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List of works by Jorge Sequeiros

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

scientific article

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

scientific article published on 16 April 2016

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

scientific article published in July 2017

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3

scientific article published on 05 February 2019

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

scientific article published on 19 May 2017

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

scientific article

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

A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine

scientific article (publication date: 2004)

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

scientific article

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

scientific article

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

scientific article published in October 2003

Abnormal movements in Rett syndrome are present before the regression period: a case study

scientific article published in November 2007

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

article

Analysis of (CAG)n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy

scientific article published in March 2018

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

scientific article published in March 1998

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

scientific article

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

article

Assessing risk factors for migraine: differences in gender transmission

scientific article

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

scientific article published on June 2012

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

scientific article published on 01 March 2008

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

scientific article published on 29 July 2009

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey

scientific article published on April 2013

BDNF and CGRP interaction: implications in migraine susceptibility.

scientific article published on 10 May 2010

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

scientific article

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

scientific article

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.

scientific article published in February 2013

Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease

scientific article published on 20 December 2018

Chromosome substitution strain assessment of a Huntington's disease modifier locus

scientific article

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

scientific article published in June 2008

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

scientific article

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

scientific article published on 01 March 2010

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

scientific article

Corino Andrade (1906-2005): a clinical geneticist before its own time

scientific article published in February 2006

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

article

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

scientific article published on 03 August 2010

Definitions of genetic testing in European legal documents ⬇️

scientific article published on January 26, 2012

Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives.

scientific article published in January 2007

Direct to consumer genetic tests

scientific article published on 29 April 2009

Direct to consumer genetic tests

scientific article published on 20 August 2009

Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal

scientific article published on 15 April 2017

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

scientific article published in January 2011

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

scientific article published on 24 February 2010

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

scientific article published on 01 March 2004

Epidemiology and population genetics of degenerative ataxias

scientific article published on January 1, 2012

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

scientific article published on July 2015

EuroGentest: DNA-based testing for heritable disorders in Europe.

scientific article published on 17 January 2008

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

scientific article

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

scientific article published on 27 February 2008

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

scientific article

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

scientific article published on 01 March 2003

Familial Clustering of Migraine: Further Evidence From a Portuguese Study

article

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

scientific article published on 20 December 2016

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

scientific article published on 19 March 2014

First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy

scientific article published in March 2009

Frataxin knockin mouse

scientific article published on 01 February 2002

Frataxin overexpressing mice.

scientific article

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

scientific article published on 01 January 1996

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

scientific article published on 18 January 2007

Gender equality in Machado–Joseph disease

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

scientific article published on 3 March 2015

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

article

Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

scientific article published on March 2014

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

scientific article published in December 1995

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

scientific article

Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients

scientific article (publication date: July 2003)

Genetic modifiers of age-at-onset in polyglutamine diseases

article

Genetic screening in Europe.

scientific article

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

scientific article published on 15 April 2010

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

scientific article

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

scientific article

Genetics and ethics in Latin America.

scientific article published on 9 June 2015

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

scientific article published on 23 March 2020

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

scientific article published on 4 June 2015

Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene

scientific article

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

scientific article published in April 2004

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

scientific article published on 05 February 2015

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles

scientific article published on 01 November 2005

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

scientific article

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

scientific article

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

scientific article published on 12 August 2015

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

scientific article published on 17 October 2013

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

scientific article published on 12 March 2008

Identification of Genetic Risk Factors for Maxillary Lateral Incisor Agenesis

scientific article published on 19 February 2014

Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases.

scientific article

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

scientific article published on 01 November 1985

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

scientific article published in February 2003

Insufficient referral for genetic counseling in the management of hereditary haemochromatosis in portugal: a study of perceptions of health professionals requesting HFE genotyping

scientific article published on 8 January 2014

Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibility

scientific article

Intergenerational instability in Huntington disease: extreme repeat changes among 134 transmissions

scientific article

Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis

article published in 2011

Iron metabolism in mice with partial frataxin deficiency

scientific article published in January 2003

Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins?

article

Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients

scientific article published on 01 February 2019

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

scientific article

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

scientific article published on 19 October 2017

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

article

Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases

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

scientific article published on 07 August 2007

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

article

Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature

scientific article

Machado-Joseph disease in a Sicilian-American family

scientific article published in May 1986

Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together

scientific article published on 27 April 2020

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

scientific article published on 23 August 2017

Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's disease, Machado-Joseph disease, and familial amyloid polyneuropathy

scientific article published on 5 February 2016

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

scientific article

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia

scientific article published on 14 March 2022

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

scientific article published in November 2003

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

scientific article published on 21 May 2007

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

article

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala

scientific article

NEDD8: A new ataxin-3 interactor

scientific article published on 24 August 2007

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

scientific article

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

scientific article published on 26 January 2013

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

scientific article published on 12 October 2005

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype

scientific article published on 23 April 2020

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

scientific article

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

article

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

scientific article

Parkin truncating variants result in a loss-of-function phenotype

scientific article published on 06 November 2019

Paula Coutinho's outstanding contribution to the definition of Machado-Joseph disease

scientific article published in October 2017

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family

scientific article (publication date: April 2003)

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

scientific article

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

scientific article

Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact.

scientific article

Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis

scientific article

Prenatal diagnosis of Machado–Joseph disease by direct mutation analysis

scholarly article by Jorge Sequeiros et al published June 1998 in Prenatal Diagnosis

Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba.

scientific article published on 23 February 2007

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

scientific article published on 05 August 2011

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

scientific article

Rare Neurodegenerative Diseases: Clinical and Genetic Update.

scientific article published in January 2017

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine

article

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

scientific article published in May 2006

Report of an international survey of molecular genetic testing laboratories

scientific article published in January 2007

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

scientific article published on 8 February 2010

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

scientific article published on 01 October 2009

Scope of definitions of genetic testing: evidence from a EuroGentest survey ⬇️

scientific article published on March 16, 2010

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

scientific article published on 01 March 2003

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

scientific article

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

article

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease

scientific article published in August 1996

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

scientific article published on 31 May 2017

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

article

Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations

scientific article published in August 2012

Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations

scientific article published in April 2007

Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations

scientific article published on 19 May 2015

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

scientific article

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

scientific article published on 22 December 2005

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

article

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

scientific article published in May 2006

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

article

The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.

scientific article

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

scientific article published on February 25, 2012

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

scientific article published on 07 May 2009

Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal

scientific article published on 30 April 2019

Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.

scientific article published on 19 November 2007

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

scientific article published on 15 February 2017

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

scientific article published on March 2003

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

scientific article published on 19 August 2015

What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective.

scientific article published on 7 January 2013

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

scientific article (publication date: June 2011)

Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor

scientific article published on 12 June 2019

and modify age-at-onset in familial amyloid polyneuropathy patients

scientific article published on 07 March 2019

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy

scientific article published on 10 October 2017

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