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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
122
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
123
TITLE: Size distribution, dynamics, and haplotype studies of the (CAG)n at the HD locus in 140 affected families and the general Portuguese population
AUTHORS: Costado, MC; Magalhaes, P; Guimaraes, L ; Maciel, P; Sousa, A; Sequeiros, J ;
PUBLISHED: 2005, SOURCE: World Congress on Huntingtons Disease in JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 76
INDEXED IN: WOS
125
TITLE: End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors  Full Text
AUTHORS: Lobato, L ; Beirao, I ; Silva, M; Fonseca, I ; Queiros, J; Rocha, G; Sarmento, AM; Sousa, A ; Sequeiros, J ;
PUBLISHED: 2004, SOURCE: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 45
IN MY: ORCID
126
TITLE: Frataxin overexpressing mice  Full Text
AUTHORS: Miranda, CJ; Santos, MM ; Ohshima, K; Tessaro, M; Sequeiros, J ; Pandolfo, M;
PUBLISHED: 2004, SOURCE: FEBS LETTERS, VOLUME: 572, ISSUE: 1-3
INDEXED IN: Scopus WOS CrossRef: 24
IN MY: ORCID
127
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
128
TITLE: Pshycho-social impact of presymptomatic testing in Machado-Joseph disease [Impacto psicológico do teste pré-sintomático na doença de Machado-Joseph. Resultados preliminares]
AUTHORS: Fleming, M; Ledo, S ; Rocha, JC; Sequeiros, J ;
PUBLISHED: 2004, SOURCE: Arquivos de Medicina, VOLUME: 18, ISSUE: 1-2
INDEXED IN: Scopus
IN MY: ORCID
129
TITLE: Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2  Full Text
AUTHORS: Moreira, MC; Klur, S; Watanabe, M; Nemeth, AH; Le Ber, I; Moniz, JC; Tranchant, C; Aubourg, P; Tazir, M; Schols, L; Pandolfo, M; Schulz, JB; Pouget, J; Calvas, P; Shizuka Ikeda, M; Shoji, M; Tanaka, M; Izatt, L; Shaw, CE; M'Zahem, A; Dunne, E; Bomont, P; Benhassine, T; Bouslam, N; Stevanin, G; Brice, A; Guimaraes, J; Mendonca, P; Barbot, C ; Coutinho, P ; Sequeiros, J ; Durr, A; Warter, JM; Koenig, M; ...More
PUBLISHED: 2004, SOURCE: NATURE GENETICS, VOLUME: 36, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
130
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
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