What is the role of TDP-43 in C9orf72-related amyotrophic lateral sclerosis and frontemporal dementia?
The C9orf72 hexanucleotide repeat expansion mutation is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), accounting for up to 12% of all patients in an average ALS clinic population. At post-mortem, patients with the C9orf72 hexanucleotide repea...
| Main Authors: | , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Oxford University Press
2016
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