Jorge Sequeiros
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View article: Addressing family communication in genetic counseling: A scoping review of process studies
Addressing family communication in genetic counseling: A scoping review of process studies Open
Process studies explore the content and dynamics established during genetic counseling (GC), allowing a greater understanding of what happens. No literature review has specifically examined how family communication of genetic information h…
View article: Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals Open
The application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with the primary reason of testing. Some of those might be of high clinical utility and comprise disease-caus…
View article: Medically Actionable Secondary Findings from Whole Exome Sequencing (WES) Data in a Sample of 3,972 Individuals
Medically Actionable Secondary Findings from Whole Exome Sequencing (WES) Data in a Sample of 3,972 Individuals Open
The application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with the primary reason of testing. Some of those might be of high clinical utility and comprise disease-caus…
View article: From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal
From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal Open
This study describes the experiences with the stigma attached to Machado-Joseph disease (MJD) in São Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, healthcare professional…
View article: The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy
The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy Open
View article: Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms
Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms Open
Spinocerebellar ataxias (SCA) are most frequently due to (CAG) n (coding for polyglutamine, polyQ) expansions and, less so, to expansion of other oligonucleotide repeats (non-polyQ) or other type of variants (non-repeat expansion SCA). In …
View article: “Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy Open
This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN). The work focuses on the developmental peculiarities …
View article: Health-related roles of older generations in families with inherited genetic conditions: a scoping review
Health-related roles of older generations in families with inherited genetic conditions: a scoping review Open
View article: From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal
From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal Open
This study describes the experiences with stigma attached to Machado-Joseph disease (MJD) in São Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, healthcare professionals an…
View article: Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms
Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms Open
Spinocerebellar ataxias (SCA) are most frequently due to (CAG)n (coding for polyglutamine, polyQ) expansions and, less so, to expansion of other oligonucleotide repeats (non-polyQ) or other type of variants (non-repeat expansion SCA). In t…
View article: “Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy
“Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy Open
This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN), specifying developmental peculiarities of their expe…
View article: Disclosure of genetic risk to family members: A qualitative study on healthcare professionals' perceived roles and responsibilities
Disclosure of genetic risk to family members: A qualitative study on healthcare professionals' perceived roles and responsibilities Open
This paper presents the perspectives of healthcare professionals regarding their roles and responsibilities in supporting patients with the disclosure of genetic risk to their families. The study involved eight focus groups and two individ…
View article: Modification of Huntington’s disease by short tandem repeats
Modification of Huntington’s disease by short tandem repeats Open
Expansions of glutamine-coding CAG trinucleotide repeats cause a number of neurodegenerative diseases, including Huntington’s disease and several of spinocerebellar ataxias. In general, age-at-onset of the polyglutamine diseases is inverse…
View article: Health-related Roles of Older Generations in Families with Inherited Genetic Conditions: A Scoping Review
Health-related Roles of Older Generations in Families with Inherited Genetic Conditions: A Scoping Review Open
Inherited genetic conditions are family diseases. They affect consanguineous relatives, in lineage for several generations, and impact the family dynamics. Older generations have been considered highly influential in the health management …
View article: Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage Open
View article: Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage Open
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG) n expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese families; and the Joseph lineag…
View article: Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias Open
View article: <scp>Early‐Onset</scp> and Severe Complex Hereditary Spastic Paraplegia Caused by <i>De Novo</i> Variants in <i>SPAST</i>
<span>Early‐Onset</span> and Severe Complex Hereditary Spastic Paraplegia Caused by <i>De Novo</i> Variants in <i>SPAST</i> Open
We read with interest the manuscript by Mo et al1 confirming that de novo variants in SPAST lead to a severe form of hereditary spastic paraplegia (HSP), with delayed motor milestones. Impelled by that work, we reevaluated our cohort of 26…
View article: Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation
Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation Open
Background Friedreich ataxia (FA) is the most common form of autosomal recessive (AR) ataxia. It is a rare disease, but carriers are frequent (1/100). Pseudodominance in FA has seldomly been reported; it may pose additional challenges for …
View article: Disclosing Genetic Risk to Family Members: A Qualitative Study on Healthcare Professionals’ Perceived Roles and Responsibilities
Disclosing Genetic Risk to Family Members: A Qualitative Study on Healthcare Professionals’ Perceived Roles and Responsibilities Open
View article: As associações de doenças raras em Portugal: Uma fonte importante de apoio psicossocial
As associações de doenças raras em Portugal: Uma fonte importante de apoio psicossocial Open
Este estudo teve como objetivo caracterizar as associações de pessoas com doenças raras, como uma importante fonte de apoio psicossocial. Foram realizadas entrevistas a 38 participantes de 23 associações e delegações de pessoas com doenças…
View article: Professor Paula Coutinho (1941-2022)
Professor Paula Coutinho (1941-2022) Open
Maria Paula Mourão do Amaral Coutinho ([Figure 1]) was born in Macieira de Cambra (Aveiro, Portugal) in 1941. Paula Coutinho, as she is internationally known, graduated with high grades in Medicine in 1966. Most of her neurology training a…
View article: Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal Open
View article: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal Open
This qualitative study describes how the restrictions imposed by the COVID-19 pandemic impacted on Machado-Joseph disease (MJD) patients and their care, in the island of São Miguel (the Azores, Portugal). In-person semi-structured intervie…
View article: Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia Open
Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequenci…
View article: Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing Open
View article: A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation
A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation Open
View article: Author response for "Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype"
Author response for "Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype" Open
View article: Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report
Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report Open
View article: A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study
A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study Open