L. Jardim
MD, Medical Genetics Service
Hospital de Clínicas de Porto Alegre
Rua Ramiro Barcelos 2350
Brazil
Name/email consistency: high
- CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. Jardim, L., Vedolin, L., Schwartz, I.V., Burin, M.G., Cecchin, C., Kalakun, L., Matte, U., Aesse, F., Pitta-Pinheiro, C., Marconato, J., Giugliani, R. J. Inherit. Metab. Dis. (2004)
- Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype. Jardim, L., Silveira, I., Pereira, M.L., do Céu Moreira, M., Mendonça, P., Sequeiros, J., Giugliani, R. Acta Neurol. Scand. (2003)
- Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. Jardim, L.B., Pereira, M.L., Silveira, I., Ferro, A., Sequeiros, J., Giugliani, R. Arch. Neurol. (2001)
- Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds. Jardim, L.B., Pereira, M.L., Silveira, I., Ferro, A., Sequeiros, J., Giugliani, R. Acta Neurol. Scand. (2001)
- A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. Jardim, L.B., Silveira, I., Pereira, M.L., Ferro, A., Alonso, I., do Céu Moreira, M., Mendonça, P., Ferreirinha, F., Sequeiros, J., Giugliani, R. J. Neurol. (2001)