Export 124 results:
Author [ Title(Asc)] 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 
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.
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.
Miranda, C. J., Santos, M. M., Ohshima, K., Tessaro, M., et al. (2004). Frataxin overexpressing mice. FEBS Letters, 572(1-3), 281 - 288.
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.
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.
Santos, D., Coelho, T., Alves-Ferreira, M., Sequeiros, J., et al. (2017). Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset. Annals of Clinical and Translational Neurology, 4(2), 98 - 105.
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.
Costa, M. D. C., Teixeira-Castro, A., Constante, M., Magalhães, M., et al. (2006). Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. Journal of Human Genetics, 51(8), 645 - 651.
Lemos, C., Pereira-Monteiro, J., Mendonça, D., Ramos, E. M., et al. (2010). Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study. Archives of Neurology, 67(4), 422 - 427.
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.
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.
Sequeiros, J., Martins, S., & Silveira, I. (2011). Epidemiology and population genetics of degenerative ataxias. Handbook of Clinical Neurology (Vol. 103, pp. 227 - 251).
Lobato, L., Beirão, I., Silva, M., Fonseca, I., et al. (2004). End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: Presentation, survival and prognostic factors. Amyloid, 11(1), 27 - 37.
Sequeiros, J., Martindale, J., & Seneca, S. (2010). EMQN Best Practice Guidelines for molecular genetic testing of SCAs. European Journal of Human Genetics, 18(11), 1173 - 1176.
Lafrenière, R. G., Cader, M. Z., Poulin, J. - F., Andres-Enguix, I., et al. (2010). A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nature Medicine, 16(10), 1157 - 1160.
Emmel, V. E., Alonso, I., Jardim, L. B., Saraiva-Pereira, M. L., & Sequeiros, J. (2011). Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?. Clinical Genetics, 79(1), 100 - 102.
Mendes, A., Sousa, L., Sequeiros, J., & Clarke, A. (2017). Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal. Social Science and Medicine, 182, 73 - 80.
Patch, C., Sequeiros, J., & Cornel, M. C. (2009). Direct to consumer genetic tests. European Journal of Human Genetics, 17(9), 1111.
Cecchin, C. R., Pires, A. P., Rieder, C. R., Monte, T. L., et al. (2006). Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. Community Genetics, 10(1), 19 - 26.
Lêdo, S., Leite, Â., Souto, T., Dinis, M. A., & Sequeiros, J. (2016). Depression as the Middle-and Long-Term Impact for Pre-Symptomatic Testing of Late-Onset Neurodegenerative Disorders. Temas em Psicologia, 24(2), 579 - 594.
Varga, O., Soini, S., Kääriäinen, H., Cassiman, J. - J., et al. (2012). Definitions of genetic testing in European legal documents. Journal of Community Genetics, 3(2), 125 - 141.
Santos, P. I., Figueiredo, E., Gomes, I., & Sequeiros, J. (2010). Death anxiety and symbolic immortality in relatives at risk for familial amyloid polyneuropathy type I (FAP I, ATTR V30M). Journal of Genetic Counseling, 19(6), 585 - 592.


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@i3s.up.pt | © copyright 2010 ibmc