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Temudo, T., Rios, M., Prior, C., Carrilho, I., et al. (2009). Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment. Brain and Development, 31(1), 46 - 51.
Lemos, C., Castro, M. - J., Barros, J., Sequeiros, J., et al. (2009). Familial clustering of migraine: Further evidence from a portuguese study. Headache, 49(3), 404 - 411.
Castro, M. - J., Stam, A. H., Lemos, C., De Vries, B., et al. (2009). First mutation in the voltage-gated NaV1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. Cephalalgia, 29(3), 308 - 313.
Loureiro, J. L., Miller-Fleming, L., Thieleke-Matos, C., Magalhães, P., et al. (2009). Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. Acta Neurologica Scandinavica, 119(2), 113 - 118.
Sequeiros, J., Santos, C., & Jardim, L. B. (2009). Response to Tumas et al. Clinical Genetics, 75(2), 208.
Paneque, M., Lemos, C., Sousa, A., Velázquez, L., et al. (2009). Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: Experience with the disease, kinship and gender of the transmitting parent. Journal of Genetic Counseling, 18(5), 483 - 493.
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.
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.
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.
Javaher, P., Kääriäinen, H., Kristoffersson, U., Nippert, I., et al. (2008). EuroGentest: DNA-based testing for heritable disorders in Europe. Community Genetics, 11(2), 75 - 120.
Seneca, S., Morris, M. A., Patton, S., Elles, R., & Sequeiros, J. (2008). Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias. European Journal of Human Genetics, 16(8), 913 - 920.
Santos, C., Wanderley, H., Vedolin, L., Pena, S. D. J., et al. (2008). Huntington disease-like 2: The first patient with apparent European ancestry. Clinical Genetics, 73(5), 480 - 485.
Prestes, P. R., Saraiva-Pereira, M. L., Silveira, I., Sequeiros, J., & Jardim, L. B. (2008). Machado-Joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population. Annals of Human Genetics, 72(1), 57 - 64.
Alonso, I., Marques, J. M., Sousa, N., Sequeiros, J., et al. (2008). Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant. Neurobiology of Aging, 29(11), 1733 - 1743.
Temudo, T., Ramos, E., Dias, K., Barbot, C., et al. (2008). Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Movement Disorders, 23(10), 1384 - 1390.
Aymé, S., Matthijs, G., Anastasiadou, V., Atalar, F., et al. (2008). Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics. European Journal of Human Genetics, 16(SUPPL. 1), S3 - S9.
Rantanen, E., Hietala, M., Kristoffersson, U., Nippert, I., et al. (2008). Regulations and practices of genetic counselling in 38 European countries: The perspective of national representatives. European Journal of Human Genetics, 16(10), 1208 - 1216.
Castro, M. - J., Nunes, B., De Vries, B., Lemos, C., et al. (2008). Two novel functional mutations in the Na+, K+ -ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. Clinical Genetics, 73(1), 37 - 43.
Rantanen, E., Hietala, M., Kristoffersson, U., Nippert, I., et al. (2008). What is ideal genetic counselling? A survey of current international guidelines. European Journal of Human Genetics, 16(4), 445 - 452.
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.
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.
Rodrigues, A. - J., Coppola, G., Santos, C., Costa, M. D. C., et al. (2007). Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3. FASEB Journal, 21(4), 1126 - 1136.
Ferro, A., Carvalho, A. L., Teixeira-Castro, A., Almeida, C., et al. (2007). NEDD8: A new ataxin-3 interactor. Biochimica et Biophysica Acta - Molecular Cell Research, 1773(11), 1619 - 1627.
Paneque, M., Lemos, C., Escalona, K., Prieto, L., et al. (2007). Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba. Journal of Genetic Counseling, 16(4), 469 - 479.
Castro, M. - J., Stam, A. H., Lemos, C., Barros, J., et al. (2007). Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. Journal of Human Genetics, 52(12), 990 - 998.


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