Patricia Espinheira Sá Maciel
AuthID: R-000-E14
51
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
52
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
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
53
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
54
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
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
55
TITLE: Differential mtDNA Damage Patterns in a Transgenic Mouse Model of Machado-Joseph Disease (MJD/SCA3) Full Text
AUTHORS: Ramos, A; Kazachkova, N; Silva, F; Maciel, P; Silva Fernandes, A; Duarte Silva, S; Santos, C; Lima, M;
PUBLISHED: 2015, SOURCE: JOURNAL OF MOLECULAR NEUROSCIENCE, VOLUME: 55, ISSUE: 2
AUTHORS: Ramos, A; Kazachkova, N; Silva, F; Maciel, P; Silva Fernandes, A; Duarte Silva, S; Santos, C; Lima, M;
PUBLISHED: 2015, SOURCE: JOURNAL OF MOLECULAR NEUROSCIENCE, VOLUME: 55, ISSUE: 2
INDEXED IN: 
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Scopus WOS Handle IN MY: 
ORCID
ORCID56
TITLE: The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3 '-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis Full Text
AUTHORS: Arpita Chatterjee; Saikat Saha; Anirban Chakraborty; Anabela Silva Fernandes; Santi M Mandal; Andreia Neves Carvalho; Yongping P Liu; Raj K Pandita; Muralidhar L Hegde; Pavana M Hegde; Istvan Boldogh; Tetsuo Ashizawa; Arnulf H Koeppen; Tej K Pandita; Patricia Maciel; Partha S Sarkar; Tapas K Hazra;
PUBLISHED: 2015, SOURCE: PLOS GENETICS, VOLUME: 11, ISSUE: 1
AUTHORS: Arpita Chatterjee; Saikat Saha; Anirban Chakraborty; Anabela Silva Fernandes; Santi M Mandal; Andreia Neves Carvalho; Yongping P Liu; Raj K Pandita; Muralidhar L Hegde; Pavana M Hegde; Istvan Boldogh; Tetsuo Ashizawa; Arnulf H Koeppen; Tej K Pandita; Patricia Maciel; Partha S Sarkar; Tapas K Hazra;
PUBLISHED: 2015, SOURCE: PLOS GENETICS, VOLUME: 11, ISSUE: 1
57
TITLE: Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3 Full Text
AUTHORS: Rui Gao; Yongping P Liu; Anabela Silva Fernandes; Xiang Fang; Adriana Paulucci Holthauzen; Arpita Chatterjee; Hang L Zhang; Tohru Matsuura; Sanjeev Choudhary; Tetsuo Ashizawa; Arnulf H Koeppen; Patricia Maciel; Tapas K Hazra; Partha S Sarkar;
PUBLISHED: 2015, SOURCE: PLOS GENETICS, VOLUME: 11, ISSUE: 1
AUTHORS: Rui Gao; Yongping P Liu; Anabela Silva Fernandes; Xiang Fang; Adriana Paulucci Holthauzen; Arpita Chatterjee; Hang L Zhang; Tohru Matsuura; Sanjeev Choudhary; Tetsuo Ashizawa; Arnulf H Koeppen; Patricia Maciel; Tapas K Hazra; Partha S Sarkar;
PUBLISHED: 2015, SOURCE: PLOS GENETICS, VOLUME: 11, ISSUE: 1
58
TITLE: Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells
AUTHORS: Andreia Neves Carvalho; Elsa Logarinho; Ana Freitas; Sara Duarte Silva; Maria do Carmo Costa; Anabela Silva Fernandes; Margarida Martins; Sofia Cravino Serra; Andre T Lopes; Henry L Paulson; Peter Heutink; Joao B Relvas ; Patricia Maciel;
PUBLISHED: 2015, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 24, ISSUE: 1
AUTHORS: Andreia Neves Carvalho; Elsa Logarinho; Ana Freitas; Sara Duarte Silva; Maria do Carmo Costa; Anabela Silva Fernandes; Margarida Martins; Sofia Cravino Serra; Andre T Lopes; Henry L Paulson; Peter Heutink; Joao B Relvas ; Patricia Maciel;
PUBLISHED: 2015, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS IN MY: ORCID
ORCID59
TITLE: Novel candidate blood-based transcriptional biomarkers of machado-joseph disease. NOVEL BLOOD-BASED BIOMARKERS OF MJD/SCA3
AUTHORS: Raposo, M; Bettencourt, C; Maciel, P; Gao, F; Ramos, A; Kazachkova, N; Vasconcelos, J; Kay, T; Rodrigues, AJ; Bettencourt, B; Bruges Armas, J; Geschwind, D; Coppola, G; Lima, M;
PUBLISHED: 2015, SOURCE: MOVEMENT DISORDERS, VOLUME: 30, ISSUE: 7
AUTHORS: Raposo, M; Bettencourt, C; Maciel, P; Gao, F; Ramos, A; Kazachkova, N; Vasconcelos, J; Kay, T; Rodrigues, AJ; Bettencourt, B; Bruges Armas, J; Geschwind, D; Coppola, G; Lima, M;
PUBLISHED: 2015, SOURCE: MOVEMENT DISORDERS, VOLUME: 30, ISSUE: 7
60
TITLE: Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene Full Text
AUTHORS: Vieira, JP; Lopes, F; Silva Fernandes, A; Sousa, MV; Moura, S; Sousa, S; Costa, BM; Barbosa, M; Ylstra, B; Temudo, T; Lourenco, T; Maciel, P;
PUBLISHED: 2015, SOURCE: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 46
AUTHORS: Vieira, JP; Lopes, F; Silva Fernandes, A; Sousa, MV; Moura, S; Sousa, S; Costa, BM; Barbosa, M; Ylstra, B; Temudo, T; Lourenco, T; Maciel, P;
PUBLISHED: 2015, SOURCE: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 46
INDEXED IN: Scopus WOS
Scopus WOS IN MY: ORCID
ORCID