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Results: 1-15 |
Results: 15
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
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
A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease - Causing mutations
Authors: Jardim, LB Silveira, I Pereira, ML Ferro, A Alonso, I Moreira, MDC Mendonca, P Ferreirinha, F Sequeiros, J Giugliani, R
Citation: Lb. Jardim et al., A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease - Causing mutations, J NEUROL, 248(10), 2001, pp. 870-876
Evidence of magnetic flux ropes in the solar wind from sigmoidal and non-sigmoidal active regions
Authors: Cid, C Hidalgo, MA Sequeiros, J Rodriguez-Pacheco, J Bronchalo, E
Citation: C. Cid et al., Evidence of magnetic flux ropes in the solar wind from sigmoidal and non-sigmoidal active regions, SOLAR PHYS, 198(1), 2001, pp. 169-177
Neurologic findings in Machado-Joseph disease - Relation with disease duration, subtypes, and (CAG)(n)
Authors: Jardim, LB Pereira, ML Silveira, I Ferro, A Sequeiros, J Giugliani, R
Citation: Lb. Jardim et al., Neurologic findings in Machado-Joseph disease - Relation with disease duration, subtypes, and (CAG)(n), ARCH NEUROL, 58(6), 2001, pp. 899-904
Recessive ataxia with ocular apraxia - Review of 22 Portuguese patients
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
Improvement in the molecular diagnosis of Machado-Joseph disease
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
Homozygosity mapping of portuguese and Japanese forms of ataxia-oculomotorapraxia to 9p13, and evidence for genetic heterogeneity
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
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
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
Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds
Authors: Jardim, LB Pereira, ML Silveira, I Ferro, A Sequeiros, J Giugliani, R
Citation: Lb. Jardim et al., Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds, ACT NEUR SC, 104(4), 2001, pp. 224-231
CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation
Authors: Gaspar, C Jannatipour, M Dion, P Laganiere, J Sequeiros, J Brais, B Rouleau, GA
Citation: C. Gaspar et al., CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation, HUM MOL GEN, 9(13), 2000, pp. 1957-1966
Quiet-time periods observed by EPHIN/SOHO during the minimum of the 22nd solar cycle
Authors: Gomez-Herrero, R Rodriguez-Frias, MD Del Peral, L Sequeiros, J Muller-Mellin, R Kunow, H Sierks, H
Citation: R. Gomez-herrero et al., Quiet-time periods observed by EPHIN/SOHO during the minimum of the 22nd solar cycle, SOLAR PHYS, 194(2), 2000, pp. 405-414
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, 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
Study of three intragenic polymorphisms in the Machado-Joseph disease gene(MJD1) in relation to genetic instability of the (CAG)(n) tract
Authors: Maciel, P Gasper, C Guimaraes, L Goto, J Lopez-Cendes, I Hayes, S Arvidsson, K Dias, A Sequeiros, J Sousa, A Rouleau, GA
Citation: P. Maciel et al., Study of three intragenic polymorphisms in the Machado-Joseph disease gene(MJD1) in relation to genetic instability of the (CAG)(n) tract, EUR J HUM G, 7(2), 1999, pp. 147-156
Charge systematic errors associated with identification methods for heavy-ion Delta E-E telescopes
Authors: Bronchalo, E Medina, J Sequeiros, J Rodriguez-Pacheco, J Del Peral, L
Citation: E. Bronchalo et al., Charge systematic errors associated with identification methods for heavy-ion Delta E-E telescopes, NUCL INST A, 425(1-2), 1999, pp. 361-370
Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30
Authors: Munar-Ques, M Pedrosa, JL Coelho, T Gusmao, L Seruca, R Amorim, A Sequeiros, J
Citation: M. Munar-ques et al., Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30, J MED GENET, 36(8), 1999, pp. 629-632
Risultati: 1-15 |