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Jorge Sequeiros

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Portugal

Research Interests

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Professors in Portugal Professors in Medical Science Medical Science professors in Portugal

Recent Grants

Grant: Close

Clinical and Genetic study of primary headaches and the most relevant associated comorbidities

Open Date: 2018-07-01

Close Date: 2021-06-01

Grant: Close

GenomePT Portuguese Roadmap of Research Infrastructures

Open Date: 2017-01-01

Close Date: 2020-01-01

Grant: Close

Neurosciences & Neurologic Disease Research Initiative

Open Date: 2017-01-01

Close Date: 2019-01-01

Grant: Close

Exome sequencing of discordant and concordant sib-pairs with spinocerebellar ataxia type 3 (SCA3/MJD): a tool to identify new modifiers and study altered molecular pathways

Open Date: 2016-01-01

Close Date: 2019-01-01

Grant: Close

EXOS3 (Whole-exome sequencing of discordant and concordant affected sib pairs in SCA3: a tool to identify novel modifier genes and highlight disrupted molecular pathways)

Open Date: 2015-01-01

Close Date: 2018-01-01

Articles (14)

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2025

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2021

Collaborators (15)

Ana do Carmo Azevedo

Centro Hospitalar de Entre o Douro e Vouga EPE

PORTUGAL

Jorge Sequeiros

Research Interests

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Recent Grants

Articles (14)

Addressing family communication in genetic counseling: A scoping review of process studies

Communicating Genetic Information in Families with Inherited Late-Onset Neurodegenerative Diseases: A Scoping Review

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals

“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy

Living with Transthyretin-Related Familial Amyloid Polyneuropathy—TTR-FAP: Generativity, Satisfaction with Life and Health Perception in Older Affected Individuals

<scp>Early‐Onset</scp> and Severe Complex Hereditary Spastic Paraplegia Caused by <i>De Novo</i> Variants in <i>SPAST</i>

Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia

Professor Paula Coutinho (1941-2022)

A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study

Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis

Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late‐onset neurological diseases

Role of older generations in the family’s adjustment to Huntington disease

Congenital ataxia due to novel variant in ATP8A2

Collaborators (15)

Ana do Carmo Azevedo

Pedro Sá-Couto

Daniela Vilas Boas da Silva Campos

João Vasconcelos

Carla Oliveira

Sara Cavaco

Manuela Lima

Paulo Silva

Álvaro Mendes

Liliana Sousa

Alda Sousa

Conceição Bettencourt

Angus Clarke

Carolina Lemos

Joana Damásio

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