All Stories

  1. Long-term predictors for psychological outcome of pre-symptomatic testing for LONDs

    Article • European Journal of Medical Genetics, March 2018, Elsevier

    Associate Professor, Hab, PhD, MSc (https://orcid.org/0000-0002-2198-6740; madinis@ufp.edu.pt) Maria Alzira Pimenta Dinis, Jorge Sequeiros

  2. Risk perception in subjects at-risk for Familial Amyloidotic Polyneuropathy

    Article • Universitas Psychologica, November 2017, Editorial Pontificia Universidad Javeriana

    Associate Professor, Hab, PhD, MSc (https://orcid.org/0000-0002-2198-6740; madinis@ufp.edu.pt) Maria Alzira Pimenta Dinis, Jorge Sequeiros

  3. Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study

    Article • Journal of Community Genetics, October 2017, Springer Science + Business Media

    Jorge Sequeiros, Isabel Fonseca

  4. Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease

    Article • Arquivos de Neuro-Psiquiatria, October 2017, FapUNIFESP (SciELO)

    Jorge Sequeiros

  5. Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

    Article • European Journal of Human Genetics, August 2017, Nature

    Jorge Sequeiros

  6. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1 , Mapping to SCA37 , Causes Spinocerebellar Ataxia

    Article • The American Journal of Human Genetics, July 2017, Elsevier

    Jorge Sequeiros

  7. Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal

    Article • Social Science & Medicine, June 2017, Elsevier

    Jorge Sequeiros

  8. Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil

    Article • European Journal of Neurology, May 2017, Wiley

    Prof Maria Luiza Saraiva-Pereira, Jorge Sequeiros

  9. A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal

    Article • Molecular Neurobiology, May 2017, Springer Science + Business Media

    Jorge Sequeiros

  10. Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease

    Article • Brain, February 2017, Oxford University Press (OUP)

    Jorge Sequeiros

  11. Rare Neurodegenerative Diseases: Clinical and Genetic Update

    Article • January 2017, Springer Science + Business Media

    Jorge Sequeiros, MD, PhD Guillem PINTOS-MORELL

  12. Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset

    Article • Annals of Clinical and Translational Neurology, December 2016, Wiley

    Jorge Sequeiros

  13. (CAG) n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China

    Article • Brain, April 2016, Oxford University Press (OUP)

    Jorge Sequeiros

  14. Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A

    Article • ASN NEURO, March 2016, SAGE Publications

    Jorge Sequeiros

  15. Illness representations

    Article • Psychology Health & Medicine, March 2016, Taylor & Francis

    Associate Professor, Hab, PhD, MSc (https://orcid.org/0000-0002-2198-6740; madinis@ufp.edu.pt) Maria Alzira Pimenta Dinis, Jorge Sequeiros

  16. Mid- and long-term anxiety levels associated with presymptomatic testing

    Article • Brazilian Journal of Psychiatry, February 2016, FapUNIFESP (SciELO)

    Associate Professor, Hab, PhD, MSc (https://orcid.org/0000-0002-2198-6740; madinis@ufp.edu.pt) Maria Alzira Pimenta Dinis, Jorge Sequeiros

  17. Depression as the Middle- and Long-Term Impact for Pre-Symptomatic Testing of Late-Onset Neurodegenerative Disorders

    Article • Temas em Psicologia, January 2016, Associacao Brasileira de Psicologia

    Associate Professor, Hab, PhD, MSc (https://orcid.org/0000-0002-2198-6740; madinis@ufp.edu.pt) Maria Alzira Pimenta Dinis, Jorge Sequeiros

  18. Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)

    Article • European Journal of Human Genetics, August 2015, Nature

    Jorge Sequeiros

  19. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

    Article • European Journal of Human Genetics, August 2015, Nature

    Jorge Sequeiros

  20. Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

    Article • Journal of Community Genetics, July 2015, Springer Science + Business Media

    Jorge Sequeiros

  21. Genetics and ethics in Latin America

    Article • Journal of Community Genetics, June 2015, Springer Science + Business Media

    Jorge Sequeiros

  22. Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

    Article • Journal of Community Genetics, June 2015, Springer Science + Business Media

    Jorge Sequeiros

  23. Subjects At-Risk for Genetic Diseases in Portugal

    Article • Journal of Genetic Counseling, May 2015, Springer Science + Business Media

    Associate Professor, Hab, PhD, MSc (https://orcid.org/0000-0002-2198-6740; madinis@ufp.edu.pt) Maria Alzira Pimenta Dinis, Jorge Sequeiros

  24. Genetic Counseling in Portugal: Education, Practice and a Developing Profession

    Article • Journal of Genetic Counseling, March 2015, Springer Science + Business Media

    Jorge Sequeiros

  25. Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

    Article • The American Journal of Human Genetics, March 2015, Elsevier

    Jorge Sequeiros, Dr. Rita Guerreiro

  26. Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study

    Article • European Journal of Human Genetics, February 2015, Nature

    Jorge Sequeiros

  27. Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

    Article • American Journal of Medical Genetics Part B Neuropsychiatric Genetics, February 2015, Wiley

    Jorge Sequeiros

  28. Chromosome substitution strain assessment of a Huntington’s disease modifier locus

    Article • Mammalian Genome, February 2015, Springer Science + Business Media

    Jorge Sequeiros

  29. Genetics Health Professionals’ Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools

    Article • Journal of Genetic Counseling, November 2014, Springer Science + Business Media

    Jorge Sequeiros

  30. Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

    Article • European Journal of Human Genetics, September 2014, Nature

    Pascal Borry, Jorge Sequeiros

  31. Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes

    Article • Human Genetics, July 2014, Springer Science + Business Media

    Jorge Sequeiros, Marie-Pierre Dubé

  32. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

    Article • Human Reproduction, July 2014, Oxford University Press (OUP)

    Jorge Sequeiros

  33. Machado–Joseph disease in a Nigerian family: mutational origin and review of the literature

    Article • European Journal of Human Genetics, April 2014, Nature

    Jorge Sequeiros

  34. Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley

    Article • Cephalalgia, March 2014, SAGE Publications

    Jorge Sequeiros

  35. Identification of Genetic Risk Factors for Maxillary Lateral Incisor Agenesis

    Article • Journal of Dental Research, February 2014, SAGE Publications

    Jorge Sequeiros

  36. Insufficient Referral for Genetic Counseling in the Management of Hereditary Haemochromatosis in Portugal: A Study of Perceptions of Health Professionals Requesting HFE Genotyping

    Article • Journal of Genetic Counseling, January 2014, Springer Science + Business Media

    Jorge Sequeiros

  37. [NO TITLE AVAILABLE]

    Article • Genetics and Molecular Biology, January 2014, FapUNIFESP (SciELO)

    Jorge Sequeiros

  38. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policyEuropean Society of Human Genetics and European Society of Human Reproduction and Embryology

    Article • European Journal of Human Genetics, November 2013, Nature

    Pascal Borry, Jorge Sequeiros

  39. The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal

    Article • Headache The Journal of Head and Face Pain, October 2013, Wiley

    Jorge Sequeiros

  40. Huntington disease and Huntington disease-like in a case series from Brazil

    Article • Clinical Genetics, October 2013, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  41. Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M

    Article • Journal of Neurology Neurosurgery & Psychiatry, September 2013, BMJ

    Jorge Sequeiros

  42. Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility

    Article • PLoS ONE, September 2013, PLOS

    Jorge Sequeiros

  43. Hereditary Ataxia and Spastic Paraplegia in Portugal

    Article • JAMA Neurology, June 2013, American Medical Association (AMA)

    Jorge Sequeiros

  44. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset

    Article • Neurogenetics, May 2013, Springer Science + Business Media

    Jorge Sequeiros

  45. Autosomal Dominant Spastic Paraplegias

    Article • JAMA Neurology, April 2013, American Medical Association (AMA)

    Jorge Sequeiros

  46. Recommendations for the predictive genetic test in Huntington's disease

    Article • Clinical Genetics, March 2013, Wiley

    Professor Aad Tibben, Jorge Sequeiros

  47. Cerebellar Ataxia, Hemiplegic Migraine, and Related Phenotypes Due to a CACNA1A Missense Mutation

    Article • JAMA Neurology, February 2013, American Medical Association (AMA)

    Jorge Sequeiros

  48. Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents’ Beliefs About the Cause of Their Children’s Deafness

    Article • Journal of Genetic Counseling, January 2013, Springer Science + Business Media

    Jorge Sequeiros

  49. What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand’s Perspective

    Article • Journal of Genetic Counseling, January 2013, Springer Science + Business Media

    Jorge Sequeiros

  50. Assessing Risk Factors for Migraine: Differences in Gender Transmission

    Article • PLoS ONE, November 2012, PLOS

    Jorge Sequeiros

  51. The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes

    Article • European Journal of Human Genetics, November 2012, Nature

    Jorge Sequeiros

  52. Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations

    Article • Human Mutation, August 2012, Wiley

    Jorge Sequeiros

  53. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington’s disease

    Article • Biochemical and Biophysical Research Communications, August 2012, Elsevier

    Jorge Sequeiros

  54. Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

    Article • Human Genetics, July 2012, Springer Science + Business Media

    Jorge Sequeiros

  55. The Challenges of Incorporating Genetic Testing in the Unified National Health System in Brazil

    Article • Genetic Testing and Molecular Biomarkers, July 2012, Mary Ann Liebert Inc

    Jorge Sequeiros, Débora Gusmão Melo

  56. Developing a policy for paediatric biobanks: principles for good practice

    Article • European Journal of Human Genetics, June 2012, Nature

    Professor Aad Tibben, Pascal Borry, Jorge Sequeiros

  57. Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala

    Article • Archives of Neurology, June 2012, American Medical Association (AMA)

    Jorge Sequeiros

  58. ‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

    Article • Brain, April 2012, Oxford University Press (OUP)

    Jorge Sequeiros

  59. Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3)

    Article • The Cerebellum, March 2012, Springer Science + Business Media

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  60. Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region

    Article • The American Journal of Human Genetics, March 2012, Elsevier

    Jorge Sequeiros

  61. The wide variation of definitions of genetic testing in international recommendations, guidelines and reports

    Article • Journal of Community Genetics, February 2012, Springer Science + Business Media

    Jorge Sequeiros

  62. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

    Article • Neurology, February 2012, Wolters Kluwer Health

    Jorge Sequeiros

  63. Definitions of genetic testing in European legal documents

    Article • Journal of Community Genetics, January 2012, Springer Science + Business Media

    Jorge Sequeiros

  64. Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

    Article • Genetics in Medicine, January 2012, Nature

    Jorge Sequeiros

  65. Quality Assessment of Genetic Counseling Process in the Context of Presymptomatic Testing for Late-Onset Disorders: A Thematic Analysis of Three Review Articles

    Article • Genetic Testing and Molecular Biomarkers, January 2012, Mary Ann Liebert Inc

    Jorge Sequeiros

  66. Epidemiology and population genetics of degenerative ataxias

    Article • January 2012, Elsevier

    Jorge Sequeiros

  67. Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions

    Article • Movement Disorders, December 2011, Wiley

    Jorge Sequeiros

  68. Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials

    Article • The Cerebellum, October 2011, Springer Science + Business Media

    Jorge Sequeiros

  69. Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis

    Article • Rheumatology International, August 2011, Springer Science + Business Media

    Jorge Sequeiros

  70. Y-STR haplotypes in three ethnic linguistic groups of Angola population

    Article • Forensic Science International Genetics, June 2011, Elsevier

    Jorge Sequeiros

  71. Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

    Article • European Journal of Human Genetics, April 2011, Nature

    Pascal Borry, Jorge Sequeiros

  72. FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

    Article • Behavioral and Brain Functions, January 2011, Springer Science + Business Media

    Dr Paula MV Jorge, Jorge Sequeiros

  73. Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

    Article • Brain and Development, January 2011, Elsevier

    Jorge Sequeiros

  74. Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?

    Article • Clinical Genetics, December 2010, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  75. A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients

    Article • European Journal of Neurology, October 2010, Wiley

    Jorge Sequeiros

  76. Genetic study of 15 STRs loci of Identifiler system in Angola population

    Article • Forensic Science International Genetics, October 2010, Elsevier

    Jorge Sequeiros

  77. A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

    Article • Nature Medicine, September 2010, Nature

    Jorge Sequeiros, Marie-Pierre Dubé

  78. Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population

    Article • Clinical Genetics, September 2010, Wiley

    Jorge Sequeiros

  79. Death Anxiety and Symbolic Immortality in Relatives at Risk for Familial Amyloid Polyneuropathy Type I (FAP I, ATTR V30M)

    Article • Journal of Genetic Counseling, August 2010, Springer Science + Business Media

    Jorge Sequeiros

  80. BDNF and CGRP interaction: Implications in migraine susceptibility

    Article • Cephalalgia, May 2010, SAGE Publications

    Jorge Sequeiros

  81. Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

    Article • European Journal of Human Genetics, May 2010, Nature

    Jorge Sequeiros

  82. Evidence of Syntaxin 1A Involvement in Migraine Susceptibility

    Article • Archives of Neurology, April 2010, American Medical Association (AMA)

    Jorge Sequeiros

  83. Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención temprana

    Article • Anales de Pediatría, March 2010, Elsevier

    Jorge Sequeiros

  84. Scope of definitions of genetic testing: evidence from a EuroGentest survey

    Article • Journal of Community Genetics, March 2010, Springer Science + Business Media

    Jorge Sequeiros

  85. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

    Article • European Journal of Human Genetics, February 2010, Nature

    Jorge Sequeiros

  86. EMQN Best Practice Guidelines for molecular genetic testing of SCAs

    Article • European Journal of Human Genetics, February 2010, Nature

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira, Professor Kyproula Christodoulou

  87. Massively parallel sequencing of ataxia genes after array-based enrichment

    Article • Human Mutation, February 2010, Wiley

    Jorge Sequeiros

  88. Ataxia and Progressive Encephalopathy in a 4-Year-Old Girl

    Article • Laboratory Medicine, January 2010, Oxford University Press (OUP)

    Jorge Sequeiros

  89. Genetic Screening in Europe

    Article • Public Health Genomics, January 2010, Karger Publishers

    Jorge Sequeiros

  90. Regulating Genetic Testing: The Relevance of Appropriate Definitions

    Article • January 2010, Springer Science + Business Media

    Jorge Sequeiros

  91. 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

    Article • Journal of Genetic Counseling, September 2009, Springer Science + Business Media

    Jorge Sequeiros

  92. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

    Article • Brain, August 2009, Oxford University Press (OUP)

    Jorge Sequeiros

  93. Erratum: Direct to consumer genetic tests

    Article • European Journal of Human Genetics, August 2009, Nature

    Jorge Sequeiros

  94. Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)

    Article • American Journal of Medical Genetics Part B Neuropsychiatric Genetics, August 2009, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  95. Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal

    Article • European Journal of Neurology, July 2009, Wiley

    Jorge Sequeiros

  96. Direct to consumer genetic tests

    Article • European Journal of Human Genetics, April 2009, Nature

    Jorge Sequeiros

  97. Genetic testing in asymptomatic minorsBackground considerations towards ESHG Recommendations

    Article • European Journal of Human Genetics, March 2009, Nature

    Pascal Borry, Jorge Sequeiros

  98. Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics

    Article • European Journal of Human Genetics, March 2009, Nature

    Jorge Sequeiros

  99. Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing

    Article • European Journal of Human Genetics, March 2009, Nature

    Jorge Sequeiros

  100. Familial Clustering of Migraine: Further Evidence From a Portuguese Study

    Article • Headache The Journal of Head and Face Pain, March 2009, Wiley

    Jorge Sequeiros

  101. First Mutation in the Voltage-Gated Nav1.1 Subunit Gene SCN1A with Co-Occurring Familial Hemiplegic Migraine and Epilepsy

    Article • Cephalalgia, March 2009, SAGE Publications

    Jorge Sequeiros

  102. Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)

    Article • PLoS ONE, February 2009, PLOS

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  103. NovelSPG3AandSPG4mutations in dominant spastic paraplegia families

    Article • Acta Neurologica Scandinavica, February 2009, Wiley

    Jorge Sequeiros

  104. Response to Tumas et al.

    Article • Clinical Genetics, February 2009, Wiley

    Jorge Sequeiros

  105. Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

    Article • Brain and Development, January 2009, Elsevier

    Jorge Sequeiros

  106. Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant

    Article • Neurobiology of Aging, November 2008, Elsevier

    Jorge Sequeiros

  107. Erratum: Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics

    Article • European Journal of Human Genetics, August 2008, Nature

    Jorge Sequeiros

  108. Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

    Article • Movement Disorders, May 2008, Wiley

    Jorge Sequeiros

  109. Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

    Article • European Journal of Human Genetics, May 2008, Nature

    Jorge Sequeiros

  110. Patenting and licensing in genetic testing

    Article • European Journal of Human Genetics, May 2008, Nature

    Jorge Sequeiros

  111. Patenting and licensing in genetic testing: ethical, legal and social issues

    Article • European Journal of Human Genetics, May 2008, Nature

    Jorge Sequeiros

  112. Atypical stereotypies and vocal tics in Rett syndrome: An illustrative case

    Article • Movement Disorders, March 2008, Wiley

    Jorge Sequeiros

  113. Huntington disease-like 2: the first patient with apparent European ancestry

    Article • Clinical Genetics, March 2008, Wiley

    Jorge Sequeiros

  114. Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias

    Article • European Journal of Human Genetics, February 2008, Nature

    Jorge Sequeiros

  115. What is ideal genetic counselling? A survey of current international guidelines

    Article • European Journal of Human Genetics, January 2008, Nature

    Jorge Sequeiros

  116. Cis-acting factors promoting the CAG intergenerational instability in Machado–Joseph disease

    Article • American Journal of Medical Genetics Part B Neuropsychiatric Genetics, January 2008, Wiley

    Jorge Sequeiros

  117. EuroGentest: DNA-Based Testing for Heritable Disorders in Europe

    Article • Public Health Genomics, January 2008, Karger Publishers

    Jorge Sequeiros

  118. Two novel functional mutations in the Na+,K+-ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes

    Article • Clinical Genetics, November 2007, Wiley

    Jorge Sequeiros

  119. NEDD8: A new ataxin-3 interactor

    Article • Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, November 2007, Elsevier

    Dr Sandra Macedo-Ribeiro, Jorge Sequeiros

  120. Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine

    Article • Journal of Human Genetics, October 2007, Nature

    Jorge Sequeiros

  121. Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

    Article • Archives of Neurology, October 2007, American Medical Association (AMA)

    Jorge Sequeiros

  122. Machado-Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population

    Article • Annals of Human Genetics, August 2007, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  123. Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations

    Article • Neurology, April 2007, Wolters Kluwer Health

    Jorge Sequeiros

  124. Psychological Follow-up of Presymptomatic Genetic Testing for Spinocerebellar Ataxia Type 2 (SCA2) in Cuba

    Article • Journal of Genetic Counseling, February 2007, Springer Science + Business Media

    Jorge Sequeiros

  125. Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3

    Article • The FASEB Journal, January 2007, Federation of American Societies For Experimental Biology (FASEB)

    Jorge Sequeiros

  126. Abnormal movements in Rett syndrome are present before the regression period: A case study

    Article • Movement Disorders, January 2007, Wiley

    Jorge Sequeiros

  127. Report of an International Survey of Molecular Genetic Testing Laboratories

    Article • Public Health Genomics, January 2007, Karger Publishers

    Jorge Sequeiros

  128. Depressive Symptoms in Machado-Joseph Disease (SCA3) Patients and Their Relatives

    Article • Community Genetics, January 2007, Karger Publishers

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  129. The interface between medically assisted reproduction and genetics: technical, social, ethical and legal issues*

    Article • ESHRE Monographs, October 2006, Oxford University Press (OUP)

    Jorge Sequeiros

  130. The Perceived Advantages and Disadvantages of Presymptomatic Testing for Machado-Joseph Disease: Development of a New Self-Response Inventory

    Article • Journal of Genetic Counseling, September 2006, Springer Science + Business Media

    Jorge Sequeiros

  131. 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

    Article • Journal of Human Genetics, July 2006, Nature

    Jorge Sequeiros

  132. Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

    Article • Clinical Genetics, July 2006, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  133. Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

    Article • Neurology, May 2006, Wolters Kluwer Health

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  134. A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus

    Article • European Journal of Human Genetics, May 2006, Nature

    Jorge Sequeiros

  135. The need for interaction between assisted reproduction technology and genetics: recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology

    Article • Human Reproduction, May 2006, Oxford University Press (OUP)

    Jorge Sequeiros

  136. The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

    Article • European Journal of Human Genetics, April 2006, Nature

    Jorge Sequeiros

  137. The need for interaction between assisted reproduction technology and genetics

    Article • European Journal of Human Genetics, April 2006, Nature

    Jorge Sequeiros

  138. Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I

    Article • Clinical Genetics, March 2006, Wiley

    Jorge Sequeiros

  139. The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation

    Article • Journal of Human Genetics, December 2005, Springer Science + Business Media

    Dr Laura Guimarães, Jorge Sequeiros

  140. In Memoriam

    Article • Clinical Genetics, December 2005, Wiley

    Jorge Sequeiros

  141. Haplotype diversity and somatic instability in normal and expanded SCA8 alleles

    Article • American Journal of Medical Genetics Part B Neuropsychiatric Genetics, November 2005, Wiley

    Jorge Sequeiros

  142. Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea

    Article • Neurogenetics, October 2005, Springer Science + Business Media

    Jorge Sequeiros

  143. A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14

    Article • Journal of Human Genetics, September 2005, Springer Science + Business Media

    Dr Sérgio Estrela Silva, Jorge Sequeiros

  144. Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement

    Article • Neurology, August 2005, Wolters Kluwer Health

    Jorge Sequeiros

  145. Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease Gene in Portugal

    Article • Human Heredity, January 2005, Karger Publishers

    Jorge Sequeiros

  146. Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado–Joseph disease (MJD) gene☆

    Article • Genomics, August 2004, Elsevier

    Jorge Sequeiros

  147. Frataxin overexpressing mice

    Article • FEBS Letters, July 2004, Wiley

    Professor Massimo Pandolfo, Jorge Sequeiros

  148. Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin

    Article • Multiple Sclerosis Journal, April 2004, SAGE Publications

    Jorge Sequeiros

  149. End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors

    Article • Amyloid, March 2004, Taylor & Francis

    Jorge Sequeiros, Isabel Fonseca

  150. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

    Article • Nature Genetics, February 2004, Nature

    Jorge Sequeiros

  151. 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

    Article • Clinical Genetics, December 2003, Wiley

    Jorge Sequeiros

  152. Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

    Article • European Journal of Human Genetics, October 2003, Springer Science + Business Media

    Dr Laura Guimarães, Jorge Sequeiros

  153. A whole genome screen for association with multiple sclerosis in Portuguese patients

    Article • Journal of Neuroimmunology, October 2003, Elsevier

    Jorge Sequeiros

  154. Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin

    Article • European Journal of Human Genetics, September 2003, Springer Science + Business Media

    Dr Laura Guimarães, Jorge Sequeiros

  155. Genetic interaction ofCTLA-4 with HLA-DR15 in multiple sclerosis patients

    Article • Annals of Neurology, June 2003, Wiley

    Jorge Sequeiros

  156. Phenotypes of Spinocerebellar Ataxia Type 6 and Familial Hemiplegic Migraine Caused by a Unique CACNA1A Missense Mutation in Patients From a Large Family

    Article • Archives of Neurology, April 2003, American Medical Association (AMA)

    Jorge Sequeiros

  157. Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy

    Article • Nephrology Dialysis Transplantation, March 2003, Oxford University Press (OUP)

    Jorge Sequeiros

  158. Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype

    Article • Acta Neurologica Scandinavica, March 2003, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  159. Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study

    Article • Acta Neurologica Scandinavica, March 2003, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  160. Inherited and acquired risk factors and their combined effects in pediatric stroke

    Article • Pediatric Neurology, February 2003, Elsevier

    Jorge Sequeiros

  161. Iron metabolism in mice with partial frataxin deficiency

    Article • The Cerebellum, January 2003, Springer Science + Business Media

    Jorge Sequeiros

  162. Frataxin knockin mouse

    Article • FEBS Letters, January 2002, Wiley

    Professor Massimo Pandolfo, Jorge Sequeiros

  163. A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations

    Article • Journal of Neurology, October 2001, Springer Science + Business Media

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  164. Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds

    Article • Acta Neurologica Scandinavica, October 2001, Wiley

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira

  165. Article • Nature Genetics, October 2001, Nature

    Jorge Sequeiros

  166. Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity

    Article • The American Journal of Human Genetics, February 2001, Elsevier

    Jorge Sequeiros

  167. High Germinal Instability of the (CTG)n at the SCA8 Locus of Both Expanded and Normal Alleles

    Article • The American Journal of Human Genetics, March 2000, Elsevier

    Jorge Sequeiros

  168. Prenatal diagnosis of Machado–Joseph disease by direct mutation analysis

    Article • Prenatal Diagnosis, June 1998, Wiley

    Jorge Sequeiros

  169. Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 portuguese ataxia families

    Article • American Journal of Medical Genetics, March 1998, Wiley

    Jorge Sequeiros

  170. Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

    Article • Human Genetics, September 1996, Springer Science + Business Media

    Jorge Sequeiros

  171. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and machado-joseph disease

    Article • Annals of Neurology, August 1996, Wiley

    Jorge Sequeiros

  172. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

    Article • Neurology, January 1996, Wolters Kluwer Health

    Jorge Sequeiros

  173. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal)

    Article • American Journal of Medical Genetics, December 1995, Wiley

    Jorge Sequeiros

  174. Gender equality in Machado–Joseph disease

    Article • Nature Genetics, October 1995, Nature

    Jorge Sequeiros

  175. Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds

    Article • Genomics, June 1994, Elsevier

    Jorge Sequeiros

  176. Machado-Joseph Disease Is Genetically Different from Holguin Dominant Ataxia (SCA2)

    Article • Genomics, September 1993, Elsevier

    Jorge Sequeiros

  177. Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

    Article • American Journal of Medical Genetics, June 1987, Wiley

    Jorge Sequeiros

  178. Machado-Joseph Disease in a Sicilian-American Family

    Article • Journal of Neurogenetics, January 1986, Taylor & Francis

    Jorge Sequeiros

  179. Infection and Prematurity as the Cause of Linear Skin Atrophy, Alopecia, Anonychia, and Tongue Lesions?

    Article • Archives of Dermatology, November 1985, American Medical Association (AMA)

    Jorge Sequeiros

  180. Linear skin atrophy, scarring alopecia, anonychia, and tongue lesion: A “new” syndrome?

    Article • American Journal of Medical Genetics, August 1985, Wiley

    Jorge Sequeiros

  181. Machado-Joseph Disease in an American-Italian Family

    Article • Journal of Neurogenetics, January 1984, Taylor & Francis

    Jorge Sequeiros