Patricia Espinheira Sá Maciel


AuthID: R-000-E14

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: ResearcherID
54
TITLE: Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: Trapping early oligomers of non-expanded ataxin-3
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 Handle
IN MY: ORCID
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 Handle
IN MY: ORCID
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
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 Handle
IN MY: ORCID
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
Page 6 of 9. Total results: 83.

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