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Results: 1-13 |
Results: 13

Authors: Moreira, MC Barbot, C Tachi, N Kozuka, N Uchida, E Gibson, T Mendonca, P Costa, M Barros, J Yanagisawa, T Watanabe, M Ikeda, Y Aoki, M Nagata, T Coutinho, P Sequeiros, J Koenig, M
Citation: Mc. Moreira et al., The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin, NAT GENET, 29(2), 2001, pp. 189-193

Authors: Heisenberg, CP Houart, C Take-uchi, M Rauch, GJ Young, N Coutinho, P Masai, I Caneparo, L Concha, ML Geisler, R Dale, TC Wilson, SW Stemple, DL
Citation: Cp. Heisenberg et al., A mutation in the Gsk3-binding domain of zebrafish Masterblind/Axin1 leadsto a fate transformation of telencephalon and eyes to diencephalon, GENE DEV, 15(11), 2001, pp. 1427-1434

Authors: Lima, M Smith, MT Silva, C Abade, A Mayer, FM Coutinho, P
Citation: M. Lima et al., Natural selection at the MJD locus: Phenotypic diversity, survival and fertility among Machado-Joseph Disease patients from the Azores, J BIOSOC SC, 33(3), 2001, pp. 361-373

Authors: Barbot, C Coutinho, P Chorao, R Ferreira, C Barros, J Fineza, I Dias, K Monteiro, JP Guimaraes, A Mendonca, P Moreira, MD Sequeiros, J
Citation: C. Barbot et al., Recessive ataxia with ocular apraxia - Review of 22 Portuguese patients, ARCH NEUROL, 58(2), 2001, pp. 201-205

Authors: Maciel, P Costa, MDC Ferro, A Rousseau, M Santos, CS Gaspar, C Barros, J Rouleau, GA Coutinho, P Sequeiros, J
Citation: P. Maciel et al., Improvement in the molecular diagnosis of Machado-Joseph disease, ARCH NEUROL, 58(11), 2001, pp. 1821-1827

Authors: Moreira, MD Barbot, C Tachi, N Kozuka, N Mendonca, P Barros, J Coutinho, P Sequeiros, J Koenig, M
Citation: Md. Moreira et al., Homozygosity mapping of portuguese and Japanese forms of ataxia-oculomotorapraxia to 9p13, and evidence for genetic heterogeneity, AM J HU GEN, 68(2), 2001, pp. 501-508

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
Citation: C. Gaspar et al., Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study, AM J HU GEN, 68(2), 2001, pp. 523-528

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
Citation: N. Fonknechten et al., Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia, HUM MOL GEN, 9(4), 2000, pp. 637-644

Authors: Rocha, S Coutinho, P Barros, A Coimbra, MA Delgadillo, I Cardoso, AD
Citation: S. Rocha et al., Aroma potential of two Bairrada white grape varieties: Maria Gomes and Bical, J AGR FOOD, 48(10), 2000, pp. 4802-4807

Authors: Coutinho, P
Citation: P. Coutinho, Neurogenetics - Three wishes to Santa Claus, ARCH NEUROL, 57(1), 2000, pp. 59-59

Authors: Silveira, I Alonso, I Guimaraes, L Mendonca, P Santos, C Maciel, P de Matos, JMF Costa, M Barbot, C Tuna, A Barros, J Jardim, L Coutinho, P Sequeiros, J
Citation: I. Silveira et al., High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles, AM J HU GEN, 66(3), 2000, pp. 830-840

Authors: Coutinho, P Goodyear, R Legan, PK Richardson, GP
Citation: P. Coutinho et al., Chick alpha-tectorin: molecular cloning and expression during embryogenesis, HEARING RES, 130(1-2), 1999, pp. 62-74

Authors: Coutinho, P Barros, J Zemmouri, R Guimaraes, J Alves, C Chorao, R Lourenco, E Ribeiro, P Loureiro, JL Santos, JV Hamri, A Paternotte, C Hazan, J Silva, MC Prud'homme, JF Grid, D
Citation: P. Coutinho et al., Clinical heterogeneity of autosomal recessive spastic paraplegias - Analysis of 106 patients in 46 families, ARCH NEUROL, 56(8), 1999, pp. 943-949
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