Patricia Espinheira Sá Maciel
AuthID: R-000-E14
81
TITLE: Therapeutic strategies for polyQ diseases: From cellular and animal models to the clinic
AUTHORS: Duarte-Silva S.; Jalles A.; Maciel P.;
PUBLISHED: 2012, SOURCE: Neuropathology: New Research
AUTHORS: Duarte-Silva S.; Jalles A.; Maciel P.;
PUBLISHED: 2012, SOURCE: Neuropathology: New Research
INDEXED IN: Scopus
IN MY: ORCID
82
TITLE: Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to overexpression of the MECP2 gene Full Text
AUTHORS: Vieira, JP; Silva Fernandes, A; Moura, S; Maciel, P;
PUBLISHED: 2010, SOURCE: 18th Biennial Meeting of the International-Society-for-Developmental-Neuroscience in INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 28, ISSUE: 8
AUTHORS: Vieira, JP; Silva Fernandes, A; Moura, S; Maciel, P;
PUBLISHED: 2010, SOURCE: 18th Biennial Meeting of the International-Society-for-Developmental-Neuroscience in INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 28, ISSUE: 8
INDEXED IN: WOS CrossRef
IN MY: ORCID | ResearcherID
83
TITLE: Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención temprana
AUTHORS: Prior, C; Nunes, A; Rios, M; Sequeiros, J; Maciel, P; Gomes, L; Temudo, T;
PUBLISHED: 2010, SOURCE: Anales de Pediatría, VOLUME: 72, ISSUE: 3
AUTHORS: Prior, C; Nunes, A; Rios, M; Sequeiros, J; Maciel, P; Gomes, L; Temudo, T;
PUBLISHED: 2010, SOURCE: Anales de Pediatría, VOLUME: 72, ISSUE: 3
84
TITLE: Age- and Region-Specific Analysis of Monoaminergic Systems in the Brain of Mecp2-Null Mice Implies the Prefrontal and Motor Cortices in the Earliest Stages of Disease
AUTHORS: Monica Santos; Teresa Summavielle; Anabela Silva Fernandes; Andreia Teixeira Castro; Mara Dierssen; Pedro Oliveira; Nuno Sousa; Patricia Maciel;
PUBLISHED: 2009, SOURCE: 61st Annual Meeting of American-Academy-of-Neurology in NEUROLOGY, VOLUME: 72, ISSUE: 11
AUTHORS: Monica Santos; Teresa Summavielle; Anabela Silva Fernandes; Andreia Teixeira Castro; Mara Dierssen; Pedro Oliveira; Nuno Sousa; Patricia Maciel;
PUBLISHED: 2009, SOURCE: 61st Annual Meeting of American-Academy-of-Neurology in NEUROLOGY, VOLUME: 72, ISSUE: 11
INDEXED IN: WOS
IN MY: ResearcherID
85
TITLE: Genotype-Phenotype Correlation in a Transgenic Mouse Model of Machado-Joseph Disease
AUTHORS: Anabela Silva Fernandes; Maria Do Carmo Costa; Sara Duarte Silva; Cristina Costa; Pedro Oliveira; Patricia Maciel;
PUBLISHED: 2009, SOURCE: 61st Annual Meeting of American-Academy-of-Neurology in NEUROLOGY, VOLUME: 72, ISSUE: 11
AUTHORS: Anabela Silva Fernandes; Maria Do Carmo Costa; Sara Duarte Silva; Cristina Costa; Pedro Oliveira; Patricia Maciel;
PUBLISHED: 2009, SOURCE: 61st Annual Meeting of American-Academy-of-Neurology in NEUROLOGY, VOLUME: 72, ISSUE: 11
INDEXED IN: WOS
IN MY: ResearcherID
86
TITLE: Nucleocytoplasmic Shuttling Activity of Ataxin-3 Full Text
AUTHORS: Sandra Macedo-Ribeiro; Luísa Cortes; Patrícia Maciel; Ana Luísa Carvalho;
PUBLISHED: 2009, SOURCE: PLoS ONE, VOLUME: 4, ISSUE: 6
AUTHORS: Sandra Macedo-Ribeiro; Luísa Cortes; Patrícia Maciel; Ana Luísa Carvalho;
PUBLISHED: 2009, SOURCE: PLoS ONE, VOLUME: 4, ISSUE: 6
87
TITLE: Analysis of Highly Conserved Regions of the 3’UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation Full Text
AUTHORS: Mónica Santos; Jin Yan; Teresa Temudo; Guiomar Oliveira; José Pedro Vieira; Jinong Fen; Steve Sommer; Patrícia Maciel;
PUBLISHED: 2008, SOURCE: Disease Markers, VOLUME: 24, ISSUE: 6
AUTHORS: Mónica Santos; Jin Yan; Teresa Temudo; Guiomar Oliveira; José Pedro Vieira; Jinong Fen; Steve Sommer; Patrícia Maciel;
PUBLISHED: 2008, SOURCE: Disease Markers, VOLUME: 24, ISSUE: 6
88
TITLE: An explanation for another familial case of Rett syndrome: maternal germline mosaicism Full Text
AUTHORS: Margarida Venâncio; Mónica Santos; Susana Aires Pereira; Patrícia Maciel; Jorge M Saraiva;
PUBLISHED: 2007, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 15, ISSUE: 8
AUTHORS: Margarida Venâncio; Mónica Santos; Susana Aires Pereira; Patrícia Maciel; Jorge M Saraiva;
PUBLISHED: 2007, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 15, ISSUE: 8
89
TITLE: Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR) Full Text
AUTHORS: Jinxiu Shi; Akane Shibayama; Qiang Liu; Vu Q Nguyen; Jinong Feng; M�nica Santos; Teresa Temudo; Patricia Maciel; Steve S Sommer;
PUBLISHED: 2005, SOURCE: Human Mutation - Hum. Mutat., VOLUME: 25, ISSUE: 5
AUTHORS: Jinxiu Shi; Akane Shibayama; Qiang Liu; Vu Q Nguyen; Jinong Feng; M�nica Santos; Teresa Temudo; Patricia Maciel; Steve S Sommer;
PUBLISHED: 2005, SOURCE: Human Mutation - Hum. Mutat., VOLUME: 25, ISSUE: 5
90
TITLE: Population Genetics of Wild-Type CAG Repeats in the <i>Machado-Joseph Disease</i> Gene in Portugal
AUTHORS: Lima, M; M.C Costa; Montiel, R; Ferro, A; Santos, C; Silva, C; Bettencourt, C; Sousa, A; Sequeiros, J; Coutinho, P; Maciel, P;
PUBLISHED: 2005, SOURCE: Human Heredity - Hum Hered, VOLUME: 60, ISSUE: 3
AUTHORS: Lima, M; M.C Costa; Montiel, R; Ferro, A; Santos, C; Silva, C; Bettencourt, C; Sousa, A; Sequeiros, J; Coutinho, P; Maciel, P;
PUBLISHED: 2005, SOURCE: Human Heredity - Hum Hered, VOLUME: 60, ISSUE: 3