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Patricia Espinheira Sá Maciel
AuthID:
R-000-E14
Publications
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Document Source:
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Document Type:
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Article (145)
Review (14)
Abstract (11)
Correction (4)
Article in Press (3)
Note (2)
Letter (2)
Proceedings Paper (2)
Unpublished (1)
Book Chapter (1)
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Confirmed Publications: 185
161
TITLE:
Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
AUTHORS:
Gaspar, C; Lopes Cendes, I; Hayes, S; Goto, J;
Arvidsson, K
; Dias, A;
Silveira, I
;
Maciel, P
;
Coutinho, P
;
Lima, M
; Zhou, YX; Soong, BW; Watanabe, M; Giunti, P;
Stevanin, G
; Riess, O; Sasaki, H; Hsieh, M; Nicholson, GA; Brunt, E;
Higgins, JJ;
Lauritzen, M;
Tranebjaerg, L;
Volpini, V;
Wood, N;
Ranum, L;
Tsuji, S;
Brice, A;
Sequeiros, J
;
Rouleau, GA;
...More
PUBLISHED:
2001
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
68,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
|
CIÊNCIAVITAE
162
TITLE:
Improvement in the molecular diagnosis of Machado-Joseph disease
AUTHORS:
Maciel, P
;
Costa, MDC
; Ferro, A; Rousseau, M;
Santos, CS
; Gaspar, C;
Barros, José
; Rouleau, GA;
Coutinho, P
;
Sequeiros, J
;
PUBLISHED:
2001
,
SOURCE:
ARCHIVES OF NEUROLOGY,
VOLUME:
58,
ISSUE:
11
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
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CIÊNCIAVITAE
163
TITLE:
The genomic structure and expression of MJD, the Machado-Joseph disease gene
Full Text
AUTHORS:
Ichikawa, Y; Goto, J; Hattori, M;
Toyoda, A
; Ishii, K;
Jeong, SY
; Hashida, H; Masuda, N; Ogata, K; Kasai, F; Hirai, M;
Maciel, P
; Rouleau, GA; Sakaki, Y; Kanazawa, I;
PUBLISHED:
2001
,
SOURCE:
JOURNAL OF HUMAN GENETICS,
VOLUME:
46,
ISSUE:
7
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
|
CIÊNCIAVITAE
164
TITLE:
High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles
AUTHORS:
Silveira, I
;
Alonso, I
;
Guimaraes, L
; Mendonca, P;
Santos, C
;
Maciel, P
; de Matos, JMF;
Costa, M
;
Barbot, C
; Tuna, A;
Barros, José
; Jardim, L;
Coutinho, P
;
Sequeiros, J
;
PUBLISHED:
2000
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
66,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
:
65
IN MY:
ORCID
|
ResearcherID
|
CIÊNCIAVITAE
165
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
:
23
IN MY:
ORCID
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ResearcherID
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CIÊNCIAVITAE
166
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
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CIÊNCIAVITAE
167
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
168
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
169
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
170
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
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