Author
UCL Queen Square Institute of NeurologyORCID 0000-0003-2653-5698Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Rebecca L. Simkin, Andrew Paul Tosolini, Alla Mikheenko…·Nicol Birsa
This study identifies sex-dependent motor neuron dysfunction and cargo-specific axonal transport impairments in FUS-ALS mice, linking endosomal transport defects to denervation in ALS.
Carmelo Milioto, Mireia Carcolé, Matteo Zanovello…·Adrian M. Isaacs
This study creates (GA)400 knock-in mice to model C9orf72 polyGA expression, finding mild motor dysfunction and proteomic changes in the spinal cord.
Carmelo Milioto, Mireia Carcolé, Ashling Giblin…·Adrian M. Isaacs
The paper generates C9orf72 DPR knock-in mice and identifies an extracellular matrix signature in C9ALS/FTD that is conserved across species and protected by TGF-β1 and COL6A1.