Jorge Manuel Santos Marques Oliveira


AuthID: R-00H-JCF

Publications Requiring Validation

11
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
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
12
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
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
13
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
INDEXED IN: Scopus CrossRef
IN MY: ORCID
14
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; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID
15
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
16
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; Lopes, Ana M.; Oliveira, Jorge; Magalhaes, Marina; ...More
PUBLISHED: 2023, SOURCE: NEUROLOGY-CLINICAL PRACTICE, VOLUME: 13, ISSUE: 5
INDEXED IN: Scopus WOS
IN MY: ORCID
17
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; Carmen Espinos; Haşmet Hanağasi; Morteza Heidari; Wolfgang Nachbauer; Jorge Oliveira; Puneet Opal; Coro Paisan Ruiz; Hélène Puccio; Francesco Saccà; Maria Luiza Saraiva Pereira; Thorsten Schmidt; Rebecca Schüle; Giovanni Stevanin; Carlo Wilke; Grace Yoon; Neta Zach; Ginevra Zanni; ...More
PUBLISHED: 2023, SOURCE: Cerebellum, VOLUME: 23, ISSUE: 2
INDEXED IN: Scopus CrossRef: 8
IN MY: ORCID
18
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; Ana M Lopes; Jorge Oliveira; Marina Magalhães; ...More
PUBLISHED: 2023, SOURCE: Neurology Clinical Practice, VOLUME: 13, ISSUE: 5
INDEXED IN: CrossRef: 5
IN MY: ORCID
19
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
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
20
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
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
Page 2 of 10. Total results: 93.

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