- 2022 - The congenital dyserythropoietic anemias: genetics and pathophysiology
- 2021 - VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis
- 2020 - De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
- 2020 - VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects
- 2019 - Vps4A mediates the localization and exosome release of β-catenin to inhibit epithelial-mesenchymal transition in hepatocellular carcinoma
- 2014 - De novo mutations in moderate or severe intellectual disability
News
- VPS4a was put on the website and the social media platforms of the CeSER A-Center Location University Children’s Hospital St. Josef-Hospital Bochum, Germany
“Kennen Sie das CIMDAG-Syndrom?” - In 2005, Network for Therapy in Rare Epilepsies (NETRE) — was initiated in order to share treatment experiences among clinicians in patients with rare epilepsies. In 2023 VPS4a was included into their catalogue and is now registered in leading genetic institutes which is essentially for diagnosis.
- Unique – Understanding rare chromosome and gene disorder – is a registered charity. This platform was the first who helped finding other families. They are also providing gene disorder guides and explain everything that might be helpful understanding these rare diseases.
Therapy centers that a recommended by parents of this group
Supplements, specific food, etc
Joey on TV
The new guideline is available
