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Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD
A hexanucleotide repeat expansion mutation in the first intron of C9orf72 is the most common known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Since the discovery in 2011, numerous pathogenic mechanisms, including both loss and gain of function, have been proposed. Th...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229688/ https://www.ncbi.nlm.nih.gov/pubmed/34070550 http://dx.doi.org/10.3390/biomedicines9060601 |