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C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?
A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved manner. Proposed mechanisms involve gain-of-functions, comprising RNA and protein toxicity, and loss-of-function of the...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer Berlin Heidelberg
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7547039/ https://www.ncbi.nlm.nih.gov/pubmed/32876811 http://dx.doi.org/10.1007/s00401-020-02214-x |