Author
UCL Queen Square Institute of NeurologyORCID 0000-0003-4648-2896Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record…·Henry Houlden
The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.
Ghjuvan’Ghjacumu Shackleford, Leandro N. Marziali, Yo Sasaki…·Lawrence G. Wrabetz
The paper develops a P0T124M mouse model of CMT2J neuropathy, showing axonal damage without significant myelin defects and altered axo-glia communication.
Alexander Martin Rossor, James N. Sleigh, Michael Groves…·Giampietro Schiavo
This study shows that loss of BICD2 in muscle drives motor neuron loss in SMALED2 through a non-cell autonomous mechanism involving impaired secretory pathways.