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: 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
3
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
4
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
5
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
6
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
7
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
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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
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TITLE: Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
AUTHORS: Danique Beijer; Brent L Fogel; Sergi Beltran; Matt C Danzi; Andrea H Németh; Stephan Züchner; Matthis Synofzik; Astrid Adarmes; Saud Alhusaini; Mahmoud Reza Ashrafi; Luis Bataller; Enrico Bertini; Sylvia Boesch; Ronald Buijsen; Emanuel Cassou; Edwin Chan; Joana Damásio; Karina Donis; Ewelina Elert Dobkowska; Liena Elsayed; ...More
PUBLISHED: 2023, SOURCE: Cerebellum, VOLUME: 23, ISSUE: 2
AUTHORS: Danique Beijer; Brent L Fogel; Sergi Beltran; Matt C Danzi; Andrea H Németh; Stephan Züchner; Matthis Synofzik; Astrid Adarmes; Saud Alhusaini; Mahmoud Reza Ashrafi; Luis Bataller; Enrico Bertini; Sylvia Boesch; Ronald Buijsen; Emanuel Cassou; Edwin Chan; Joana Damásio; Karina Donis; Ewelina Elert Dobkowska; Liena Elsayed; ...More
PUBLISHED: 2023, SOURCE: Cerebellum, VOLUME: 23, ISSUE: 2
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TITLE: Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome Full Text
AUTHORS: Quental, R; Goncalves, D ; Rodrigues, E; Goncalves, ES; Oliveira, J; Freixo, JP; Leao, M;
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 188, ISSUE: 4
AUTHORS: Quental, R; Goncalves, D ; Rodrigues, E; Goncalves, ES; Oliveira, J; Freixo, JP; Leao, M;
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 188, ISSUE: 4
