Patricia Espinheira Sá Maciel
AuthID: R-000-E14
11
TITLE: In vivomolecular signatures of cerebellar pathology in spinocerebellar ataxia type 3
AUTHORS: Maria do Carmo Costa; Maria Radzwion; Hayley S McLoughlin; Naila S Ashraf; Svetlana Fischer; Vikram G Shakkottai; Patrícia Maciel; Henry L Paulson; Gülin Öz;
PUBLISHED: 2020
AUTHORS: Maria do Carmo Costa; Maria Radzwion; Hayley S McLoughlin; Naila S Ashraf; Svetlana Fischer; Vikram G Shakkottai; Patrícia Maciel; Henry L Paulson; Gülin Öz;
PUBLISHED: 2020
12
TITLE: Regulation of neuronal mRNA splicing and Tau isoform ratio by ATXN3 through deubiquitylation of splicing factors
AUTHORS: Andreia Neves-Carvalho; Sara Duarte-Silva; Joana M Silva; Liliana Meireles-Costa; Daniela Monteiro-Fernandes; Joana S Correia; Beatriz Rodrigues; Sasja Heetveld; Bruno Almeida; Natalia Savytska; Jorge Diogo Da Silva; Andreia Teixeira-Castro; Ioannis Sotiropoulos; Ana Luísa Carvalho; Peter Heutink; Ka Wan Li; Patrícia Maciel;
PUBLISHED: 2019
AUTHORS: Andreia Neves-Carvalho; Sara Duarte-Silva; Joana M Silva; Liliana Meireles-Costa; Daniela Monteiro-Fernandes; Joana S Correia; Beatriz Rodrigues; Sasja Heetveld; Bruno Almeida; Natalia Savytska; Jorge Diogo Da Silva; Andreia Teixeira-Castro; Ioannis Sotiropoulos; Ana Luísa Carvalho; Peter Heutink; Ka Wan Li; Patrícia Maciel;
PUBLISHED: 2019
13
TITLE: Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
AUTHORS: Kyle K Satterstrom; Jack A Kosmicki; Jiebiao Wang; Michael S Breen; Silvia De Rubeis; Joon-Yong An; Minshi Peng; Ryan L Collins; Jakob Grove; Lambertus Klei; Christine Stevens; Jennifer Reichert; Maureen S Mulhern; Mykyta Artomov; Sherif Gerges; Brooke Sheppard; Xinyi Xu; Aparna Bhaduri; Utku Norman; Harrison Brand; ...More
PUBLISHED: 2019, SOURCE: SSRN Electronic Journal
AUTHORS: Kyle K Satterstrom; Jack A Kosmicki; Jiebiao Wang; Michael S Breen; Silvia De Rubeis; Joon-Yong An; Minshi Peng; Ryan L Collins; Jakob Grove; Lambertus Klei; Christine Stevens; Jennifer Reichert; Maureen S Mulhern; Mykyta Artomov; Sherif Gerges; Brooke Sheppard; Xinyi Xu; Aparna Bhaduri; Utku Norman; Harrison Brand; ...More
PUBLISHED: 2019, SOURCE: SSRN Electronic Journal
14
TITLE: Pre-Clinical Assessment of Mesenchymal Stem Cell-Based Therapies in Spinocerebellar Ataxia Type 3
AUTHORS: Andreia Neves-Carvalho; Bárbara Mendes-Pinheiro; Joana Sofia Correia; Joel Pires; Fábio Gabriel Teixeira; Nuno Silva ; Rui Lima; Susana Monteiro; Sara Duarte-Silva; António J Salgado; Patrícia Maciel;
PUBLISHED: 2019, SOURCE: SSRN Electronic Journal
AUTHORS: Andreia Neves-Carvalho; Bárbara Mendes-Pinheiro; Joana Sofia Correia; Joel Pires; Fábio Gabriel Teixeira; Nuno Silva ; Rui Lima; Susana Monteiro; Sara Duarte-Silva; António J Salgado; Patrícia Maciel;
PUBLISHED: 2019, SOURCE: SSRN Electronic Journal
15
TITLE: Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
AUTHORS: Kyle K Satterstrom; Jack A Kosmicki; Jiebiao Wang; Michael S Breen; Silvia De Rubeis; Joon-Yong An; Minshi Peng; Ryan Collins; Jakob Grove; Lambertus Klei; Christine Stevens; Jennifer Reichert; Maureen S Mulhern; Mykyta Artomov; Sherif Gerges; Brooke Sheppard; Xinyi Xu; Aparna Bhaduri; Utku Norman; Harrison Brand; ...More
PUBLISHED: 2018
AUTHORS: Kyle K Satterstrom; Jack A Kosmicki; Jiebiao Wang; Michael S Breen; Silvia De Rubeis; Joon-Yong An; Minshi Peng; Ryan Collins; Jakob Grove; Lambertus Klei; Christine Stevens; Jennifer Reichert; Maureen S Mulhern; Mykyta Artomov; Sherif Gerges; Brooke Sheppard; Xinyi Xu; Aparna Bhaduri; Utku Norman; Harrison Brand; ...More
PUBLISHED: 2018
16
TITLE: Identification of rare de novo epigenetic variations in congenital disorders
AUTHORS: Mafalda Barbosa; Ricky S Joshi; Paras Garg; Alejandro Martin-Trujillo; Nihir Patel; Bharati Jadhav; Corey T Watson; William Gibson; Kelsey Chetnik; Chloe Tessereau; Hui Mei; Silvia De Rubeis; Jennifer Reichert; Fatima Lopes; Lisenka E.L.M Vissers; Tjitske Kleefstra; Dorothy E Grice; Lisa Edelmann; Gabriela Soares; Patricia Maciel; ...More
PUBLISHED: 2018
AUTHORS: Mafalda Barbosa; Ricky S Joshi; Paras Garg; Alejandro Martin-Trujillo; Nihir Patel; Bharati Jadhav; Corey T Watson; William Gibson; Kelsey Chetnik; Chloe Tessereau; Hui Mei; Silvia De Rubeis; Jennifer Reichert; Fatima Lopes; Lisenka E.L.M Vissers; Tjitske Kleefstra; Dorothy E Grice; Lisa Edelmann; Gabriela Soares; Patricia Maciel; ...More
PUBLISHED: 2018
17
TITLE: Revalorisation of rapeseed pomace (RSP): A study into antioxidant and DNA protective properties (in vitro) of a RSP extract and its effects on neurodegenerative disease C-elegans models Full Text
AUTHORS: Pohl, F; Goua, M; Bermano, G; Russell, WR; Scobbie, L; Maciel, P; Teixeira Castro, A; Lin, PKT;
PUBLISHED: 2017, SOURCE: Joint Conference of the 5th International Conference on the Mechanism of Action of Nutraceuticals (ICMAN) / Meeting of the Natural-Products-Section of the International-Union-of-Basic-and-Clinical-Pharmacology (IUPHAR) in BIOCHEMICAL PHARMACOLOGY, VOLUME: 139
AUTHORS: Pohl, F; Goua, M; Bermano, G; Russell, WR; Scobbie, L; Maciel, P; Teixeira Castro, A; Lin, PKT;
PUBLISHED: 2017, SOURCE: Joint Conference of the 5th International Conference on the Mechanism of Action of Nutraceuticals (ICMAN) / Meeting of the Natural-Products-Section of the International-Union-of-Basic-and-Clinical-Pharmacology (IUPHAR) in BIOCHEMICAL PHARMACOLOGY, VOLUME: 139
18
TITLE: Epimutations as a novel cause of congenital disorders Full Text
AUTHORS: Mafalda Barbosa; Ricky Joshi; Paras Garg; Nihir Patel; William Gibson; Corey Watson; Alejandro Martin; Fatima Lopes; Lisenka Vissers; Silvia de Rubeis; Jennifer Reichert; Patricia Maciel; Tjitske Kleefstra; Han G Brunner; Joseph D Buxbaum; Bruce Gelb; Andrew J Sharp;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10
AUTHORS: Mafalda Barbosa; Ricky Joshi; Paras Garg; Nihir Patel; William Gibson; Corey Watson; Alejandro Martin; Fatima Lopes; Lisenka Vissers; Silvia de Rubeis; Jennifer Reichert; Patricia Maciel; Tjitske Kleefstra; Han G Brunner; Joseph D Buxbaum; Bruce Gelb; Andrew J Sharp;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10
INDEXED IN: 
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ORCID
ORCID19
TITLE: Targeting the Intracellular Localization of Ataxin-3 as Novel Treatment Strategy for Spinocerebellar Ataxia Type 3 Full Text
AUTHORS: Schmidt, T; Wang, Z; Sowa, A; Schmidt, J; Anders, M; Martins, MI; de Castro, A; Weishäupl, D; Weber, J; Tricoire, H; Maciel, P; Riess, O;
PUBLISHED: 2017, SOURCE: MOVEMENT DISORDERS, VOLUME: 32
AUTHORS: Schmidt, T; Wang, Z; Sowa, A; Schmidt, J; Anders, M; Martins, MI; de Castro, A; Weishäupl, D; Weber, J; Tricoire, H; Maciel, P; Riess, O;
PUBLISHED: 2017, SOURCE: MOVEMENT DISORDERS, VOLUME: 32
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID20
TITLE: Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
AUTHORS: Fatima Torres; Mafalda Barbosa; Patricia Maciel;
PUBLISHED: 2016, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 53, ISSUE: 2
AUTHORS: Fatima Torres; Mafalda Barbosa; Patricia Maciel;
PUBLISHED: 2016, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 53, ISSUE: 2
