Patricia Espinheira Sá Maciel


AuthID: R-000-E14

Confirmed Publications: 191



171
TITLE: Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)(n) tract  Full Text
AUTHORS: Maciel, P ; Gasper, C; Guimaraes, L ; Goto, J; Lopez Cendes, I; Hayes, S; Arvidsson, K; Dias, A; Sequeiros, J ; Sousa, A ; Rouleau, GA;
PUBLISHED: 1999, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 7, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 27
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
172
TITLE: Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families  Full Text
AUTHORS: Silveira, I ; Coutinho, P ; Maciel, P ; Gaspar, C; Hayes, S; Dias, A; Guimaraes, J; Loureiro, L; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1998, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS, VOLUME: 81, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
173
TITLE: Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis  Full Text
AUTHORS: Sequeiros, J ; Maciel, P ; Taborda, F; Ledo, S ; Rocha, JC; Lopes, A; Reto, F; Fortuna, AM; Rousseau, M; Fleming, M; Coutinho, P ; Rouleau, GA; Jorge, CS;
PUBLISHED: 1998, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 18, ISSUE: 6
INDEXED IN: WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
174
TITLE: Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis  Full Text
AUTHORS: Sequeiros, J ; Maciel, P ; Taborda, F; Ledo, S ; Rocha, JC; Lopes, A; Reto, F; Fortuna, AM; Rousseau, M; Fleming, M; Coutinho, P ; Rouleau, GA; Jorge, CS;
PUBLISHED: 1998, SOURCE: Prenatal Diagnosis, VOLUME: 18, ISSUE: 6
INDEXED IN: Scopus CrossRef
175
TITLE: Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13  Full Text
AUTHORS: Xie, YG; Rochefort, D; Brais, B; Howard, H; Han, FY; Gou, LP; Maciel, P ; The, BT; Larsson, C; Rouleau, GA;
PUBLISHED: 1998, SOURCE: GENOMICS, VOLUME: 52, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
176
TITLE: Machado-Joseph disease gene products carrying different carboxyl termini  Full Text
AUTHORS: Goto, J; Watanabe, M; Ichikawa, Y; Yee, SB; Ihara, N; Endo, K; Igarashi, S; Takiyama, Y; Gaspar, C; Maciel, P ; Tsuji, S; Rouleau, GA; Kanazawa, I;
PUBLISHED: 1997, SOURCE: NEUROSCIENCE RESEARCH, VOLUME: 28, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
177
TITLE: Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients
AUTHORS: Maciel, P ; LopesCendes, I; Kish, S; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 60, ISSUE: 4
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID
178
TITLE: A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease
AUTHORS: DeStefano, AL; Cupples, LA; Maciel, P ; Gaspar, C; Radvany, J; Dawson, DM; Sudarsky, L; Corwin, L; Coutinho, P ; MacLeod, P; Sequeiros, J ; Rouleau, GA; Farrer, LA;
PUBLISHED: 1996, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 59, ISSUE: 1
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
179
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 ; LopesCendes, I; Kish, S; Maciel, P ; Gaspar, C; Coutinho, P ; Botez, MI; Teive, H; Arruda, W; Steiner, CE; PintoJunior, W; Maciel, JA; Jain, S; Sack, G; Andermann, E; Sudarsky, L; Rosenberg, R; MacLeod, P; Chitayat, D; Babul, R; Sequeiros, J ; Rouleau, GA; ...More
PUBLISHED: 1996, SOURCE: NEUROLOGY, VOLUME: 46, ISSUE: 1
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
180
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; Sequeiros, J; Rouleau, GA; ...More
PUBLISHED: 1996, SOURCE: Neurology, VOLUME: 46, ISSUE: 1
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
Page 18 of 20. Total results: 191.

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