研究类别 |
1. Anikster, Y., Kleta, R., Shaag, A., Gahl, W. A., Elpeleg, O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am. J. Hum. Genet. 69: 1218-1224, 2001. 2. Arif, B., Kumar, K. R., Seibler, P., Vulinovic, F., Fatima, A., Winkler, S., Nurnberg, G., Thiele, H., Nurnberg, P., Jamil, A. Z., Bruggemann, A., Abbas, G., Klein, C., Lohmann, K. A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. JAMA Neurol. 70: 783-787, 2013. 3. Carmi, N., Lev, D., Leshinsky-Silver, E., Anikster, Y., Blumkin, L., Kivity, S., Lerman-Sagie, T., Zerem, A. Atypical presentation of Costeff syndrome--severe psychomotor involvement and electrical status epilepticus during slow wave sleep. Europ. J. Paediat. Neurol. 19: 733-736, 2015. |