Simon Lowe
@satlowe.bsky.social
Drosophilist at UCL IoN, mostly developmental movement disorders and critical periods
Reposted by Simon Lowe
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
February 21, 2025 at 11:34 AM
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...
Reposted by Simon Lowe
FYI: we will be hosting the inaugural UCL Dystonia Day, on May 14th!
This Symposium will showcase the latest research into defining dystonia patho-mechanisms and identifying novel treatments for this debilitating disease.
www.ucl.ac.uk/ion/events/2...
This Symposium will showcase the latest research into defining dystonia patho-mechanisms and identifying novel treatments for this debilitating disease.
www.ucl.ac.uk/ion/events/2...
Inaugural UCL Dystonia Day symposium
www.ucl.ac.uk
February 12, 2025 at 1:54 PM
FYI: we will be hosting the inaugural UCL Dystonia Day, on May 14th!
This Symposium will showcase the latest research into defining dystonia patho-mechanisms and identifying novel treatments for this debilitating disease.
www.ucl.ac.uk/ion/events/2...
This Symposium will showcase the latest research into defining dystonia patho-mechanisms and identifying novel treatments for this debilitating disease.
www.ucl.ac.uk/ion/events/2...