Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
1
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
2
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
WOS3
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
WOS4
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
5
TITLE: Pseudodominance in Friedreich Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation
AUTHORS: Malaquias, Maria Joao; Oliveira, Jorge; Santos, Manuela; Brandao, Ana Filipa; Sardoeira, Ana; Sequeiros, Jorge; Barros, José; Damasio, Joana;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 10, ISSUE: 4
AUTHORS: Malaquias, Maria Joao; Oliveira, Jorge; Santos, Manuela; Brandao, Ana Filipa; Sardoeira, Ana; Sequeiros, Jorge; Barros, José; Damasio, Joana;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 10, ISSUE: 4
6
TITLE: Lower Facial Dystonia: An Unexpected Presentation Associated with Pathogenic RFC1 Repeat Expansions
AUTHORS: Fonte, Joana; Machado, Celia; Oliveira, Jorge; Magalhaes, Marina;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 10, ISSUE: 7
AUTHORS: Fonte, Joana; Machado, Celia; Oliveira, Jorge; Magalhaes, Marina;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 10, ISSUE: 7
7
TITLE: Diagnosis across a cohort of atypical atypical and complex parkinsonism
AUTHORS: Malaquias, Maria Joao; Igreja, Liliana; Nogueira, Celia; Pereira, Cristina; Vilarinho, Laura; Quelhas, Dulce; Freixo, Joao Parente; Oliveira, Jorge; Magalha, Marina;
PUBLISHED: 2023, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 111
AUTHORS: Malaquias, Maria Joao; Igreja, Liliana; Nogueira, Celia; Pereira, Cristina; Vilarinho, Laura; Quelhas, Dulce; Freixo, Joao Parente; Oliveira, Jorge; Magalha, Marina;
PUBLISHED: 2023, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 111
8
TITLE: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST Full Text
AUTHORS: Damásio, J; Barbot, C; Felgueiras, R; Brandão, AF; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2023, SOURCE: Movement disorders : official journal of the Movement Disorder Society, VOLUME: 38, ISSUE: 5
AUTHORS: Damásio, J; Barbot, C; Felgueiras, R; Brandão, AF; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2023, SOURCE: Movement disorders : official journal of the Movement Disorder Society, VOLUME: 38, ISSUE: 5
9
TITLE: Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
AUTHORS: Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 7
AUTHORS: Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 7
10
TITLE: Familial occipital lobe epilepsy associated with GABAA receptor variants
AUTHORS: Fonte, Joana; Videira, Goncalo; Chorao, Rui; Freitas, Joel; Carrilho, Ines; Freixo, Joao Parente; Oliveira, Jorge; Chaves, Joao;
PUBLISHED: 2023, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 112
AUTHORS: Fonte, Joana; Videira, Goncalo; Chorao, Rui; Freitas, Joel; Carrilho, Ines; Freixo, Joao Parente; Oliveira, Jorge; Chaves, Joao;
PUBLISHED: 2023, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 112
