Export 9 results:
Author Title [ Type(Desc)] Year
Filters: Author is Pinto-Basto, J.  [Clear All Filters]
Journal Article
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.
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.
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.
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.
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.
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.
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.
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.
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.

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