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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: Homozygosity mapping of portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity
AUTHORS: Moreira, MD; Barbot, C ; Tachi, N; Kozuka, N; Mendonca, P; Barros, José ; Coutinho, P ; Sequeiros, J ; Koenig, M;
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: Natural selection at the MJD locus: Phenotypic diversity, survival and fertility among Machado-Joseph Disease patients from the Azores
AUTHORS: Lima, M; Smith, MT; Silva, C; Abade, A; Mayer, FM; Coutinho, P ;
PUBLISHED: 2001, SOURCE: JOURNAL OF BIOSOCIAL SCIENCE, VOLUME: 33, ISSUE: 3

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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

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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

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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

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TITLE: Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
AUTHORS: Fonknechten, N; Mavel, D; Byrne, P; Davoine, CS; Cruaud, C; Boentsch, D; Samson, D; Coutinho, P ; Hutchinson, M; McMonagle, P; Burgunder, JM; Tartaglione, A; Heinzlef, O; Feki, I; Deufel, T; Parfrey, N; Brice, A; Fontaine, B; Prud'homme, JF; Weissenbach, J; Durr, A; Hazan, J; ...More
PUBLISHED: 2000, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 9, ISSUE: 4

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