2022
- Reis MC, Patrun J, Ackl N, Winter P, Scheifele M, Danek A, Nolte D. A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions. Front Mol Neurosci. 2022 Apr 14;15:878236. doi: 10.3389/fnmol.2022.878236. PMID: 35493319; PMCID: PMC9048483.