Patricia Espinheira Sá Maciel
AuthID: R-000-E14
61
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
62
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
63
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: 
WOS
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ORCID
ORCID64
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
65
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
66
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
ORCID67
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
ORCID68
TITLE: Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mechanism of neurodevelopmental disease
AUTHORS: Lopes, F; Soares, G; Gonçalves Rocha, M; Pinto Basto, J; Maciel, P;
PUBLISHED: 2017, SOURCE: Frontiers in Genetics, VOLUME: 8, ISSUE: OCT
AUTHORS: Lopes, F; Soares, G; Gonçalves Rocha, M; Pinto Basto, J; Maciel, P;
PUBLISHED: 2017, SOURCE: Frontiers in Genetics, VOLUME: 8, ISSUE: OCT
69
TITLE: A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings
AUTHORS: Seabra, CM; Szoko, N; Erdin, S; Ragavendran, A; Stortchevoi, A; Maciel, P; Lundberg, K; Schlatzer, D; Smith, J; Talkowski, ME; Gusella, JF; Natowicz, MR;
PUBLISHED: 2017, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 173, ISSUE: 9
AUTHORS: Seabra, CM; Szoko, N; Erdin, S; Ragavendran, A; Stortchevoi, A; Maciel, P; Lundberg, K; Schlatzer, D; Smith, J; Talkowski, ME; Gusella, JF; Natowicz, MR;
PUBLISHED: 2017, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 173, ISSUE: 9
