Loading...
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset neurological disease resulting from mutations in the SACS gene encoding sacsin, a 4,579-aa protein of unknown function. Originally identified as a founder disease in Québec, ARSACS is now recognized worldwide. Pr...
Na minha lista:
| Main Authors: | , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
National Academy of Sciences
2012
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3277168/ https://ncbi.nlm.nih.gov/pubmed/22307627 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1113166109 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|