Patricia Espinheira Sá Maciel
AuthID: R-000-E14
51
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
52
TITLE: Neuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3
AUTHORS: Sara Duarte Silva; Andreia Neves Carvalho; Carina Soares Cunha; Joana M Silva; Andreia Teixeira Castro; Rita Vieira; Anabela Silva Fernandes; Patrícia Maciel;
PUBLISHED: 2018, SOURCE: Movement Disorders, VOLUME: 33, ISSUE: 5
AUTHORS: Sara Duarte Silva; Andreia Neves Carvalho; Carina Soares Cunha; Joana M Silva; Andreia Teixeira Castro; Rita Vieira; Anabela Silva Fernandes; Patrícia Maciel;
PUBLISHED: 2018, SOURCE: Movement Disorders, VOLUME: 33, ISSUE: 5
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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
54
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
55
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: Franziska Pohl; Marie Goua; Giovanna Bermano; Wendy R Russell; Lorraine Scobbie; Patricia Maciel; Andreia Teixeira Castro; Paul Kong Thoo Lin;
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: Franziska Pohl; Marie Goua; Giovanna Bermano; Wendy R Russell; Lorraine Scobbie; Patricia Maciel; Andreia Teixeira Castro; Paul Kong Thoo Lin;
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
INDEXED IN: 
WOS
WOS56
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
57
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
58
TITLE: Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent Efforts
AUTHORS: Sofia Esteves; Sara Duarte Silva; Patrícia Maciel;
PUBLISHED: 2017, SOURCE: Medicinal Research Reviews, VOLUME: 37, ISSUE: 4
AUTHORS: Sofia Esteves; Sara Duarte Silva; Patrícia Maciel;
PUBLISHED: 2017, SOURCE: Medicinal Research Reviews, VOLUME: 37, ISSUE: 4
59
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: 
Scopus WOS 
Handle
Scopus WOS Handle IN MY: 
ORCID
ORCID60
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
