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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...
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| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
National Academy of Sciences
2012
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| Teme: | |
| Online dostop: | 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 |
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