Jorge Sequeiros
Universidade do Porto
H-index: 58
Europe-Portugal
Top articles of Jorge Sequeiros
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Disclosure of genetic risk to family members: A qualitative study on healthcare professionals' perceived roles and responsibilities | European Journal of Medical Genetics | Álvaro Mendes Milena Paneque Jorge Sequeiros | 2024/2/29 |
Psychomotor delay: Expanding the neurological phenotype of ATP13A2-related disorders | Parkinsonism & Related Disorders | L Silva A Sardoeira E Brandão M Rocha S Pina | 2024/5/1 |
Modification of Huntington's disease by short tandem repeats | Brain communications | Eun Pyo Hong Eliana Marisa Ramos N Ahmad Aziz Thomas H Massey Branduff McAllister | 2024/1/23 |
Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms | João Moura Jorge Oliveira Mariana Santos Sara Costa Lénia Silva | 2024/4/19 | |
Characterization of movement disorders in a cohort of hereditary cerebellar ataxias | Parkinsonism & Related Disorders | S Costa J Oliveira J Moura C Lemos M Santos | 2024/5/1 |
“Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy | José D Pereira Catarina Costa Andreia Santos Marina S Lemos Jorge Sequeiros | 2024/4/8 | |
The phenotypic spectra of polyQ expansion versus non-expansion forms in spinocerebellar ataxias | Parkinsonism & Related Disorders | J Moura J Oliveira M Santos S Costa L Silva | 2024/5/1 |
In Memoriam: Paula Coutinho (1941–2022), a pioneer in Neurogenetics | Journal of the Neurological Sciences | Jorge Sequeiros José Leal Loureiro José Barros | 2023/10/15 |
Communicating genetic information in families with late-onset neurological diseases: A scoping review | Sofia Fontoura Dias Maria Barbosa Filipa Júlio Milena Paneque Jorge Sequeiros | 2023/9/21 | |
Childhood-Onset Writer’s Cramp in Hereditary Spastic Paraplegia Type 15 | Canadian Journal of Neurological Sciences | João Moura Ana Sardoeira Jorge Oliveira Alexandre Mendes José Barros | 2023/5 |
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage | Human Genetics | Sandra Martins Ashraf Yahia Inês PD Costa Hassab E Siddig Rayan Abubaker | 2023/12 |
Living with Transthyretin-Related Familial Amyloid Polyneuropathy—TTR-FAP: Generativity, Satisfaction with Life and Health Perception in Older Affected Individuals | Journal of Adult Development | Carla Roma Oliveira Liliana Sousa Pedro Sa-Couto Jorge Sequeiros Álvaro Mendes | 2023/9/15 |
Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation | Maria João Malaquias Jorge Oliveira Manuela Santos Ana Filipa Brandao Ana Sardoeira | 2023/4 | |
Health-related Roles of Older Generations in Families with Inherited Genetic Conditions: A Scoping Review | Carla Roma Oliveira Catarina Seidi Jorge Sequeiros Liliana Sousa Álvaro Mendes | 2023/11/30 | |
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias | The American Journal of Human Genetics | Paulina Cunha Emilien Petit Marie Coutelier Giulia Coarelli Caterina Mariotti | 2023/7/6 |
Reply to: Early Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST | Movement disorders: official journal of the Movement Disorder Society | Afshin Saffari Darius Ebrahimi-Fakhari | 2023/5 |
What process studies in genetic counseling can teach us about communication of genetic information to family members: a scoping review | Maria Pinto Bastos Henriques Barbosa Sofia Fontoura Dias Filipa Júlio Jorge Sequeiros Liliana Sousa | 2023/11/18 | |
Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal | Journal of community genetics | Daniela Couto Liliana Sousa Jorge Sequeiros Manuela Lima Álvaro Mendes | 2022/8 |
From older to younger generations: Intergenerational transmission of health-related roles in families with Huntington's disease | Journal of Aging Studies | Carla Roma Oliveira Álvaro Mendes Jorge Sequeiros Liliana Sousa | 2022/6/1 |
Genetic analysis in a large cohort of patients with hereditary spastic paraplegia: diagnostic challenges | Sara Morais Ana Filipa Brandão Ana Lopes Rita Bastos-Ferreira Susana Sousa | 2022/4/1 |
