%0 Journal Article %J Arquivos de Neuro-Psiquiatria %D 2017 %T Paula coutinho’s outstanding contribution to the definition of Machado-Joseph disease %A Garcia, B.C.M. %A Germiniani, F.M.B. %A Marques, P. %A Sequeiros, J. %A Teive, H.A.G. %B Arquivos de Neuro-Psiquiatria %V 75 %P 748 - 750 %8 2017 %G eng %U https://www.scopus.com/inward/record.uri?eid=2-s2.0-85036568429&doi=10.1590%2f0004-282x20170127&partnerID=40&md5=6290efdbfee569dfddddbb8cac2043ce %N 10 %0 Journal Article %J American Journal of Human Genetics %D 2017 %T A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia %A Seixas, A.I. %A Loureiro, J.R. %A Costa, C. %A Ordóñez-Ugalde, A. %A Marcelino, H. %A Oliveira, C.L. %A Loureiro, J.L. %A Dhingra, A. %A Brandão, E. %A Cruz, V.T. %A Timóteo, A. %A Quintáns, B. %A Rouleau, G.A. %A Rizzu, P. %A Carracedo, A. %A Bessa, J. %A Heutink, P. %A Sequeiros, J. %A Sobrido, M.J. %A Coutinho, P. %A Silveira, I. %B American Journal of Human Genetics %V 101 %P 87 - 103 %8 2017 %G eng %U https://www.scopus.com/inward/record.uri?eid=2-s2.0-85021415706&doi=10.1016%2fj.ajhg.2017.06.007&partnerID=40&md5=84985cdc99a86734726baafd72a2cdc3 %N 1 %0 Journal Article %J Psicothema %D 2017 %T Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact %A Lêdo, S. %A Leite, Â. %A Souto, T. %A Dinis, M.A.P. %A Sequeiros, J. %B Psicothema %V 29 %P 446 - 452 %8 2017 %G eng %U https://www.scopus.com/inward/record.uri?eid=2-s2.0-85032024591&doi=10.7334%2fpsicothema2016.298&partnerID=40&md5=306202bfee8c72be6226d0bba52706ad %N 4 %0 Generic %D 2013 %T The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal %A Barros, J. %A Ruano, L. %A Domingos, J. %A Tuna, A. %A Damásio, J. %A Alonso, I. %A Silveira, I. %A Sequeiros, J. %A Coutinho, P. %B Headache %8 2013 %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-84886743970&partnerID=40&md5=dfc1f06cc2e9ced02dc83f97f6703e26 %0 Journal Article %J European Journal of Human Genetics %D 2008 %T Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics %A Aymé, S. %A Matthijs, G. %A Anastasiadou, V. %A Atalar, F. %A Braga, S. %A Burn, J. %A Cassiman, J.-J. %A Cornel, M. %A Coviello, D. %A Evers-Kiebooms, G. %A Gorry, P. %A Hodgson, S. %A Kääriäinen, H. %A Kosztolányl, G. %A Kristoffersson, U. %A Macek Jr., M. %A Patch, C. %A Schmidtke, J. %A Sequeiros, J. %A Stoppa-Lyonnet, D. %A Tranebjærg, L. %A van Heyningen, V. %A van Ommen, G.-J. %B European Journal of Human Genetics %V 16 %P S3 - S9 %8 2008/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-47149100308&partnerID=40&md5=14978124828df2f650e88a9c704f4a3b %N SUPPL. 1 %0 Journal Article %J Journal of Genetic Counseling %D 2007 %T Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba %A Paneque, M. %A Lemos, C. %A Escalona, K. %A Prieto, L. %A Reynaldo, R. %A Velázquez, M. %A Quevedo, J. %A Santos, N. %A Almaguer, L.E. %A Velázquez, L. %A Sousa, A. %A Fleming, M. %A Sequeiros, J. %B Journal of Genetic Counseling %V 16 %P 469 - 479 %8 2007/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-34548163596&partnerID=40&md5=99da67ffcffa2eef1295edefe1081e4c %N 4 %0 Journal Article %J Journal of Genetic Counseling %D 2006 %T The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: Development of a new self-response inventory %A Rolim, L. %A Zagalo-Cardoso, J.A. %A Paúl, C. %A Sequeiros, J. %A Fleming, M. %B Journal of Genetic Counseling %V 15 %P 375 - 391 %8 2006/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-33749872841&partnerID=40&md5=dc3ba3f55147ffa56f1bc03fe7162690 %N 5 %0 Journal Article %J Clinical Genetics %D 2006 %T Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I %A Rolim, L. %A Leite, Â. %A Lêdo, S. %A Paneque, M. %A Sequeiros, J. %A Fleming, M. %B Clinical Genetics %V 69 %P 297 - 305 %8 2006/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-33645467001&partnerID=40&md5=7511f8f57c702faafa363df06b6e95ae %N 4 %0 Journal Article %J Human Heredity %D 2005 %T Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal %A Lima, M. %A Costa, M.C. %A Montiel, R. %A Ferro, A. %A Santos, C. %A Silva, C. %A Bettencourt, C. %A Sousa, A. %A Sequeiros, J. %A Coutinho, P. %A MacIel, P. %B Human Heredity %V 60 %P 156 - 163 %8 2005/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-31144472852&partnerID=40&md5=2a536d1c39a9c4b16dffad407bf2e971 %N 3 %0 Journal Article %J Impacto psicológico do teste pré-sintomático na doença de Machado-Joseph. Resultados preliminaresArquivos de Medicina %D 2004 %T Pshycho-social impact of presymptomatic testing in Machado-Joseph disease %A Fleming, M. %A Lêdo, S. %A Rocha, J.C. %A Sequeiros, J. %B Impacto psicológico do teste pré-sintomático na doença de Machado-Joseph. Resultados preliminaresArquivos de Medicina %V 18 %P 72 - 75+92 %8 2004/// %G eng %U http://www.scopus.com/inward/record.url?eid=2-s2.0-19644395532&partnerID=40&md5=71afc3d118f1d764687f1aeb068c4d4e %N 1-2