Penelope E Bonnen
6PUBLICATIONS
2CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Jun 17, 2026
Genetics of Cerebrotendinous Xanthomatosis.|Jan 31, 2026
Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX.Monte A Del Monte, Jennifer Hanson, Penelope E Bonnen
|Oct 22, 2025
Information Theory Analysis of CTX Shows Consistent Clinical Presentation.Jennifer Hanson, Penelope E Bonnen
|Aug 27, 2025
Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.Jennifer Hanson, Penelope E Bonnen
|Nov 06, 2021
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.Jennifer Hanson, Daniel Brezavar, Susan Hughes
|Aug 27, 2019
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.Lois M Dodson, Alessandro Baldan, Mikael Nissbeck
Pageof 1