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Simon Lowe

@satlowe.bsky.social

Drosophilist at UCL IoN, mostly developmental movement disorders and critical periods

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Gabriel Aughey@gabrielaughey.bsky.social · 2y ago

I've been a bit slow to post about this, but our work on RBL2-linked disease is now available online in #Brain. We provide a comprehensive characterisation of clinical phenotypes, and explore the neurological function of the #Drosophila orthologue, Rbf. (1/2) doi.org/10.1093/brai...

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

RBL2 dysfunction, which disrupts cell-cycle gene expression, has been linked to a severe neurodevelopmental disorder. Aughey et al. characterize a cohort o

doi.org