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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
171
TITLE:
Recessive ataxia with ocular apraxia - Review of 22 Portuguese patients
AUTHORS:
Barbot, C
;
Coutinho, P
; Chorao, R; Ferreira, C;
Barros, José
; Fineza, I; Dias, K; Monteiro, JP; Guimaraes, A; Mendonca, P; Moreira, MD;
Sequeiros, J
;
PUBLISHED:
2001
,
SOURCE:
ARCHIVES OF NEUROLOGY,
VOLUME:
58,
ISSUE:
2
INDEXED IN:
Scopus
WOS
IN MY:
ORCID
172
TITLE:
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
Full Text
AUTHORS:
Moreira, MC
;
Barbot, C
; Tachi, N; Kozuka, N; Uchida, E; Gibson, T; Mendonca, P; Costa, M;
Barros, José
;
Yanagisawa, T
; Watanabe, M; Ikeda, Y; Aoki, M; Nagata, T;
Coutinho, P
;
Sequeiros, J
; Koenig, M;
PUBLISHED:
2001
,
SOURCE:
NATURE GENETICS,
VOLUME:
29,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
:
307
IN MY:
ORCID
173
TITLE:
The MJD1 homologue in C-elegans is expressed ubiquitously and is essential for egg laying and hatching.
AUTHORS:
Santos, C; Ailion, M; Thomas, J;
Sequeiros, J
; Maciel, P;
PUBLISHED:
2001
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
69,
ISSUE:
4
INDEXED IN:
WOS
174
TITLE:
Trinucleotide and pentanuclectide repeats in 202 unrelated families with spinocerebellar ataxia.
AUTHORS:
Silveira, I
;
Alonso, I
;
Miranda, C
;
Guimaraes, L
;
Moreira, MC
; Mendonca, P; Ferro, A; Pinto Basto, J; Coelho, J; Ferreirinha, F; Jardim, L; Coutinho, P;
Sequeiros, J
;
PUBLISHED:
2001
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
69,
ISSUE:
4
INDEXED IN:
WOS
175
TITLE:
CACNA1A gene polymorphisms in families with episodic ataxia and hemiplegic migraine.
AUTHORS:
Alonso, I
; Coelho, J; Mendonca, P; Jardim, L; Tuna, A;
Barros, José
; Coutinho, P;
Sequeiros, J
; Silveira, I;
PUBLISHED:
2000
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
67,
ISSUE:
4
INDEXED IN:
WOS
176
TITLE:
CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation
AUTHORS:
Gaspar, C;
Jannatipour, M
;
Dion, P
; Laganiere, J;
Sequeiros, J
; Brais, B; Rouleau, GA;
PUBLISHED:
2000
,
SOURCE:
HUMAN MOLECULAR GENETICS,
VOLUME:
9,
ISSUE:
13
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
177
TITLE:
Genetic risk factors in pediatric ischemic stroke - a retrospective study.
AUTHORS:
Ferro, A; Pinto Basto, J; Barreirinho, S; Santos, M; Barbot, C;
Costa, E
; Sousa, A; Barbot, J;
Sequeiros, J
; Maciel, P;
PUBLISHED:
2000
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
67,
ISSUE:
4
INDEXED IN:
WOS
178
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
179
TITLE:
Homozygosity mapping of ataxia-oculomotor apraxia locus 1 to chromosome 9 and evidence for genetic heterogeneity.
AUTHORS:
Moreira, MC
;
Barbot, C
; Mendonca, P; Miranda, C; Coutinho, P;
Sequeiros, J
; Koenig, M;
PUBLISHED:
2000
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
67,
ISSUE:
4
INDEXED IN:
WOS
180
TITLE:
Improvement of the method for molecular diagnosis of Machado-Joseph Disease.
AUTHORS:
Costa, MC;
Santos, C
; Ferro, A;
Sequeiros, J
; Maciel, P;
PUBLISHED:
2000
,
SOURCE:
AMERICAN JOURNAL OF HUMAN GENETICS,
VOLUME:
67,
ISSUE:
4
INDEXED IN:
WOS
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