Export 124 results:
Author Title Type [ Year(Asc)]
Filters: Author is Sequeiros, J.  [Clear All Filters]
2009
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.
2008
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.
2007
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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