Index | PMID | Date | Reference |
---|---|---|---|
1 | 23334599 | 2013 | Lax, N. Z., Gnanapavan, S., Dowson, S. J., Alston, C. L., He, L., Polvikoski, T. M., Jaros, E., O'Donovan, D. G., Yarham, J. W., Turnbull, D. M., Dean, A. F., Taylor, R. W. (2013) Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study Journal of Neuropathology and Experimental Neurology . 72 (2): 164-175 . |