The laboratory of Ricardo Roda, M.D., Ph.D., focuses on both acquired and genetic disorders of muscle and the neuromuscular junction. Primarily, Dr. Roda and his team works on the identification of new antigens in myasthenia gravis and in determining their mechanism of pathogenesis. We are also interested in genetic disorders of muscle, in particular those that may affect micro-RNA processing and sarcoplasmic reticulum shaping.
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Palma, J.-A., Roda, R., Norcliffe-Kaufmann, L., & Kaufmann, H. (2015). Increased frequency of rhabdomyolysis in familial dysautonomia. Muscle & Nerve.
Hirst, J., Edgar, J. R., Esteves, T., Darios, F., Madeo, M., Chang, J., Robinson, M. S. (2015). Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. Human Molecular Genetics.
Roda, R. H., Schindler, A. B., Blackstone, C., Mammen, A. L., Corse, A. M., & Lloyd, T. E. (2014). Laing distal myopathy pathologically resembling inclusion body myositis. Annals of Clinical and Translational Neurology, 1(12), 1053–1058.
Roda, R. H., Rinaldi, C., Singh, R., Schindler, A. B., & Blackstone, C. (2014). Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage. Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia, 21(9), 1627–1631.
Vester, A., Velez-Ruiz, G., McLaughlin, H. M., NISC Comparative Sequencing Program, Lupski, J. R., Talbot, K., … Antonellis, A. (2013). A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutation, 34(1), 191–199.
Kageyama, Y., Zhang, Z., Roda, R., Fukaya, M., Wakabayashi, J., Wakabayashi, N., … Sesaki, H. (2012). Mitochondrial division ensures the survival of postmitotic neurons by suppressing oxidative damage. The Journal of Cell Biology, 197(4), 535–551.
Roda, R. H., Gallia, G. L., Eberhart, C. G., Weingart, J. D., & Laterra, J. (2009). Epilepsy and temporal lobe injury after skull base proton beam therapy. Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia, 16(9), 1220–1221.
Tan, K., Roda, R., Ostrow, L., McArthur, J., & Nath, A. (2009). PML-IRIS in patients with HIV infection: clinical manifestations and treatment with steroids. Neurology, 72(17), 1458–1464.