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TITLE: Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population
AUTHORS: Costa, MD; Sequeiros, J ; Maciel, P ;
PUBLISHED: 2002, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 47, ISSUE: 4

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TITLE: Rett's syndrome. Clinical features and advances in genetics [Síndrome de Rett. Características clínicas y avances genéticos.]
AUTHORS: Temudo, T; Maciel, P ;
PUBLISHED: 2002, SOURCE: Revista de neurologia, VOLUME: 34 Suppl 1

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TITLE: Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
AUTHORS: Gaspar, C; Lopes Cendes, I; Hayes, S; Goto, J; Arvidsson, K; Dias, A; Silveira, I ; Maciel, P ; Coutinho, P ; Lima, M ; Zhou, YX; Soong, BW; Watanabe, M; Giunti, P; Stevanin, G; Riess, O; Sasaki, H; Hsieh, M; Nicholson, GA; Brunt, E; Higgins, JJ; Lauritzen, M; Tranebjaerg, L; Volpini, V; Wood, N; Ranum, L; Tsuji, S; Brice, A; Sequeiros, J ; Rouleau, GA; ...More
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 68, ISSUE: 2

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TITLE: Improvement in the molecular diagnosis of Machado-Joseph disease
AUTHORS: Maciel, P ; Costa, MDC; Ferro, A; Rousseau, M; Santos, CS; Gaspar, C; Barros, José ; Rouleau, GA; Coutinho, P ; Sequeiros, J ;
PUBLISHED: 2001, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 58, ISSUE: 11

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TITLE: The genomic structure and expression of MJD, the Machado-Joseph disease gene Full Text
AUTHORS: Ichikawa, Y; Goto, J; Hattori, M; Toyoda, A; Ishii, K; Jeong, SY; Hashida, H; Masuda, N; Ogata, K; Kasai, F; Hirai, M; Maciel, P ; Rouleau, GA; Sakaki, Y; Kanazawa, I;
PUBLISHED: 2001, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 46, ISSUE: 7

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