Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
1
TITLE: A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report Full Text
AUTHORS: Costa, Antonio; Pereira, Diogo; Malaquias, Maria Joao; Brandao, Ana Filipa; Oliveira, Jorge; Magalhaes, Marina;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 26, ISSUE: 2
AUTHORS: Costa, Antonio; Pereira, Diogo; Malaquias, Maria Joao; Brandao, Ana Filipa; Oliveira, Jorge; Magalhaes, Marina;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 26, ISSUE: 2
2
TITLE: Movement Disorders in Hereditary Cerebellar Ataxia
AUTHORS: Damasio, Joana; Costa, Sara; Moura, Joao; Santos, Mariana; Lemos, Carolina; Mendes, Alexandre; Oliveira, Jorge; Barros, Jose; Sequeiros, Jorge;
PUBLISHED: 2025, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE
AUTHORS: Damasio, Joana; Costa, Sara; Moura, Joao; Santos, Mariana; Lemos, Carolina; Mendes, Alexandre; Oliveira, Jorge; Barros, Jose; Sequeiros, Jorge;
PUBLISHED: 2025, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE
3
TITLE: MEDICALLY ACTIONABLE SECONDARY FINDINGS FROM WHOLE EXOME SEQUENCING (WES) DATA IN A SAMPLE OF 3,972 INDIVIDUALS Full Text
AUTHORS: Melo, Mafalda; Silva, Paulo; Ribeiro, Mariana; Valente, Susana; Alves, Filipe; Coutinho, Ana; Venancio, Margarida; Sequeiros, Jorge; Freixo, Joao Parente; Antunes, Diana; Oliveira, Jorge;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
AUTHORS: Melo, Mafalda; Silva, Paulo; Ribeiro, Mariana; Valente, Susana; Alves, Filipe; Coutinho, Ana; Venancio, Margarida; Sequeiros, Jorge; Freixo, Joao Parente; Antunes, Diana; Oliveira, Jorge;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
4
TITLE: Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals Full Text
AUTHORS: Mafalda Melo; Mariana Ribeiro; Paulo Filipe Silva; Susana Valente; Filipe Alves; Margarida Venâncio; Jorge Sequeiros; João Parente Freixo; Diana Antunes; Jorge Oliveira;
PUBLISHED: 2025, SOURCE: International Journal of Molecular Sciences, VOLUME: 26, ISSUE: 8
AUTHORS: Mafalda Melo; Mariana Ribeiro; Paulo Filipe Silva; Susana Valente; Filipe Alves; Margarida Venâncio; Jorge Sequeiros; João Parente Freixo; Diana Antunes; Jorge Oliveira;
PUBLISHED: 2025, SOURCE: International Journal of Molecular Sciences, VOLUME: 26, ISSUE: 8
5
TITLE: Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms Full Text
AUTHORS: Moura, Joao; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lenia; Lemos, Carolina; Barros, Jose; Sequeiros, Jorge; Damasio, Joana;
PUBLISHED: 2024, SOURCE: CEREBELLUM
AUTHORS: Moura, Joao; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lenia; Lemos, Carolina; Barros, Jose; Sequeiros, Jorge; Damasio, Joana;
PUBLISHED: 2024, SOURCE: CEREBELLUM
6
TITLE: Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms Full Text
AUTHORS: Moura, Joo; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lenia; Lemos, Carolina; Barros, Jose; Sequeiros, Jorge; Damasio, Joana;
PUBLISHED: 2024, SOURCE: CEREBELLUM, VOLUME: 23, ISSUE: 6
AUTHORS: Moura, Joo; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lenia; Lemos, Carolina; Barros, Jose; Sequeiros, Jorge; Damasio, Joana;
PUBLISHED: 2024, SOURCE: CEREBELLUM, VOLUME: 23, ISSUE: 6
7
TITLE: THE PHENOTYPIC SPECTRA OF POLYQ EXPANSION VERSUS NON-EXPANSION FORMS IN SPINOCEREBELLAR ATAXIAS Full Text
AUTHORS: Moura, J.; Oliveira, J.; Santos, M.; Costa, S.; Silva, L.; Lemos, C.; Barros, José; Sequeiros, J.; Damasio, J.;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 122
AUTHORS: Moura, J.; Oliveira, J.; Santos, M.; Costa, S.; Silva, L.; Lemos, C.; Barros, José; Sequeiros, J.; Damasio, J.;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 122
INDEXED IN: 
WOS
WOS8
TITLE: CHARACTERIZATION OF MOVEMENT DISORDERS IN A COHORT OF HEREDITARY CEREBELLAR ATAXIAS Full Text
AUTHORS: Costa, S.; Oliveira, J.; Moura, J.; Lemos, C.; Santos, M.; Barros, José; Sequeiros, J.; Damasio, J.;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 122
AUTHORS: Costa, S.; Oliveira, J.; Moura, J.; Lemos, C.; Santos, M.; Barros, José; Sequeiros, J.; Damasio, J.;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 122
INDEXED IN: WOS
WOS9
TITLE: Analysis of Regions of Homozygosity: Revisited Through New Bioinformatic Approaches
AUTHORS: Susana Valente; Mariana Ribeiro; Jennifer Schnur; Filipe Alves; Nuno Moniz; Dominik Seelow; João Parente Freixo; Paulo Filipe Silva; Jorge Oliveira;
PUBLISHED: 2024
AUTHORS: Susana Valente; Mariana Ribeiro; Jennifer Schnur; Filipe Alves; Nuno Moniz; Dominik Seelow; João Parente Freixo; Paulo Filipe Silva; Jorge Oliveira;
PUBLISHED: 2024
10
TITLE: A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case report
AUTHORS: Fernandes, Joana; Moura, Joa; Tarrio, Joao; Oliveira, Jorge; Lopes, Ana; Freixo, Joao Parente; Videira, Goncalo;
PUBLISHED: 2024, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 41
AUTHORS: Fernandes, Joana; Moura, Joa; Tarrio, Joao; Oliveira, Jorge; Lopes, Ana; Freixo, Joao Parente; Videira, Goncalo;
PUBLISHED: 2024, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 41
