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Author Title [ Type(Asc)] Year
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Journal Article
Gazulla, J., Benavente, I., López-Fraile, I. P., Tordesillas, C., et al. (2010). Sensory neuronopathy in ataxia with oculomotor apraxia type 2. Journal of the Neurological Sciences, 298(1-2), 118 - 120.
Perdu, B., De Freitas, F., Frints, S. G. M., Schouten, M., et al. (2010). Osteopathia striata with cranial sclerosis owing to WTX gene defect. Journal of Bone and Mineral Research, 25(1), 82 - 90.
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.
Ramos, E. M., Cerqueira, J., Lemos, C., Pinto-Basto, J., et al. (2012). Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions. Movement Disorders, 27(4), 583 - 585.
Santos, M., do Carmo Costa, M., Edite Rio, M., José Sá, M., et al. (2004). Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin. Multiple Sclerosis, 10(2), 153 - 157.
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.
Barbosa, M., Sousa, A., Medeira, A., Lourenço, T., et al. (2011). Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. Clinical Genetics, 80(6), 550 - 557.
Loureiro, J. L., Brandão, E., Ruano, L., Brandão, A. F., et al. (2013). Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey. JAMA Neurology, 70(4), 481 - 487.
Conceiço Pereira, M., Loureiro, J. L., Pinto-Basto, J., Brando, E., et al. (2012). Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations. Genetics in Medicine, 14(1), 143 - 151.

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