MeCP2, the protein missing or defective in most people with Rett syndrome, contains a specific domain it can use…
Articles by Joana Carvalho, PhD
Impairments in the cerebellum — a brain region responsible for controlling balance and movement coordination — contribute, in part, to…
Despite being safe, one year of treatment with Gilenya (fingolimod) in young girls with Rett syndrome failed to ease…
Patients with milder forms of IQSEC2‐related intellectual disability experience symptoms and have an overall clinical course very similar to those…
Use of PTX-BD4-3, a small molecule that activates a protein receptor involved in a pathway that appears to be impaired…
Walking overground or on a treadmill is suitable as a tool to observe and detect gait changes in people with…
Most animal studies needed to support plans to move AVXS-201 — AveXis’ investigational gene therapy for Rett…
Blocking the activity of pro-inflammatory P2X7 receptors — a class of receptors found in immune cells and in glial…
A form of gene therapy based on providing an unstable version of the MECP2 gene extended survival and improved motor…
The U.S. Food and Drug Administration (FDA) has granted fast track designation to Anavex 2-73 (blarcamesine) for the…