Author
University College LondonORCID 0000-0002-8885-470XUnclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Dimitri Budinger, Sharmin Alhaque, Ramón González‐Méndez…·Manju A. Kurian
The paper establishes a humanized neuronal model to investigate the effects of manganese dysregulation on neuronal function and disease mechanisms.
Chiara Klöckner, Heinrich Sticht, Pia Zacher…·Konrad Platzer
This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.
Alba Sanchis‐Juan, Marcia Anahí Hasenahuer, James Alexander Baker…·Frances Lucy Raymond
The paper identifies a novel de novo missense variant in GABRA2 associated with EIEE and analyzes structural impacts of seven variants across Cys-loop receptors.