisle, A., et al. (2011). Milk lacking α-casein leads to permanent reduction in body size in mice. PLoS ONE, 6(7).
Williams, B., Leung, G., Maiato, H., Wong, A., et al. (2007). Mitch - A rapidly evolving component of the Ndc80 kinetochore complex required for correct chromosome segregation in Drosophila. Journal of Cell Science, 120(20), 3522 - 3533.
Williams, B., Leung, G., Maiato, H., Wong, A., et al. (2007). Mitch - A rapidly evolving component of the Ndc80 kinetochore complex required for correct chromosome segregation in Drosophila. Journal of Cell Science, 120(20), 3522 - 3533.
Williams, B., Leung, G., Maiato, H., Wong, A., et al. (2007). Mitch - A rapidly evolving component of the Ndc80 kinetochore complex required for correct chromosome segregation in Drosophila. Journal of Cell Science, 120(20), 3522 - 3533.
Neves, J. V., Caldas, C., Wilson, J. M., & Rodrigues, P. N. S. (2011). Molecular mechanisms of hepcidin regulation in sea bass (Dicentrarchus labrax). Fish and Shellfish Immunology, 31(6), 1154 - 1161.
Olsson, I. A. S., & Westlund, K. (2007). More than numbers matter: The effect of social factors on behaviour and welfare of laboratory rodents and non-human primates. Applied Animal Behaviour Science, 103(3-4), 229 - 254.
Martins, S., Calafell, F., Wong, V. C. N., Sequeiros, J., & Amorim, A. (2006). A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. European Journal of Human Genetics, 14(8), 932 - 940.
Karageorgos, L., Brooks, D. A., Pollard, A., Melville, E. L., et al. (2007). Mutational analysis of 105 mucopolysaccharidosis type VI patients. Human Mutation, 28(9), 897 - 903.
Martin, C. - A., Murray, J. E., Carroll, P., Leitch, A., et al. (2016). Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes and Development, 30(19), 2158 - 2172.
Martin, C. - A., Murray, J. E., Carroll, P., Leitch, A., et al. (2016). Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes and Development, 30(19), 2158 - 2172.
Neves, J. V., Wilson, J. M., Kuhl, H., Reinhardt, R., et al. (2011). Natural history of SLC11 genes in vertebrates: Tales from the fish world. BMC Evolutionary Biology, 11(1).
Cruz, E., Whittington, C., Krikler, S. H., Mascarenhas, C., et al. (2008). A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis. BMC medical genetics, 9, 97.
Stevanin, G., Paternotte, C., Coutinho, P., Klebe, S., et al. (2007). A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology, 68(21), 1837 - 1840.
Laforge, M., Rodrigues, V., Silvestre, R., Gautier, C., et al. (2016). NF-κB pathway controls mitochondrial dynamics. Cell Death and Differentiation, 23(1), 89 - 98.

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