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Autor:
Lubov Blumkin, Tal Kopler, Teisha Y. Bradshaw, Dvir Dahari, J. Paul Chapple, Marina Michelson, Tally Lerman-Sagie, Dorit Lev, Esther Leshinsky-Silver
Publikováno v:
European Journal of Paediatric Neurology. 19:472-476
Background ARSACS (autosomal–recessive spastic ataxia of Charlevoix-Saguenay) is a neurodegenerative disorder caused by SACS gene mutations and characterized by a triad of symptoms: early-onset cerebellar ataxia, spasticity and peripheral neuropath