Patricia Espinheira Sá Maciel
AuthID: R-000-E14
71
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
73
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
INDEXED IN: 
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ORCID
ORCID74
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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Scopus WOS Handle IN MY: ORCID
ORCID75
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
76
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
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
AUTHORS: Duarte-Silva, S; Silva-Fernandes, A; Neves-Carvalho, A; Soares-Cunha, C; Teixeira-Castro, A; Maciel, P;
PUBLISHED: 2016, SOURCE: Neuroscience, VOLUME: 313
78
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
79
TITLE: Study into the polyphenol content and antioxidant activity of rapeseed pomace extracts
AUTHORS: Pohl, F; Goua, M; Bermano, G; Russell, WR; Maciel, P; Lin, PKT;
PUBLISHED: 2016, SOURCE: PROCEEDINGS OF THE NUTRITION SOCIETY, VOLUME: 75, ISSUE: OCE 2
AUTHORS: Pohl, F; Goua, M; Bermano, G; Russell, WR; Maciel, P; Lin, PKT;
PUBLISHED: 2016, SOURCE: PROCEEDINGS OF THE NUTRITION SOCIETY, VOLUME: 75, ISSUE: OCE 2
80
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: Scopus WOS Handle
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