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António Jorge dos Santos Pereira de Sequeiros
AuthID:
R-000-23K
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (137)
Abstract (65)
Letter (12)
Review (6)
Proceedings Paper (5)
Article in Press (4)
Note (2)
Correction (2)
Editorial Material (2)
Biographical-Item (1)
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IF Scopus Dsc
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Title Dsc
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Confirmed Publications: 236
191
TITLE:
Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30
AUTHORS:
Munar Ques, M; Pedrosa, JL; Coelho, T;
Gusmao, L
;
Seruca, R
;
Amorim, Antonio
;
Sequeiros, J
;
PUBLISHED:
1999
,
SOURCE:
JOURNAL OF MEDICAL GENETICS,
VOLUME:
36,
ISSUE:
8
INDEXED IN:
Scopus
WOS
IN MY:
ORCID
192
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
193
TITLE:
Anticipation of age-at-onset in Portuguese patients with familial amyloid polyneuropathy (FAPMET30)
Full Text
AUTHORS:
Sousa, A; Coelho, T; Lobato, L;
Barros, José
; Ferreira, C;
Sequeiros, J
;
PUBLISHED:
1998
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
6
INDEXED IN:
WOS
194
TITLE:
Familial amyloid polyneuropathy (FAP-Met30) in Portugal and Sweden: phenotypic variability and departures from mendelian inheritance
Full Text
AUTHORS:
Sousa, A; Coelho, T; Lobato, L;
Barros, José
; Ferreira, C; Andersson, R; Drugge, U; Sandgren, O; Holmgren, G;
Sequeiros, J
;
PUBLISHED:
1998
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
6
INDEXED IN:
WOS
195
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
INDEXED IN:
WOS
196
TITLE:
Genetics of Machado-Joseph disease
Full Text
AUTHORS:
Sequeiros, J
;
PUBLISHED:
1998
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
6
INDEXED IN:
WOS
197
TITLE:
Living with Machado-Joseph disease (MJD) in a small rural community of the Tagus valley
Full Text
AUTHORS:
Constança Paul
;
Martin, I
; Rosario Silva, M;
Silva, M
;
Coutinho, P
;
Sequeiros, J
;
PUBLISHED:
1998
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
6,
ISSUE:
4
INDEXED IN:
Scopus
WOS
IN MY:
ORCID
198
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
199
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
IN MY:
ORCID
200
TITLE:
Sex difference of renal disease in familial amyloid polyneuropathy type I (FAP-I)
Full Text
AUTHORS:
Lobato, L
; Sousa, A;
Beirao, I
; Guimaraes, S;
Sequeiros, J
;
PUBLISHED:
1998
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
6
INDEXED IN:
WOS
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