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R
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.
Matilla-Duenas, A., Corral-Juan, M., A. Seuma, R. - P., Vilas, D., et al. (2017). Rare neurodegenerative diseases: Clinical and genetic update. Advances in Experimental Medicine and Biology (Vol. 1031, pp. 443 - 496).
Q
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.
P
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.
Barros, J., Ruano, L., Domingos, J., Tuna, A., et al. (2013). The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal. Headache.
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.
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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.
M
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.
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.

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