Publications by authors named "Rose Firth"
Article Synopsis
- Cerebral palsy (CP), specifically spastic quadriplegia, can be linked to genetic factors, with mutations in the ADD3 gene found to play a role in some cases.
- A 16-year-old male with spastic diplegia underwent extensive testing, including whole exome sequencing (WES), which identified a biallelic variant in the ADD3 gene associated with inherited cerebral palsy.
- Researchers developed a Drosophila model to study the effects of ADD3 mutations, revealing that alterations in this gene lead to reduced lifespan and impaired movement, providing insights for potential treatments for ADD3-related cerebral palsy.
