Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal - Mendes, A.; Sousa, L.; Sequeiros, J.; Clarke, A. (Social Science and Medicine, 2017)

Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset - Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Lemos, C.; Sousa, A. (Annals of Clinical and Translational Neurology, 2017)

Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases - Leite, Â.; Dinis, M.A.P.; Sequeiros, J.; Paúl, C. (Psychology, Health and Medicine, 2017)

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias - Morais, S.; Raymond, L.; Mairey, M.; Coutinho, P.; Brandão, E.; Ribeiro, P.; Loureiro, J.L.; Sequeiros, J.; Brice, A.; Alonso, I.; Stevanin, G. (European Journal of Human Genetics, 2017)

Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases - Leite, Â.; Dinis, M.A.P.; Sequeiros, J.; Paúl, C. (Interdisciplinaria, 2017)

Paula coutinho’s outstanding contribution to the definition of Machado-Joseph disease - Garcia, B.C.M.; Germiniani, F.M.B.; Marques, P.; Sequeiros, J.; Teive, H.A.G. (Arquivos de Neuro-Psiquiatria, 2017)

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia - Seixas, A.I.; Loureiro, J.R.; Costa, C.; Ordóñez-Ugalde, A.; Marcelino, H.; Oliveira, C.L.; Loureiro, J.L.; Dhingra, A.; Brandão, E.; Cruz, V.T.; Timóteo, A.; Quintáns, B.; et al. (American Journal of Human Genetics, 2017)

Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact - Lêdo, S.; Leite, Â.; Souto, T.; Dinis, M.A.P.; Sequeiros, J. (Psicothema, 2017)

Rare neurodegenerative diseases: Clinical and genetic update - Matilla-Duenas, A.; Corral-Juan, M.; Rodríguez-Palmero Seuma, A.; Vilas, D.; Ispierto, L.; Morais, S.; Sequeiros, J.; Alonso, I.; Volpini, V.; Serrano-Munuera, C.; Pintos-Morell, G.; Alvarez, R.; et al. (Advances in Experimental Medicine and Biology, 2017)

Risk perception in subjects at-risk for Familial Amyloidotic Polyneuropathy - Leitea, Â.; Dinis, M.A.P.; Sequeiros, J.; Paúl, C. (Universitas Psychologica, 2017)

Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil - Gheno, T.C.; Furtado, G.V.; Saute, J.A.M.; Donis, K.C.; Fontanari, A.M.V.; Emmel, V.E.; Pedroso, J.L.; Barsottini, O.; Godeiro-Junior, C.; van der Linden, H.; Ternes Pereira, E.; Cintra, V.P.; et al. (European Journal of Neurology, 2017)

A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal - Alves-Ferreira, M.; Coelho, T.; Santos, D.; Sequeiros, J.; Alonso, I.; Sousa, A.; Lemos, C. (Molecular Neurobiology, 2017)

Ubiquitin-related network underlain by (CAG)nloci modulate age at onset in Machado-Joseph disease - Chen, Z.; Wang, C.; Zheng, C.; Long, Z.; Cao, L.; Li, X.; Shang, H.; Yin, X.; Zhang, B.; Liu, J.; Ding, D.; Peng, Y.; et al. (Brain, 2017)

(CAG)nloci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China - Chen, Z.; Zheng, C.; Long, Z.; Cao, L.; Li, X.; Shang, H.; Yin, X.; Zhang, B.; Liu, J.; Ding, D.; Peng, Y.; Wang, C.; et al. (Brain, 2016)

Depression as the Middle-and Long-Term Impact for Pre-Symptomatic Testing of Late-Onset Neurodegenerative Disorders - Lêdo, S.; Leite, Â.; Souto, T.; Dinis, M.A.; Sequeiros, J. (Temas em Psicologia, 2016)

How communication of genetic information within the family is addressed in genetic counselling: A systematic review of research evidence - Mendes, A.; Paneque, M.; Sousa, L.; Clarke, A.; Sequeiros, J. (European Journal of Human Genetics, 2016)

Large-scale functional RNAi Screen in C. elegans identifies TGF-β and notch signaling pathways as modifiers of CACNAIA - da Conceição Pereira, M.; Morais, S.; Sequeiros, J.; Alonso, I. (ASN Neuro, 2016)

Mid-and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy - Lêdo, S.; Leite, Â.; Souto, T.; Dinis, M.A.; Sequeiros, J. (Revista Brasileira de Psiquiatria, 2016)

Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations - Leite, Â.; Dinis, M.A.P.; Sequeiros, J.; Paúl, C. (Journal of Genetic Counseling, 2016)

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) - Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Lemos, C.; Sousa, A. (European Journal of Human Genetics, 2016)

Chromosome substitution strain assessment of a Huntington’s disease modifier locus - Ramos, E.M.; Kovalenko, M.; Guide, J.R.; St. Claire, J.; Gillis, T.; Mysore, J. S.; Sequeiros, J.; Wheeler, V.C.; Alonso, I.; MacDonald, M. E. (Mammalian Genome, 2015)

Genetic Counseling in Portugal: Education, Practice and a Developing Profession - Paneque, M.; Mendes, Á.; Saraiva, J.; Sequeiros, J. (Journal of Genetic Counseling, 2015)

Genetics and ethics in Latin America - Sequeiros, J.; Gibbon, S.; Clarke, A. (Journal of Community Genetics, 2015)

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease - Ramos, E.M.; Gillis, T.; Mysore, J. S.; Lee, J. -M.; Gögele, M.; D'Elia, Y.; Pichler, I.; Sequeiros, J.; Pramstaller, P.P.; Gusella, J. F.; MacDonald, M. E.; Alonso, I. (American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 2015)

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence - Mendes, .; Paneque, M.; Sousa, L.; Clarke, A.; Sequeiros, J. (European Journal of Human Genetics, 2015)

Machado-Joseph disease in a Nigerian family: Mutational origin and review of the literature - Ogun, S.A.; Martins, S.; Adebayo, P.B.; Dawodu, C.O.; Sequeiros, J.; Finkel, M.F. (European Journal of Human Genetics, 2015)

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4 - Bras, J.; Alonso, I.; Barbot, C.; Costa, M.M.; Darwent, L.; Orme, T.; Sequeiros, J.; Hardy, J.; Coutinho, P.; Guerreiro, R. (American Journal of Human Genetics, 2015)

Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations - Leite, Â.; Dinis, M.A.P.; Sequeiros, J.; Paúl, C. (Journal of Genetic Counseling, 2015)

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) - Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Lemos, C.; Sousa, A. (European Journal of Human Genetics, 2015)

Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey - Loureiro, J.L.; Brandão, E.; Ruano, L.; Brandão, A.F.; Lopes, A. M.; Thieleke-Matos, C.; Miller-Fleming, L.; Cruz, V.T.; Barbosa, M.; Silveira, I.; Stevanin, G.; Pinto-Basto, J.; et al. (JAMA Neurology, 2013)

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset - Ramos, E.M.; Latourelle, J.C.; Gillis, T.; Mysore, J. S.; Squitieri, F.; Di Pardo, A.; Di Donato, S.; Gellera, C.; Hayden, M. R.; Morrison, P. J.; Nance, M.; Ross, C.A.; et al. (Neurogenetics, 2013)

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large portuguese family - Barros, J.; Damásio, J.; Tuna, A.; Alves, I.; Silveira, I.; Pereira-Monteiro, J.; Sequeiros, J.; Alonso, I.; Sousa, A.; Coutinho, P. (JAMA Neurology, 2013)

Huntington disease and Huntington disease-like in a case series from Brazil - Castilhos, R.; Souza, A.; Furtado, G.; Gheno, T.; Silva, A.; Vargas, F.; Lima, M.-A.; Barsottini, O.; Pedroso, J.; Godeiro, C.; Salarini, D.; Pereira, E.; et al. (Clinical Genetics, 2013)

Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility - Quintas, M.; Neto, J.L.; Pereira-Monteiro, J.; Barros, J.; Sequeiros, J.; Sousa, A.; Alonso, I.; Lemos, C. (PLoS ONE, 2013)

Non-syndromic sensorineural prelingual deafness: The importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness - Rodrigues, F.; Paneque, M.; Reis, C.; Venâncio, M.; Sequeiros, J.; Saraiva, J. (Journal of Genetic Counseling, 2013)

The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal - Barros, J.; Ruano, L.; Domingos, J.; Tuna, A.; Damásio, J.; Alonso, I.; Silveira, I.; Sequeiros, J.; Coutinho, P. (Headache, 2013)

What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand's Perspective - Guimarães, L.; Sequeiros, J.; Skirton, H.; Paneque, M. (Journal of Genetic Counseling, 2013)

Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations - Conceiço Pereira, M.; Loureiro, J.L.; Pinto-Basto, J.; Brando, E.; Margarida Lopes, A.; Neves, G.; Dias, P.; Geraldes, R.; Martins, I.P.; Cruz, V.T.; Kamsteeg, E.-J.; Brunner, H.G.; et al. (Genetics in Medicine, 2012)

Ataxia rating scales-psychometric profiles, natural history and their application in clinical trials - Saute, J.A.M.; Donis, K.C.; Serrano-Munuera, C.; Genis, D.; Ramirez, L. T.; Mazzetti, P.; Pérez, L. V.; Latorre, P.; Sequeiros, J.; Matilla-Duenas, A.; Jardim, L.B. (Cerebellum, 2012)

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion - Lee, J. -M.; Ramos, E.M.; Lee, J. -H.; Gillis, T.; Mysore, J. S.; Hayden, M. R.; Warby, S. C.; Morrison, P.; Nance, M.; Ross, C.A.; Margolis, R.L.; Squitieri, F.; et al. (Neurology, 2012)

The challenges of incorporating genetic testing in the Unified National Health System in Brazil - Melo, D. G.; Sequeiros, J. (Genetic Testing and Molecular Biomarkers, 2012)

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region - Lee, J. -M.; Gillis, T.; Mysore, J. S.; Ramos, E.M.; Myers, R. H.; Hayden, M. R.; Morrison, P. J.; Nance, M.; Ross, C.A.; Margolis, R.L.; Squitieri, F.; Griguoli, A.; et al. (American Journal of Human Genetics, 2012)

'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization - García-Murias, M.; Quintáns, B.; Arias, M.; Seixas, A.I.; Cacheiro, P.; Tarrío, R.; Pardo, J.; Millán, M. J.; Arias-Rivas, S.; Blanco-Arias, P.; Dapena, D.; Moreira, R.; et al. (Brain, 2012)

Definitions of genetic testing in European legal documents - Varga, O.; Soini, S.; Kääriäinen, H.; Cassiman, J.-J.; Nippert, I.; Rogowski, W.; Nys, H.; Kristoffersson, U.; Schmidtke, J.; Sequeiros, J. (Journal of Community Genetics, 2012)

Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions - Ramos, E.M.; Cerqueira, J.; Lemos, C.; Pinto-Basto, J.; Alonso, I.; Sequeiros, J. (Movement Disorders, 2012)

Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis - Couto, A.R.; Zhang, Y.; Timms, A.; Bruges-Armas, J.; Sequeiros, J.; Brown, M.A. (Rheumatology International, 2012)

Quality assessment of genetic counseling process in the context of presymptomatic testing for late-onset disorders: A thematic analysis of three review articles - Paneque, M.; Sequeiros, J.; Skirton, H. (Genetic Testing and Molecular Biomarkers, 2012)

Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3) - Bettencourt, C.; Raposo, M.; Kazachkova, N.; Santos, C.; Kay, T.; Vasconcelos, J.; MacIel, P.; Donis, K.C.; Saraiva-Pereira, M.L.; Jardim, L.B.; Sequeiros, J.; Bruges-Armas, J.; et al. (Cerebellum, 2012)

Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations - Martindale, J. E.; Seneca, S.; Wieczorek, S.; Sequeiros, J. (Human Mutation, 2012)

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease - Lee, J. -H.; Lee, J. -M.; Ramos, E.M.; Gillis, T.; Mysore, J. S.; Kishikawa, S.; Hadzi, T.; Hendricks, A. E.; Hayden, M. R.; Morrison, P. J.; Nance, M.; Ross, C.A.; et al. (Biochemical and Biophysical Research Communications, 2012)

The wide variation of definitions of genetic testing in international recommendations, guidelines and reports - Sequeiros, J.; Paneque, M.; Guimarães, B.; Rantanen, E.; Javaher, P.; Nippert, I.; Schmidtke, J.; Kääriäainen, H.; Kristoffersson, U.; Cassiman, J.-J. (Journal of Community Genetics, 2012)

The APOE ε 2 allele increases the risk of earlier age at onset in Machado-Joseph disease - Bettencourt, C.; Raposo, M.; Kazachkova, N.; Cymbron, T.; Santos, C.; Kay, T.; Vasconcelos, J.; MacIel, P.; Donis, K.C.; Saraiva-Pereira, M.L.; Jardim, L.B.; Sequeiros, J.; et al. (Archives of Neurology, 2011)

Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients? - Emmel, V.E.; Alonso, I.; Jardim, L.B.; Saraiva-Pereira, M.L.; Sequeiros, J. (Clinical Genetics, 2011)

Epidemiology and population genetics of degenerative ataxias - Sequeiros, J.; Martins, S.; Silveira, I. (Handbook of Clinical Neurology, 2011)

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes - Seixas, A.I.; Vale, J.; Jorge, P.; Marques, I.; Santos, R.; Alonso, I.; Fortuna, A.M.; Pinto-Basto, J.; Coutinho, P.; Margolis, R.L.; Sequeiros, J.; Silveira, I. (Behavioral and Brain Functions, 2011)

Genetic testing and common disorders in a public health framework: How to assess relevance and possibilities - Becker, F.; Van El, C.G.; Ibarreta, D.; Zika, E.; Hogarth, S.; Borry, P.; Cambon-Thomsen, A.; Cassiman, J.J.; Evers-Kiebooms, G.; Hodgson, S.; Janssens, A.C.J.W.; Kaariainen, H.; et al. (European Journal of Human Genetics, 2011)

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes - Temudo, T.; Santos, M.; Ramos, E.; Dias, K.; Vieira, J.P.; Moreira, A.; Calado, E.; Carrilho, I.; Oliveira, G.; Levy, A.; Barbot, C.; Fonseca, M.; et al. (Brain and Development, 2011)

A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients - Lemos, C.; Neto, J.L.; Pereira-Monteiro, J.; Mendonça, D.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A. (European Journal of Neurology, 2011)

Y-STR haplotypes in three ethnic linguistic groups of Angola population - Melo, M.M.; Carvalho, M.; Lopes, V.; Anjos, M.J.; Serra, A.; Vieira, D.N.; Sequeiros, J.; Corte-Real, F. (Forensic Science International: Genetics, 2011)

Ataxia and progressive encephalopathy in a 4-year-old girl - Spears, M.D.; Melton, S.; Mao, Q.; Payne, D.; Rakheja, D.; Hatanpaa, K.J.; Burns, D.K.; Sequeiros, J.; Alonso, I. (Laboratory Medicine, 2010)

Autosomal dominant cerebellar ataxia: Frequency analysis and clinical characterization of 45 families from Portugal - Vale, J.; Bugalho, P.; Silveira, I.; Sequeiros, J.; Guimarães, J.; Coutinho, P. (European Journal of Neurology, 2010)

BDNF and CGRP interaction: Implications in migraine susceptibility - Lemos, C.; Mendonça, D.; Pereira-Monteiro, J.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A. (Cephalalgia, 2010)

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2) - Ramos, E.M.; Martins, S.; Alonso, I.; Emmel, V.E.; Saraiva-Pereira, M.L.; Jardim, L.B.; Coutinho, P.; Sequeiros, J.; Silveira, I. (American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 2010)

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias - Sequeiros, J.; Seneca, S.; Martindale, J. (European Journal of Human Genetics, 2010)

Death anxiety and symbolic immortality in relatives at risk for familial amyloid polyneuropathy type I (FAP I, ATTR V30M) - Santos, P.I.; Figueiredo, E.; Gomes, I.; Sequeiros, J. (Journal of Genetic Counseling, 2010)

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura - Lafrenière, R.G.; Cader, M.Z.; Poulin, J.-F.; Andres-Enguix, I.; Simoneau, M.; Gupta, N.; Boisvert, K.; Lafrenière, F.; McLaughlan, S.; Dubé, M.-P.; Marcinkiewicz, M.M.; Ramagopalan, S.; et al. (Nature Medicine, 2010)

EMQN Best Practice Guidelines for molecular genetic testing of SCAs - Sequeiros, J.; Martindale, J.; Seneca, S. (European Journal of Human Genetics, 2010)

Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study - Lemos, C.; Pereira-Monteiro, J.; Mendonça, D.; Ramos, E.M.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A. (Archives of Neurology, 2010)

Genetic screening in Europe - Javaher, P.; Nyoungui, E.; Kääriäinen, H.; Kristoffersson, U.; Nippert, I.; Sequeiros, J.; Schmidtke, J. (Public Health Genomics, 2010)

Genetic study of 15 STRs loci of Identifiler system in Angola population - Melo, M.M.; Carvalho, M.; Lopes, V.; Anjos, M.J.; Serra, A.; Vieira, D.N.; Sequeiros, J.; Corte-Real, F. (Forensic Science International: Genetics, 2010)

Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population - Sequeiros, J.; Ramos, E.M.; Cerqueira, J.; Costa, M.C.; Sousa, A.; Pinto-Basto, J.; Alonso, I. (Clinical Genetics, 2010)

Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention - Prior, C.; Nunes, A.; Rios, M.; Sequeiros, J.; MacIel, P.; Gomes, L.; Temudo, T. (Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención tempranaAnales de Pediatria, 2010)

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10) - Almeida, T.; Alonso, I.; Martins, S.; Ramos, E.M.; Azevedo, L.; Ohno, K.; Amorim, A.; Saraiva-Pereira, M.L.; Jardim, L.B.; Matsuura, T.; Sequeiros, J.; Silveira, I. (PLoS ONE, 2009)

Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients - Anheim, M.; Monga, B.; Fleury, M.; Charles, P.; Barbot, C.; Salih, M.; Delaunoy, J.P.; Fritsch, M.; Arning, L.; Synofzik, M.; Schöls, L.; Sequeiros, J.; et al. (Brain, 2009)

Direct to consumer genetic tests - Patch, C.; Sequeiros, J.; Cornel, M.C. (European Journal of Human Genetics, 2009)

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment - Temudo, T.; Rios, M.; Prior, C.; Carrilho, I.; Santos, M.; MacIel, P.; Sequeiros, J.; Fonseca, M.; Monteiro, J.; Cabral, P.; Vieira, J.P.; Ormazabal, A.; et al. (Brain and Development, 2009)

Familial clustering of migraine: Further evidence from a portuguese study - Lemos, C.; Castro, M.-J.; Barros, J.; Sequeiros, J.; Pereira-Monteiro, J.; Mendonça, D.; Sousa, A. (Headache, 2009)

First mutation in the voltage-gated NaV1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy - Castro, M.-J.; Stam, A.H.; Lemos, C.; De Vries, B.; Vanmolkot, K.R.J.; Barros, J.; Terwindt, G.M.; Frants, R.R.; Sequeiros, J.; Ferrari, M.D.; Pereira-Monteiro, J.M.; Van Den Maagdenberg, A.M.J.M. (Cephalalgia, 2009)

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families - Loureiro, J.L.; Miller-Fleming, L.; Thieleke-Matos, C.; Magalhães, P.; Cruz, V.T.; Coutinho, P.; Sequeiros, J.; Silveira, I. (Acta Neurologica Scandinavica, 2009)

Response to Tumas et al - Sequeiros, J.; Santos, C.; Jardim, L.B. (Clinical Genetics, 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 - Paneque, M.; Lemos, C.; Sousa, A.; Velázquez, L.; Fleming, M.; Sequeiros, J. (Journal of Genetic Counseling, 2009)

Atypical stereotypies and vocal ties in rett syndrome: An illustrative case - Temudo, T.; Freitas, P.; Sequeiros, J.; MacIel, P.; Oliveira, G. (Movement Disorders, 2008)

The C677T polymorphism in MTHFR is not associated with migraine in Portugal - Ferro, A.; Castro, M.-J.; Lemos, C.; Santos, M.; Sousa, A.; Pereira-Monteiro, J.; Sequeiros, J.; MacIel, P. (Disease Markers, 2008)

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease - Martins, S.; Coutinho, P.; Silveira, I.; Giunti, P.; Jardim, L.B.; Calafell, F.; Sequeiros, J.; Amorim, A. (American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 2008)

EuroGentest: DNA-based testing for heritable disorders in Europe - Javaher, P.; Kääriäinen, H.; Kristoffersson, U.; Nippert, I.; Sequeiros, J.; Zimmern, R.; Schmidtke, J. (Community Genetics, 2008)

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias - Seneca, S.; Morris, M.A.; Patton, S.; Elles, R.; Sequeiros, J. (European Journal of Human Genetics, 2008)

Huntington disease-like 2: The first patient with apparent European ancestry - Santos, C.; Wanderley, H.; Vedolin, L.; Pena, S.D.J.; Jardim, L.; Sequeiros, J. (Clinical Genetics, 2008)

Machado-Joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population - Prestes, P.R.; Saraiva-Pereira, M.L.; Silveira, I.; Sequeiros, J.; Jardim, L.B. (Annals of Human Genetics, 2008)

Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant - Alonso, I.; Marques, J.M.; Sousa, N.; Sequeiros, J.; Olsson, I.A.S.; Silveira, I. (Neurobiology of Aging, 2008)

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type - Temudo, T.; Ramos, E.; Dias, K.; Barbot, C.; Vieira, J.P.; Moreira, A.; Calado, E.; Carrilho, I.; Oliveira, G.; Levy, A.; Fonseca, M.; Cabral, A.; et al. (Movement Disorders, 2008)

Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics - Aymé, S.; Matthijs, G.; Anastasiadou, V.; Atalar, F.; Braga, S.; Burn, J.; Cassiman, J.-J.; Cornel, M.; Coviello, D.; Evers-Kiebooms, G.; Gorry, P.; Hodgson, S.; et al. (European Journal of Human Genetics, 2008)

Regulations and practices of genetic counselling in 38 European countries: The perspective of national representatives - Rantanen, E.; Hietala, M.; Kristoffersson, U.; Nippert, I.; Schmidtke, J.; Sequeiros, J.; Kääriäinen, H. (European Journal of Human Genetics, 2008)

Two novel functional mutations in the Na+, K+ -ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes - Castro, M.-J.; Nunes, B.; De Vries, B.; Lemos, C.; Vanmolkot, K.R.J.; van den Heuvel, J.J.M.W.; Temudo, T.; Barros, J.; Sequeiros, J.; Frants, R.R.; Koenderink, J.B.; Pereira-Monteiro, J.M.; et al. (Clinical Genetics, 2008)

What is ideal genetic counselling? A survey of current international guidelines - Rantanen, E.; Hietala, M.; Kristoffersson, U.; Nippert, I.; Schmidtke, J.; Sequeiros, J.; Kääriäinen, H. (European Journal of Human Genetics, 2008)

Abnormal movements in rett syndrome are present before the regression period: A case study - Temudo, T.; MacIel, P.; Sequeiros, J. (Movement Disorders, 2007)

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease - Martins, S.; Calafell, F.; Gaspar, C.; Wong, V.C.N.; Silveira, I.; Nicholson, G.A.; Brunt, E.R.; Tranebjaerg, L.; Stevanin, G.; Hsieh, M.; Soong, B.-W.; Loureiro, L.; et al. (Archives of Neurology, 2007)

Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3 - Rodrigues, A.-J.; Coppola, G.; Santos, C.; Costa, M.D.C.; Ailion, M.; Sequeiros, J.; Geschwind, D.H.; MacIel, P. (FASEB Journal, 2007)

NEDD8: A new ataxin-3 interactor - Ferro, A.; Carvalho, A.L.; Teixeira-Castro, A.; Almeida, C.; Tomé, R.J.; Cortes, L.; Rodrigues, A.-J.; Logarinho, E.; Sequeiros, J.; Macedo-Ribeiro, S.; MacIel, P. (Biochimica et Biophysica Acta - Molecular Cell Research, 2007)

Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba - Paneque, M.; Lemos, C.; Escalona, K.; Prieto, L.; Reynaldo, R.; Velázquez, M.; Quevedo, J.; Santos, N.; Almaguer, L.E.; Velázquez, L.; Sousa, A.; Fleming, M.; et al. (Journal of Genetic Counseling, 2007)

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine - Castro, M.-J.; Stam, A.H.; Lemos, C.; Barros, J.; Gouveia, R.G.; Martins, I.P.; Koenderink, J.B.; Vanmolkot, K.R.J.; Mendes, A.P.; Frants, R.R.; Ferrari, M.D.; Sequeiros, J.; et al. (Journal of Human Genetics, 2007)

Report of an international survey of molecular genetic testing laboratories - McGovern, M.M.; Elles, R.; Beretta, I.; Somerville, M.J.; Hoefler, G.; Keinanen, M.; Barton, D.; Carson, N.; Dequeker, E.; Brdicka, R.; Blazkova, A.; Aymé, S.; et al. (Community Genetics, 2007)

Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations - Temudo, T.; Oliveira, P.; Santos, M.; Dias, K.; Vieira, J.; Moreira, A.; Calado, E.; Carrilho, I.; Oliveira, G.; Levy, A.; Barbot, C.; Fonseca, M.; et al. (Neurology, 2007)

The CAG repeat at the Huntington disease gene in the Portuguese population: Insights into its dynamics and to the origin of the mutation - Costa, M.D.C.; Magalhães, P.; Guimarães, L.; MacIel, P.; Sequeiros, J.; Sousa, A. (Journal of Human Genetics, 2006)

Corino Andrade (1906-2005): a clinical geneticist before its own time. - Sequeiros, J. (Clinical genetics, 2006)

Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives - Cecchin, C.R.; Pires, A.P.; Rieder, C.R.; Monte, T.L.; Silveira, I.; Carvalho, T.; Saraiva-Pereira, M.L.; Sequeiros, J.; Jardim, L.B. (Community Genetics, 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 - Costa, M.D.C.; Teixeira-Castro, A.; Constante, M.; Magalhães, M.; Magalhães, P.; Cerqueira, J.; Vale, J.; Passão, V.; Barbosa, C.; Robalo, C.; Coutinho, P.; Barros, J.; et al. (Journal of Human Genetics, 2006)

The interface between assisted reproductive technologies and genetics: Technical, social, ethical and legal issues - Soini, S.; Ibarreta, D.; Anastasiadou, V.; Aymé, Sé.; Braga, S.; Cornel, M.; Coviello, D.A.; Evers-Kiebooms, G.; Geraedts, J.; Gianaroli, L.; Harper, J.; Kosztolanyi, G.; et al. (European Journal of Human Genetics, 2006)

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus - Martins, S.; Calafell, F.; Wong, V.C.N.; Sequeiros, J.; Amorim, A. (European Journal of Human Genetics, 2006)

The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: Development of a new self-response inventory - Rolim, L.; Zagalo-Cardoso, J.A.; Paúl, C.; Sequeiros, J.; Fleming, M. (Journal of Genetic Counseling, 2006)

Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I - Rolim, L.; Leite, Â.; Lêdo, S.; Paneque, M.; Sequeiros, J.; Fleming, M. (Clinical Genetics, 2006)

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10 - Alonso, I.; Jardim, L.B.; Artigalas, O.; Saraiva-Pereira, M.L.; Matsuura, T.; Ashizawa, T.; Sequeiros, J.; Silveira, I. (Neurology, 2006)

Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3] - Trott, A.; Jardim, L.B.; Ludwig, H.T.; Saute, J.A.M.; Artigalás, O.; Kieling, C.; Wanderley, H.Y.C.; Rieder, C.R.M.; Monte, T.L.; Socal, M.; Alonso, I.; Ferro, A.; et al. (Clinical Genetics, 2006)

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles - Martins, S.; Seixas, A.I.; Magalhães, P.; Coutinho, P.; Sequeiros, J.; Silveira, I. (American Journal of Medical Genetics - Neuropsychiatric Genetics, 2005)

Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement - MacIel, P.; Cruz, V.T.; Constante, M.; Iniesta, I.; Costa, M.C.; Gallati, S.; Sousa, N.; Sequeiros, J.; Coutinho, P.; Santos, M.M. (Neurology, 2005)

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea - do Carmo Costa, M.; Costa, C.; Silva, A.P.; Evangelista, P.; Santos, L.; Ferro, A.; Sequeiros, J.; MacIel, P. (Neurogenetics, 2005)

A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14 - Alonso, I.; Costa, C.; Gomes, A.; Ferro, A.; Seixas, A.I.; Silva, S.; Cruz, V.T.; Coutinho, P.; Sequeiros, J.; Silveira, I. (Journal of Human Genetics, 2005)

Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal - Lima, M.; Costa, M.C.; Montiel, R.; Ferro, A.; Santos, C.; Silva, C.; Bettencourt, C.; Sousa, A.; Sequeiros, J.; Coutinho, P.; MacIel, P. (Human Heredity, 2005)

End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: Presentation, survival and prognostic factors - Lobato, L.; Beirão, I.; Silva, M.; Fonseca, I.; Queirós, J.; Rocha, G.; Sarmento, A.M.; Sousa, A.; Sequeiros, J. (Amyloid, 2004)

Frataxin overexpressing mice - Miranda, C.J.; Santos, M.M.; Ohshima, K.; Tessaro, M.; Sequeiros, J.; Pandolfo, M. (FEBS Letters, 2004)

Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene - do Carmo Costa, M.; Gomes-da-Silva, J.; Miranda, C.J.; Sequeiros, J.; Santos, M.M.; MacIel, P. (Genomics, 2004)

Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin - Santos, M.; do Carmo Costa, M.; Edite Rio, M.; José Sá, M.; Monteiro, M.; Valença, A.; Sá, A.; Dinis, J.; Figueiredo, J.; Bigotte de Almeida, L.; Valongueiro, A.; Coelho, I.; et al. (Multiple Sclerosis, 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] - Alonso, I.; Barros, J.; Tuna, A.; Seixas, A.; Coutinho, P.; Sequeiros, J.; Silveira, I. (Clinical Genetics, 2004)

Pshycho-social impact of presymptomatic testing in Machado-Joseph disease - Fleming, M.; Lêdo, S.; Rocha, J.C.; Sequeiros, J. (Impacto psicológico do teste pré-sintomático na doença de Machado-Joseph. Resultados preliminaresArquivos de Medicina, 2004)

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 - Moreira, M.-C.; Klur, S.; Watanabe, M.; Németh, A.H.; Le Ber, I.; Moniz, J.-C.; Tranchant, C.; Aubourg, P.; Tazir, M.; Schöls, L.; Pandolfo, M.; Schulz, J.B.; et al. (Nature Genetics, 2004)