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2016
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.
Howes, A., Taubert, C., Blankley, S., Spink, N., et al. (2016). Differential production of Type I IFN Determines the Reciprocal Levels of IL-10 and proinflammatory cytokines produced by C57BL/6 and BALB/c macrophages. Journal of Immunology, 197(7), 2838 - 2853.
Martínez-Salamanca, J. I., Zurita, M., Costa, C., Martínez-Salamanca, E., et al. (2016). Dual Strategy With Oral Phosphodiesterase Type 5 Inhibition and Intracavernosal Implantation of Mesenchymal Stem Cells Is Superior to Individual Approaches in the Recovery of Erectile and Cavernosal Functions After Cavernous Nerve Injury in Rats. Journal of Sexual Medicine, 13(1), 1 - 11.
Porto, G., Brissot, P., Swinkels, D. W., Zoller, H., et al. (2016). EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). European Journal of Human Genetics, 24(4), 479 - 495.
Fais, S., O'Driscoll, L., Borras, F. E., Buzas, E., et al. (2016). Evidence-Based Clinical Use of Nanoscale Extracellular Vesicles in Nanomedicine. ACS Nano, 10(4), 3886 - 3899.
Fais, S., O'Driscoll, L., Borras, F. E., Buzas, E., et al. (2016). Evidence-Based Clinical Use of Nanoscale Extracellular Vesicles in Nanomedicine. ACS Nano, 10(4), 3886 - 3899.
Zin, W. W. M., Buttachon, S., Dethoup, T., Fernandes, C., et al. (2016). New cyclotetrapeptides and a new diketopiperzine derivative from the marine sponge-associated fungus Neosartorya glabra KUFA 0702. Marine Drugs, 14(7).
Butler, J. S., Chan, A., Costelha, S., Fishman, S., et al. (2016). Preclinical evaluation of RNAi as a treatment for transthyretin-mediated amyloidosis. Amyloid, 23(2), 109 - 118.
Buttachon, S., Zin, W. W. May, Dethoup, T., Gales, L., et al. (2016). Secondary Metabolites from the Culture of the Marine Sponge-Associated Fungi Talaromyces tratensis and Sporidesmium circinophorum. Planta Medica, 82(9-10), 888 - 896.
2015
Porto, G., Brissot, P., Swinkels, D. W., Zoller, H., et al. (2015). EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). European Journal of Human Genetics.
Zipor, G., Duarte, P., Carqueijeiro, I., Shahar, L., et al. (2015). In planta anthocyanin degradation by a vacuolar class III peroxidase in Brunfelsia calycina flowers. New Phytologist, 205(2), 653 - 665.
Barisic, M., Silva E Sousa, R., Tripathy, S. K., Magiera, M. M., et al. (2015). Microtubule detyrosination guides chromosomes during mitosis. Science, 348(6236), 799 - 803.
Zin, W. W. M., Buttachon, S., Buaruang, J., Gales, L., et al. (2015). A new meroditerpene and a new tryptoquivaline analog from the algicolous fungus Neosartorya takakii KUFC 7898. Marine Drugs, 13(6), 3776 - 3790.
2014
Rothaug, M., Zunke, F., Mazzulli, J. R., Schweizer, M., et al. (2014). LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance. Proceedings of the National Academy of Sciences of the United States of America, 111(43), 15573 - 15578.
Esteves, T., Durr, A., Mundwiller, E., Loureiro, J. L., et al. (2014). Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. American Journal of Human Genetics, 94(2), 268 - 277.
2013
Boukhris, A., Schule, R., Loureiro, J. L., Lourenço, C. M., et al. (2013). Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. American Journal of Human Genetics, 93(1), 118 - 123.
Silva, D. S., Pereira, L. M. G., Moreira, A. R., Ferreira-Da-Silva, F., et al. (2013). The Apoptogenic Toxin AIP56 Is a Metalloprotease A-B Toxin that Cleaves NF-κb P65. PLoS Pathogens, 9(2).
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.
Laforge, M., Limou, S., Harper, F., Casartelli, N., et al. (2013). DRAM Triggers Lysosomal Membrane Permeabilization and Cell Death in CD4+ T Cells Infected with HIV. PLoS Pathogens, 9(5).
Petrakis, I., Mavroeidi, V., Stylianou, K., Andronikidi, E., et al. (2013). Hsf-1 affects podocyte markers NPHS1, NPHS2 and WT1 in a transgenic mouse model of TTRVal30Met-related amyloidosis. Amyloid, 20(3), 164 - 172.
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.
Maia, A. R. R., Zhu, X., Miller, P., Gu, G., et al. (2013). Modulation of Golgi-associated microtubule nucleation throughout the cell cycle. Cytoskeleton, 70(1), 32 - 43.
Mota, R., Guimarães, R., Büttel, Z., Rossi, F., et al. (2013). Production and characterization of extracellular carbohydrate polymer from Cyanothece sp. CCY 0110. Carbohydrate Polymers, 92(2), 1408 - 1415.
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.
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.

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