Patricia Espinheira Sá Maciel
AuthID: R-000-E14
81
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
82
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
83
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
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ORCID

84
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:
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ORCID

85
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
86
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
88
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
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89
TITLE: COMBINED THERAPY WITH m-TOR-DEPENDENT AND -INDEPENDENT AUTOPHAGY INDUCERS CAUSES NEUROTOXICITY IN A MOUSE MODEL OF MACHADO-JOSEPH DISEASE Full Text
AUTHORS: Duarte Silva, S; Silva Fernandes, A; Neves Carvalho, A; Soares Cunha, C; Teixeira Castro, A; Maciel, P;
PUBLISHED: 2016, SOURCE: NEUROSCIENCE, VOLUME: 313
AUTHORS: Duarte Silva, S; Silva Fernandes, A; Neves Carvalho, A; Soares Cunha, C; Teixeira Castro, A; Maciel, P;
PUBLISHED: 2016, SOURCE: NEUROSCIENCE, VOLUME: 313
INDEXED IN:
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ORCID

90
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