Patricia Espinheira Sá Maciel


AuthID: R-000-E14

Confirmed Publications: 191



71
TITLE: The contribution of 7q33 copy number variations for intellectual disability
AUTHORS: Lopes, F; Torres, F; Lynch, SA; Jorge, A; Sousa, S; Silva, J; Rendeiro, P; Tavares, P; Fortuna, AM; Maciel, P ;
PUBLISHED: 2018, SOURCE: NEUROGENETICS, VOLUME: 19, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
72
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
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID | CIÊNCIAVITAE
73
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
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID | CIÊNCIAVITAE
74
TITLE: Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent Efforts  Full Text
AUTHORS: Esteves, S; Duarte Silva, S; Maciel, P ;
PUBLISHED: 2017, SOURCE: MEDICINAL RESEARCH REVIEWS, VOLUME: 37, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID | CIÊNCIAVITAE
75
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
INDEXED IN: Scopus CrossRef: 17
IN MY: ORCID | CIÊNCIAVITAE
76
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
INDEXED IN: WOS
IN MY: ORCID | CIÊNCIAVITAE
77
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
INDEXED IN: Scopus WOS Handle
IN MY: ORCID | CIÊNCIAVITAE
78
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
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
79
TITLE: DYSREGULATION OF THE ENDOCANNABINOID SIGNALING SYSTEM IN THE CEREBELLUM AND BRAINSTEM IN A TRANSGENIC MOUSE MODEL OF SPINOCEREBELLAR ATAXIA TYPE-3
AUTHORS: Rodriguez Cueto, C; Hernandez Galvez, M; Hillard, CJ; Maciel, P ; Garcia Garcia, L; Valdeolivas, S; Pozo, MA; Ramos, JA; Gomez Ruiz, M; Fernandez Ruiz, J;
PUBLISHED: 2016, SOURCE: NEUROSCIENCE, VOLUME: 339
INDEXED IN: Scopus WOS CrossRef: 23
IN MY: ORCID | CIÊNCIAVITAE
80
TITLE: Identification of novel genetic causes of Rett syndrome-like phenotypes
AUTHORS: Fatima Lopes; Mafalda Barbosa; Adam Ameur; Gabriela Soares; Joaquim de Sa; Ana Isabel Dias; Guiomar Oliveira; Pedro Cabral; Teresa Temudo; Eulalia Calado; Isabel Fineza Cruz; Jose Pedro Vieira; Renata Oliveira; Sofia Esteves; Sascha Sauer; Inger Jonasson; Ann Christine Syvanen; Ulf Gyllensten; Dalila Pinto; Patricia Maciel ;
PUBLISHED: 2016, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 53, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
Page 8 of 20. Total results: 191.

footer slogan

Useful Links

Get Help

© 2026 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service