Subject Areas on Research
- A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.
- ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects.
- Identification of a novel risk variant in the FUS gene in essential tremor.
- TLS interaction with NMDA R1 splice variant in retinal ganglion cell line RGC-5.