Patricia Espinheira Sá Maciel
AuthID: R-000-E14
81
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
82
TITLE: Study of the normal CAG tract at the Huntington disease locus in the Portuguese population Full Text
AUTHORS: Costa, MC; Guimaraes, L ; Ferreirinha, F; Sousa, A; Maciel, P; Sequeiros, J ;
PUBLISHED: 2002, SOURCE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
AUTHORS: Costa, MC; Guimaraes, L ; Ferreirinha, F; Sousa, A; Maciel, P; Sequeiros, J ;
PUBLISHED: 2002, SOURCE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXED IN: WOS
83
TITLE: Frequency of SCA1, DRPLA, MJD, SCA2 and SCA6 mutations in a large group of Portuguese families with spinocerebellar ataxia Full Text
AUTHORS: Silveira, I; Coutinho, P; Maciel, P; Hayes, S; Dias, A; Guimaraes, J; Loureiro, LL; Barros, José ; Chorao, R; Ribeiro, P; Bettencourt, M; Serrano, P; Silva, C; Rouleau, GA; Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
AUTHORS: Silveira, I; Coutinho, P; Maciel, P; Hayes, S; Dias, A; Guimaraes, J; Loureiro, LL; Barros, José ; Chorao, R; Ribeiro, P; Bettencourt, M; Serrano, P; Silva, C; Rouleau, GA; Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
84
TITLE: An intermediate allele of 51 repeats found at the Machado-Joseph disease (MJD) locus: implications for predictive testing and the study of the origin of MJD mutation.
AUTHORS: Maciel, P; Rousseau, M; Gaspar, C; Coutinho, P; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
AUTHORS: Maciel, P; Rousseau, M; Gaspar, C; Coutinho, P; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
85
TITLE: Frequency of the CAG repeat mutations causing spinocerebellar ataxia in a large group of Portuguese ataxia families.
AUTHORS: Silveira, I; Coutinho, P; Maciel, P; Gaspar, C; Hayes, S; Dias, A; Guimaraes, J; Loureiro, L; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
AUTHORS: Silveira, I; Coutinho, P; Maciel, P; Gaspar, C; Hayes, S; Dias, A; Guimaraes, J; Loureiro, L; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
86
TITLE: Limits of Clinical Assessment in the Accurate Diagnosis of Machado-Joseph Disease
AUTHORS: Lopes-Cendes, I; Silveira, I; Maciel, P; Gaspar, C; Radvany, J; Chitayat, D; Babul, R; Stewart, J; Dolliver, M; Robitaille, Y; Rouleau, GA; Sequeiros, J;
PUBLISHED: 1996, SOURCE: Archives of Neurology, VOLUME: 53, ISSUE: 11
AUTHORS: Lopes-Cendes, I; Silveira, I; Maciel, P; Gaspar, C; Radvany, J; Chitayat, D; Babul, R; Stewart, J; Dolliver, M; Robitaille, Y; Rouleau, GA; Sequeiros, J;
PUBLISHED: 1996, SOURCE: Archives of Neurology, VOLUME: 53, ISSUE: 11
87
TITLE: Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and machado-joseph disease
AUTHORS: Iscia Lopes-Cendes; Patr�cia Maciel; Stephen Kish; Claudia Gaspar; Isabel Silveira; Yves Robitaille; Brent B Clark; Arnulf H Koeppen; Martha Nance; Lawrence Schut; Paula Coutinho; Jorge Sequeiros; Guy A Rouleau;
PUBLISHED: 1996, SOURCE: Annals of Neurology - Ann Neurol., VOLUME: 40, ISSUE: 2
AUTHORS: Iscia Lopes-Cendes; Patr�cia Maciel; Stephen Kish; Claudia Gaspar; Isabel Silveira; Yves Robitaille; Brent B Clark; Arnulf H Koeppen; Martha Nance; Lawrence Schut; Paula Coutinho; Jorge Sequeiros; Guy A Rouleau;
PUBLISHED: 1996, SOURCE: Annals of Neurology - Ann Neurol., VOLUME: 40, ISSUE: 2
88
TITLE: Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
AUTHORS: Silveira, I; Lopes-Cendes, I; Kish, S; Maciel, P; Gaspar, C; Coutinho, P; Botez, MI; Teive, H; Arruda, W; Steiner, CE; Pinto-Junior, W; Maciel, JA; Jain, S; Sack, G; Andermann, E; Sudarsky, L; Rosenberg, R; MacLeod, P; Chitayat, D; Babul, R; ...More
PUBLISHED: 1996, SOURCE: Neurology, VOLUME: 46, ISSUE: 1
AUTHORS: Silveira, I; Lopes-Cendes, I; Kish, S; Maciel, P; Gaspar, C; Coutinho, P; Botez, MI; Teive, H; Arruda, W; Steiner, CE; Pinto-Junior, W; Maciel, JA; Jain, S; Sack, G; Andermann, E; Sudarsky, L; Rosenberg, R; MacLeod, P; Chitayat, D; Babul, R; ...More
PUBLISHED: 1996, SOURCE: Neurology, VOLUME: 46, ISSUE: 1
89
TITLE: MOLECULAR STUDIES OF THE CAG REPEAT IN MJD-CORRELATION WITH CLINICAL PRESENTATION AND ANTICIPATION
AUTHORS: MACIEL, P; DESTEFANO, AL; GASPAR, C; COUTINHO, P; RADVANY, J; DAWSON, DM; SUDARSKY, L; ROSENBERG, RN; MACLEOD, P; FARRER, LA; SEQUEIROS, J ; ROULEAU, GA;
PUBLISHED: 1995, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 57, ISSUE: 4
AUTHORS: MACIEL, P; DESTEFANO, AL; GASPAR, C; COUTINHO, P; RADVANY, J; DAWSON, DM; SUDARSKY, L; ROSENBERG, RN; MACLEOD, P; FARRER, LA; SEQUEIROS, J ; ROULEAU, GA;
PUBLISHED: 1995, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 57, ISSUE: 4
INDEXED IN: WOS
90
TITLE: Gender equality in Machado–Joseph disease
AUTHORS: Anita L DeStefano; Lindsay A Farrer; Patricia Maciel; Claudia Gaspar; Guy A Rouleau; Paula Coutinho; Jorge Sequeiros;
PUBLISHED: 1995, SOURCE: Nature Genetics - Nat Genet, VOLUME: 11, ISSUE: 2
AUTHORS: Anita L DeStefano; Lindsay A Farrer; Patricia Maciel; Claudia Gaspar; Guy A Rouleau; Paula Coutinho; Jorge Sequeiros;
PUBLISHED: 1995, SOURCE: Nature Genetics - Nat Genet, VOLUME: 11, ISSUE: 2