Patricia Espinheira Sá Maciel
AuthID: R-000-E14
101
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
102
TITLE: Region-Specific Changes in the Expression of Hsp70 in the Central Nervous System of a Transgenic Mouse Model of Machado-Joseph Disease
AUTHORS: Cruto, T; Teixeira Castro, A; Silva Fernandes, A; Costa, MD; Duarte Silva, S; Maciel, P;
PUBLISHED: 2009, SOURCE: NEUROLOGY, VOLUME: 72, ISSUE: 11
AUTHORS: Cruto, T; Teixeira Castro, A; Silva Fernandes, A; Costa, MD; Duarte Silva, S; Maciel, P;
PUBLISHED: 2009, SOURCE: NEUROLOGY, VOLUME: 72, ISSUE: 11
INDEXED IN: 
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ORCID
ORCID103
TITLE: Huntington's disease and Huntington-like phenotype: 10 years of local molecular diagnostic experience
AUTHORS: Santos, C; Cerqueira, J; Magalhaes, P; Costa, MC; Jardim, L; Costa, C; Cruz, V ; Coutinho, P; Maciel, P; Sequeiros, J ;
PUBLISHED: 2008, SOURCE: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 79
AUTHORS: Santos, C; Cerqueira, J; Magalhaes, P; Costa, MC; Jardim, L; Costa, C; Cruz, V ; Coutinho, P; Maciel, P; Sequeiros, J ;
PUBLISHED: 2008, SOURCE: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 79
INDEXED IN: WOS
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ORCID104
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
105
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
106
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
107
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
108
TITLE: Genetic study of Portuguese patients with Huntington disease-like phenotype
AUTHORS: Costa, MC; Pereira, MC; Magalhaes, P; Matama, MT; Ferreirinha, F; Cerqueira, J; Santos, MM ; Sequeiros, J ; Maciel, P;
PUBLISHED: 2003, SOURCE: Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 73, ISSUE: 5
AUTHORS: Costa, MC; Pereira, MC; Magalhaes, P; Matama, MT; Ferreirinha, F; Cerqueira, J; Santos, MM ; Sequeiros, J ; Maciel, P;
PUBLISHED: 2003, SOURCE: Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 73, ISSUE: 5
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID109
TITLE: Genomic structure, promoter activity and developmental expression of the mouse homologue of the Machado-Joseph disease gene
AUTHORS: Costa, MC; Miranda, C; Tessaro, M; Sequeiros, J ; Santos, MM ; Maciel, P;
PUBLISHED: 2002, SOURCE: 52nd Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 71, ISSUE: 4
AUTHORS: Costa, MC; Miranda, C; Tessaro, M; Sequeiros, J ; Santos, MM ; Maciel, P;
PUBLISHED: 2002, SOURCE: 52nd Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 71, ISSUE: 4
IN MY: ORCID | ResearcherID
ORCID | ResearcherID110
TITLE: Association study of multiple sclerosis in Portuguese patients: whole genome screen using 6000 microsatellite markers and a DNA pooling strategy
AUTHORS: Pinto Basto, J; Santos, M; Rio, ME; Valenca, A; Sequeiros, J ; Maciel, P;
PUBLISHED: 2002, SOURCE: 52nd Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 71, ISSUE: 4
AUTHORS: Pinto Basto, J; Santos, M; Rio, ME; Valenca, A; Sequeiros, J ; Maciel, P;
PUBLISHED: 2002, SOURCE: 52nd Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 71, ISSUE: 4
INDEXED IN: WOS
WOS IN MY: ORCID
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