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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
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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
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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:
Moreira, MD
Barbot, C
Tachi, N
Kozuka, N
Mendonca, P
Barros, J
Coutinho, P
Sequeiros, J
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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
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Hayes, S
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Arvidsson, K
Dias, A
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Maciel, P
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Soong, BW
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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
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Citation: N. Fonknechten et al., Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia, HUM MOL GEN, 9(4), 2000, pp. 637-644
Authors:
Silveira, I
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Guimaraes, L
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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
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Chorao, R
Lourenco, E
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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