Author
National Hospital for Neurology and NeurosurgeryORCID 0000-0001-8093-2139Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Rebecca L. Simkin, Aurélie Paulo-Ramos, Qiuhan Lang…·James N. Sleigh
This study shows that the Gars{Delta}ETAQ mutation in mice causes specific peripheral nerve pathology in motor and sensory neurons, affecting multiple functions and providing a model for CMT2D research.
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.
Oscar G. Wilkins, Max Z. Y. J. Chien, Josette J Wlaschin…·Pietro Fratta
The paper develops TDP-REG, a system using cryptic splicing to enable precise gene therapy activation in diseased neurons for ALS/FTD.