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Patricia Espinheira Sá Maciel
AuthID:
R-000-E14
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Document Source:
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Document Type:
All Document Types
Article (71)
Review (6)
Note (2)
Letter (2)
Correction (1)
Proceedings Paper (1)
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Order:
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Cit. WOS Dsc
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Cit. Scopus Dsc
IF Scopus Dsc
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Title Dsc
Results:
10
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50
Confirmed Publications: 83
51
TITLE:
Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement
AUTHORS:
Maciel, P
;
Cruz, VT
; Constante, M;
Iniesta, I
;
Costa, MC
; Gallati, S;
Sousa, N
;
Sequeiros, J
;
Coutinho, P
; Santos, MM;
PUBLISHED:
2005
,
SOURCE:
NEUROLOGY,
VOLUME:
65,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
80
IN MY:
ORCID
|
ResearcherID
52
TITLE:
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea
Full Text
AUTHORS:
Costa, MD;
Costa, C
;
Silva, AP
; Evangelista, P;
Santos, L
;
Ferro, A
;
Sequeiros, J
;
Maciel, P
;
PUBLISHED:
2005
,
SOURCE:
NEUROGENETICS,
VOLUME:
6,
ISSUE:
4
INDEXED IN:
Scopus
WOS
CrossRef
:
36
IN MY:
ORCID
|
ResearcherID
53
TITLE:
Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal
AUTHORS:
Lima, M
;
Costa, MC
;
Montiel, R
; Ferro, A; Santos, C; Silva, C; Bettencourt, C;
Sousa, A
;
Sequeiros, J
;
Coutinho, P
;
Maciel, P
;
PUBLISHED:
2005
,
SOURCE:
HUMAN HEREDITY,
VOLUME:
60,
ISSUE:
3
INDEXED IN:
Scopus
WOS
IN MY:
ORCID
|
ResearcherID
54
TITLE:
Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: Trapping early oligomers of non-expanded ataxin-3
Full Text
AUTHORS:
Gales, L
;
Cortes, L
;
Almeida, C
; Melo, CV;
Costa, MD
;
Maciel, P
; Clarke, DT;
Damas, AM
;
Macedo Ribeiro, S
;
PUBLISHED:
2005
,
SOURCE:
JOURNAL OF MOLECULAR BIOLOGY,
VOLUME:
353,
ISSUE:
3
INDEXED IN:
Scopus
WOS
CrossRef
:
57
IN MY:
ORCID
|
ResearcherID
55
TITLE:
Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin
AUTHORS:
Santos, M
; Costa, MD; Rio, ME;
Sa, MJ
; Monteiro, M; Valenca, A; Sa, A; Dinis, J; Figueiredo, J; de Almeida, LB;
Valongueiro, A
; Coelho, I;
Matama, MT
;
Pinto Basto, J
;
Sequeiros, J
;
Maciel, P
;
PUBLISHED:
2004
,
SOURCE:
MULTIPLE SCLEROSIS,
VOLUME:
10,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
:
22
IN MY:
ORCID
|
ResearcherID
56
TITLE:
A whole genome screen for association with multiple sclerosis in Portuguese patients
Full Text
AUTHORS:
Santos, M;
Pinto Basto, J
; Rio, ME;
Sa, MJ
; Valenca, A; Sa, A; Dinis, J; Figueiredo, J; de Almeida, LB; Coelho, I; Sawcer, S; Setakis, E; Compston, A;
Sequeiros, J
;
Maciel, P
;
PUBLISHED:
2003
,
SOURCE:
JOURNAL OF NEUROIMMUNOLOGY,
VOLUME:
143,
ISSUE:
1-2
INDEXED IN:
Scopus
WOS
CrossRef
:
10
IN MY:
ORCID
|
ResearcherID
57
TITLE:
Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients
Full Text
AUTHORS:
Alizadeh, M
; Babron, MC; Birebent, B;
Matsuda, F
;
Quelvennec, E
;
Liblau, R
;
Cournu Rebeix, I
; Momigliano Richiardi, P;
Sequeiros, J
; Yaouanq, J; Genin, E; Vasilescu, A;
Bougerie, H
; Trojano, M;
Silva, BM
;
Maciel, P
; Clerget Darpoux, F; Clanet, M; Edan, G;
Fontaine, B
;
Semana, G;
...More
PUBLISHED:
2003
,
SOURCE:
ANNALS OF NEUROLOGY,
VOLUME:
54,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
IN MY:
ORCID
|
ResearcherID
58
TITLE:
Inherited and acquired risk factors and their combined effects in pediatric stroke
Full Text
AUTHORS:
Barreirinho, S;
Ferro, A
; Santos, M;
Costa, E
;
Pinto Basto, J
;
Sousa, A
;
Sequeiros, J
;
Maciel, P
;
Barbot, C
;
Barbot, J
;
PUBLISHED:
2003
,
SOURCE:
PEDIATRIC NEUROLOGY,
VOLUME:
28,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
:
56
IN MY:
ORCID
|
ResearcherID
59
TITLE:
Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice
Full Text
AUTHORS:
Costa, MD
; Magalhaes, P;
Ferreirinha, F
;
Guimaraes, L
; Januario, C; Gaspar, I; Loureiro, L; Vale, J;
Garrett, C
; Regateiro, F;
Magalhaes, M
;
Sousa, A
;
Maciel, P
;
Sequeiros, J
;
PUBLISHED:
2003
,
SOURCE:
EUROPEAN JOURNAL OF HUMAN GENETICS,
VOLUME:
11,
ISSUE:
11
INDEXED IN:
Scopus
WOS
CrossRef
:
15
IN MY:
ORCID
|
ResearcherID
60
TITLE:
Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific alleles
AUTHORS:
Maciel, P
; Yan, J; Feng, J; Accurso, F; Sommer, S;
PUBLISHED:
2003
,
SOURCE:
BIOTECHNIQUES,
VOLUME:
34,
ISSUE:
3
INDEXED IN:
Scopus
WOS
IN MY:
ORCID
|
ResearcherID
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