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Author Title [ Type(Asc)] Year
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Journal Article
Sequeiros, J., Santos, C., & Jardim, L. B. (2009). Response to Tumas et al. Clinical Genetics, 75(2), 208.
McGovern, M. M., Elles, R., Beretta, I., Somerville, M. J., et al. (2007). Report of an international survey of molecular genetic testing laboratories. Community Genetics, 10(3), 123 - 131.
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.
Alonso, I., Jardim, L. B., Artigalas, O., Saraiva-Pereira, M. L., et al. (2006). Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology, 66(10), 1602 - 1604.
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.
Paneque, M., Sequeiros, J., & Skirton, H. (2012). Quality assessment of genetic counseling process in the context of presymptomatic testing for late-onset disorders: A thematic analysis of three review articles. Genetic Testing and Molecular Biomarkers, 16(1), 36 - 45.
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.
Rolim, L., Leite, Â., Lêdo, S., Paneque, M., et al. (2006). Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. Clinical Genetics, 69(4), 297 - 305.
Fleming, M., Lêdo, S., Rocha, J. C., & Sequeiros, J. (2004). Pshycho-social impact of presymptomatic testing in Machado-Joseph disease. Impacto psicológico do teste pré-sintomático na doença de Machado-Joseph. Resultados preliminaresArquivos de Medicina, 18(1-2), 72 - 75+92.
Lêdo, S., Leite, Â., Souto, T., Dinis, M. A. P., & Sequeiros, J. (2017). Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact. Psicothema, 29(4), 446 - 452.
Lima, M., Costa, M. C., Montiel, R., Ferro, A., et al. (2005). Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal. Human Heredity, 60(3), 156 - 163.
Rolim, L., Zagalo-Cardoso, J. A., Paúl, C., Sequeiros, J., & Fleming, M. (2006). The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: Development of a new self-response inventory. Journal of Genetic Counseling, 15(5), 375 - 391.
Seixas, A. I., Loureiro, J. R., Costa, C., Ordóñez-Ugalde, A., et al. (2017). A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. American Journal of Human Genetics, 101(1), 87 - 103.
Garcia, B. C. M., Germiniani, F. M. B., Marques, P., Sequeiros, J., & Teive, H. A. G. (2017). Paula coutinho’s outstanding contribution to the definition of Machado-Joseph disease. Arquivos de Neuro-Psiquiatria, 75(10), 748 - 750.
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.
Prior, C., Nunes, A., Rios, M., Sequeiros, J., et al. (2010). Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention. Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención tempranaAnales de Pediatria, 72(3), 191 - 198.
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.
Alonso, I., Barros, J., Tuna, A., Seixas, A., et al. (2004). A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine [6]. Clinical Genetics, 65(1), 70 - 72.
Alonso, I., Costa, C., Gomes, A., Ferro, A., et al. (2005). A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14. Journal of Human Genetics, 50(10), 523 - 529.
Rodrigues, F., Paneque, M., Reis, C., Venâncio, M., et al. (2013). Non-syndromic sensorineural prelingual deafness: The importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness. Journal of Genetic Counseling, 22(4), 448 - 454.
do Carmo Costa, M., Costa, C., Silva, A. P., Evangelista, P., et al. (2005). Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics, 6(4), 209 - 215.
MacIel, P., Cruz, V. T., Constante, M., Iniesta, I., et al. (2005). Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology, 65(4), 603 - 605.
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.
Bras, J., Alonso, I., Barbot, C., Costa, M. M., et al. (2015). Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics, 96(3), 474 - 479.
Martins, S., Calafell, F., Wong, V. C. N., Sequeiros, J., & Amorim, A. (2006). A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. European Journal of Human Genetics, 14(8), 932 - 940.

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