Export 124 results:
Author [ Title(Desc)] Type Year
Filters: Author is Sequeiros, J.  [Clear All Filters]
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 
A
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.
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.
Almeida, T., Alonso, I., Martins, S., Ramos, E. M., et al. (2009). Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS ONE, 4(2).
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.
Martins, S., Calafell, F., Gaspar, C., Wong, V. C. N., et al. (2007). Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology, 64(10), 1502 - 1508.
Spears, M. D., Melton, S., Mao, Q., Payne, D., et al. (2010). Ataxia and progressive encephalopathy in a 4-year-old girl. Laboratory Medicine, 41(1), 5 - 9.
Saute, J. A. M., Donis, K. C., Serrano-Munuera, C., Genis, D., et al. (2012). Ataxia rating scales-psychometric profiles, natural history and their application in clinical trials. Cerebellum, 11(2), 488 - 504.
Anheim, M., Monga, B., Fleury, M., Charles, P., et al. (2009). Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain, 132(10), 2688 - 2698.
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.
Vale, J., Bugalho, P., Silveira, I., Sequeiros, J., et al. (2010). Autosomal dominant cerebellar ataxia: Frequency analysis and clinical characterization of 45 families from Portugal. European Journal of Neurology, 17(1), 124 - 128.
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.
C
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.
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.
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.
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.
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.
Barros, J., Damásio, J., Tuna, A., Alves, I., et al. (2013). Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large portuguese family. JAMA Neurology, 70(2), 235 - 240.
Melo, D. G., & Sequeiros, J. (2012). The challenges of incorporating genetic testing in the Unified National Health System in Brazil. Genetic Testing and Molecular Biomarkers, 16(7), 651 - 655.
Ramos, E. M., Kovalenko, M., Guide, J. R., St. Claire, J., et al. (2015). Chromosome substitution strain assessment of a Huntington’s disease modifier locus. Mammalian Genome, 26(3-4), 119 - 130.
Martins, S., Coutinho, P., Silveira, I., Giunti, P., et al. (2008). Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(4), 439 - 446.
Ramos, E. M., Martins, S., Alonso, I., Emmel, V. E., et al. (2010). Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2). American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153(2), 524 - 531.
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.
Sequeiros, J., Seneca, S., & Martindale, J. (2010). Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. European Journal of Human Genetics, 18(11), 1188 - 1195.
Sequeiros, J. (2006). Corino Andrade (1906-2005): a clinical geneticist before its own time. Clinical genetics, 69(2), 194 - 196.

Pages


Home | Site Map | Contacts | Credits | Privacy & Cookies | Intranet | Social Networks |


rua alfredo allen, 208, 4200-135 porto - portugal | tel +351 220 408 800 | email: info@ibmc.up.pt | © copyright 2010 ibmc