A Disease-specific Transcriptional Biomarker to Functionally Validate Rare Pathogenic Variants in SETX (P6-5.027)
To demonstrate proof-of-concept for the utility of transcriptional profiling as a disease biomarker by functionally validating SETX mutations in patients clinically suspected of having Ataxia with Oculomotor Apraxia Type 2 (AOA2).
Authors
- Kathie J. Ngo (ORCID: https://orcid.org/0000-0002-2092-410X)
- Hane Lee (ORCID: https://orcid.org/0000-0002-4736-0412)
- Brent L. Fogel (ORCID: https://orcid.org/0000-0001-9831-1576)
- Darice Y. Wong
- Alden Huang (ORCID: https://orcid.org/0000-0001-9635-0969)
- Stan F. Nelson
Institutions
- UCLA Health (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000210538
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00