Patricia Espinheira Sá Maciel
AuthID: R-000-E14
61
TITLE: Pharmacological Therapies for Machado-Joseph Disease
AUTHORS: Duarte Silva, S; Maciel, P;
PUBLISHED: 2018, SOURCE: POLYGLUTAMINE DISORDERS, VOLUME: 1049
AUTHORS: Duarte Silva, S; Maciel, P;
PUBLISHED: 2018, SOURCE: POLYGLUTAMINE DISORDERS, VOLUME: 1049
62
TITLE: Tauroursodeoxycholic Acid Improves Motor Symptoms in a Mouse Model of Parkinson's Disease Full Text
AUTHORS: Rosa, AI; Duarte Silva, S; Silva Fernandes, A; Nunes, MJ; Carvalho, AN; Rodrigues, E; Gama, MJ; Rodrigues, CMP; Maciel, P; Castro Caldas, M;
PUBLISHED: 2018, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 55, ISSUE: 12
AUTHORS: Rosa, AI; Duarte Silva, S; Silva Fernandes, A; Nunes, MJ; Carvalho, AN; Rodrigues, E; Gama, MJ; Rodrigues, CMP; Maciel, P; Castro Caldas, M;
PUBLISHED: 2018, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 55, ISSUE: 12
63
TITLE: Identification of rare de novo epigenetic variations in congenital disorders
AUTHORS: Barbosa, M; Joshi, RS; Garg, P; Martin Trujillo, A; Patel, N; Jadhav, B; Watson, CT; Gibson, W; Chetnik, K; Tessereau, C; Mei, H; De Rubeis, S; Reichert, J; Lopes, F; Vissers, LELM; Kleefstra, T; Grice, DE; Edelmann, L; Soares, G; Maciel, P; ...More
PUBLISHED: 2018, SOURCE: NATURE COMMUNICATIONS, VOLUME: 9, ISSUE: 1
AUTHORS: Barbosa, M; Joshi, RS; Garg, P; Martin Trujillo, A; Patel, N; Jadhav, B; Watson, CT; Gibson, W; Chetnik, K; Tessereau, C; Mei, H; De Rubeis, S; Reichert, J; Lopes, F; Vissers, LELM; Kleefstra, T; Grice, DE; Edelmann, L; Soares, G; Maciel, P; ...More
PUBLISHED: 2018, SOURCE: NATURE COMMUNICATIONS, VOLUME: 9, ISSUE: 1
64
TITLE: Neuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3 Full Text
AUTHORS: Duarte Silva, S; Neves Carvalho, A; Soares Cunha, C; Silva, JM; Teixeira Castro, A; Vieira, R; Silva Fernandes, A; Maciel, P;
PUBLISHED: 2018, SOURCE: MOVEMENT DISORDERS, VOLUME: 33, ISSUE: 5
AUTHORS: Duarte Silva, S; Neves Carvalho, A; Soares Cunha, C; Silva, JM; Teixeira Castro, A; Vieira, R; Silva Fernandes, A; Maciel, P;
PUBLISHED: 2018, SOURCE: MOVEMENT DISORDERS, VOLUME: 33, ISSUE: 5
65
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
66
TITLE: Further delineation of a novel 2q11.1q11.2 micro-duplication syndrome Full Text
AUTHORS: Azzarello Burri, S; Joset, P; Andrieux, J; Lopes, F; Palmer, E; Czeschik, J; Demeer, B; Duque, F; Kuechler, A; Maciel, P; Hackenberg, A; Oneda, B; Rauch, A;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 26
AUTHORS: Azzarello Burri, S; Joset, P; Andrieux, J; Lopes, F; Palmer, E; Czeschik, J; Demeer, B; Duque, F; Kuechler, A; Maciel, P; Hackenberg, A; Oneda, B; Rauch, A;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 26
INDEXED IN: 
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ORCID67
TITLE: Altered striatal endocannabinoid signaling in a transgenic mouse model of spinocerebellar ataxia type-3
AUTHORS: Rodriguez Cueto, C; Hernandez Galvez, M; Hillard, CJ; Maciel, P; Valdeolivas, S; Ramos, JA; Gomez Ruiz, M; Fernandez Ruiz, J;
PUBLISHED: 2017, SOURCE: PLOS ONE, VOLUME: 12, ISSUE: 4
AUTHORS: Rodriguez Cueto, C; Hernandez Galvez, M; Hillard, CJ; Maciel, P; Valdeolivas, S; Ramos, JA; Gomez Ruiz, M; Fernandez Ruiz, J;
PUBLISHED: 2017, SOURCE: PLOS ONE, VOLUME: 12, ISSUE: 4
68
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
69
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: WOS
WOS IN MY: ORCID
ORCID70
TITLE: Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease
AUTHORS: Lopes, F; Soares, G; Gonsalves Rocha, M; Pinto Basto, J; Maciel, P;
PUBLISHED: 2017, SOURCE: FRONTIERS IN GENETICS, VOLUME: 8
AUTHORS: Lopes, F; Soares, G; Gonsalves Rocha, M; Pinto Basto, J; Maciel, P;
PUBLISHED: 2017, SOURCE: FRONTIERS IN GENETICS, VOLUME: 8
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID