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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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Confirmed Publications: 236
181
TITLE:
Trinucleotide Repeat Expansions implicated in SCA in a large group of families and isolated cases with ataxia.
AUTHORS:
Silveira, I
;
Miranda, C
;
Moreira, MC
; Mendonca, P; Alonso, I; Ferro, A; Poirier, J; Jardim, L;
Barros, José
; Coutinho, P; Pandolfo, M;
Sequeiros, J
;
PUBLISHED:
2000
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
67,
ISSUE:
4
INDEXED IN:
WOS
182
TITLE:
Anticipation of age-at-onset in Portuguese patients with familial amyloid polyneuropathy-type I (FAP-Met30)
AUTHORS:
Sousa, A; Coelho, T; Lobato, L;
Sequeiros, J
;
PUBLISHED:
1999
,
SOURCE:
VIIIth International Symposium on Amyloidosis
in
AMYLOID AND AMYLOIDOSIS 1998
INDEXED IN:
WOS
183
TITLE:
Discordant MZ twins in familial amyloid neuropathy (FAP)-TTRMet30.
AUTHORS:
Sequeiros, J
; Pedrosa, JL; Coelho, T;
Gusmao, L
;
Seruca, R
;
Amorim, Antonio
; Munar Ques, M;
PUBLISHED:
1999
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
65,
ISSUE:
4
INDEXED IN:
WOS
184
TITLE:
Epidemiology of renal disease in the main focus of familiar amyloid polyneuropathy type I in Portugal
AUTHORS:
Lobato, L
; Guimaraes, SM; Beirao, I; Silva, M; Coelho, T;
Barros, José
; Guimaraes, S;
Sequeiros, J
; Sousa, A;
PUBLISHED:
1999
,
SOURCE:
VIIIth International Symposium on Amyloidosis
in
AMYLOID AND AMYLOIDOSIS 1998
INDEXED IN:
WOS
185
TITLE:
Familiar amyloid polyneuropathy-type I (FAP-Met30) in Portugal: phenotypic variability and deviations from Mendelian inheritance
AUTHORS:
Sousa, A; Coelho, T;
Barros, José
; Ferreira, C; Lobato, L;
Sequeiros, J
;
PUBLISHED:
1999
,
SOURCE:
VIIIth International Symposium on Amyloidosis
in
AMYLOID AND AMYLOIDOSIS 1998
INDEXED IN:
WOS
186
TITLE:
In spite of being caused by a single point mutation, familial amyloid polyneuropathy (Val30Met) is not a simple Mendelian disorder.
AUTHORS:
Sousa, A; Coelho, T; Lobato, L;
Sequeiros, J
;
PUBLISHED:
1999
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
65,
ISSUE:
4
INDEXED IN:
WOS
187
TITLE:
Molecular analysis of the P/Q type Ca2+ channel alpha 1-subunit gene in patients with progressive cerebellar ataxia.
AUTHORS:
Alonso, I
;
Moreira, MC
; Mendonca, P; Jardim, L;
Barros, José
; Coutinho, P;
Sequeiros, J
; Silveira, I;
PUBLISHED:
1999
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
65,
ISSUE:
4
INDEXED IN:
WOS
188
TITLE:
Molecular analysis of the untranslated (CTG)(n) trinucleotide repeat that causes SCAB.
AUTHORS:
Silveira, I
;
Alonso, I
; Mendonca, P; Costa, M; Jardim, L; Barbot, C;
Barros, José
; Coutinho, P;
Sequeiros, J
;
PUBLISHED:
1999
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
65,
ISSUE:
4
INDEXED IN:
WOS
189
TITLE:
Molecular characterization of a set of Portuguese patients with Friedreich ataxia.
AUTHORS:
Miranda, C
;
Barbot, C
; Pinto, M; Moreira, MC; Mendonca, P; Poirier, J; Ferreira, C; Barros, J; Cabral, P; Ferro, J; Silveira, I; Pandolfo, M; Coutinho, P;
Sequeiros, J
;
PUBLISHED:
1999
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
65,
ISSUE:
4
INDEXED IN:
WOS
190
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
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