OBO ID: DOID:0050950

Citations

(1 total)

Term: autosomal recessive cerebellar ataxia

Mendoza-Ferreira, N., Coutelier, M., Janzen, E., Hosseinibarkooie, S., Löhr, H., Schneider, S., Milbradt, J., Karakaya, M., Riessland, M., Pichlo, C., Torres-Benito, L., Singleton, A., Zuchner, S., Brice, A., Durr, A., Hammerschmidt, M., Stevanin, G., Wirth, B. (2018) Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurology. Genetics. 4:e209