Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
11
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
12
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
13
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
14
TITLE: Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
AUTHORS: Malaquias, Maria Joao; Braz, Luis; Silva, Claudia Santos; Damasio, Joana; Jorge, Andre; Lemos, Joao M.; Campos, Catarina F.; Garcez, Daniela; Oliveira Santos, Miguel; Velon, Ana G.; Caetano, Andre; Calejo, Margarida; Fernandes, Preza; Rego, Angela; Castro, Sandra; Sousa, Ana P.; Cardoso, Marcio Neves; Fernandes, Marco; Pinto, Miguel M.; Taipa, Ricardo; ...More
PUBLISHED: 2023, SOURCE: NEUROLOGY-CLINICAL PRACTICE, VOLUME: 13, ISSUE: 5
AUTHORS: Malaquias, Maria Joao; Braz, Luis; Silva, Claudia Santos; Damasio, Joana; Jorge, Andre; Lemos, Joao M.; Campos, Catarina F.; Garcez, Daniela; Oliveira Santos, Miguel; Velon, Ana G.; Caetano, Andre; Calejo, Margarida; Fernandes, Preza; Rego, Angela; Castro, Sandra; Sousa, Ana P.; Cardoso, Marcio Neves; Fernandes, Marco; Pinto, Miguel M.; Taipa, Ricardo; ...More
PUBLISHED: 2023, SOURCE: NEUROLOGY-CLINICAL PRACTICE, VOLUME: 13, ISSUE: 5
INDEXED IN: 
Scopus 
WOS
Scopus WOS IN MY: 
ORCID
ORCID15
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
16
TITLE: Multisystemic
RFC1
-Related Disorder. Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
AUTHORS: Maria João Malaquias; Luis Braz; Cláudia Santos Silva; Joana Damásio; André Jorge; João M Lemos; Catarina F Campos; Daniela Garcez; Miguel Oliveira Santos; Ana G Velon; André Caetano; Margarida Calejo; Preza Fernandes; Ângela Rego; Sandra Castro; Ana P Sousa; Marcio Neves Cardoso; Marco Fernandes; Miguel M Pinto; Ricardo Taipa; ...More
PUBLISHED: 2023, SOURCE: Neurology Clinical Practice, VOLUME: 13, ISSUE: 5
AUTHORS: Maria João Malaquias; Luis Braz; Cláudia Santos Silva; Joana Damásio; André Jorge; João M Lemos; Catarina F Campos; Daniela Garcez; Miguel Oliveira Santos; Ana G Velon; André Caetano; Margarida Calejo; Preza Fernandes; Ângela Rego; Sandra Castro; Ana P Sousa; Marcio Neves Cardoso; Marco Fernandes; Miguel M Pinto; Ricardo Taipa; ...More
PUBLISHED: 2023, SOURCE: Neurology Clinical Practice, VOLUME: 13, ISSUE: 5
17
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
18
TITLE: Alpha-Mannosidosis: A Novel Cause of Bilateral Thalami and Dentate Nuclei Hyperintensity
AUTHORS: Malaquias, MJ; Pinto, E; Oliveira, J; Freixo, JP; Caseiro, C; Magalhaes, M;
PUBLISHED: 2022, SOURCE: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, VOLUME: 49, ISSUE: 5
AUTHORS: Malaquias, MJ; Pinto, E; Oliveira, J; Freixo, JP; Caseiro, C; Magalhaes, M;
PUBLISHED: 2022, SOURCE: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, VOLUME: 49, ISSUE: 5
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TITLE: Childhood-Onset Writer's Cramp in Hereditary Spastic Paraplegia Type 15
AUTHORS: Moura, Joao; Sardoeira, Ana; Oliveira, Jorge; Mendes, Alexandre; Barros, José ; Sequeiros, Jorge; Barbot, Clara; Damasio, Joana;
PUBLISHED: 2022, SOURCE: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, VOLUME: 50, ISSUE: 3
AUTHORS: Moura, Joao; Sardoeira, Ana; Oliveira, Jorge; Mendes, Alexandre; Barros, José ; Sequeiros, Jorge; Barbot, Clara; Damasio, Joana;
PUBLISHED: 2022, SOURCE: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, VOLUME: 50, ISSUE: 3
20
TITLE: Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles Full Text
AUTHORS: Monteiro, Catarina; Goncalves, Ana ; Oliveira, Jorge; Salvado, Ramon; Tomaz, Jorge; Morais, Sara; Lima, Margarida; Santos, Rosario;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 17
AUTHORS: Monteiro, Catarina; Goncalves, Ana ; Oliveira, Jorge; Salvado, Ramon; Tomaz, Jorge; Morais, Sara; Lima, Margarida; Santos, Rosario;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 17
