Fantastic new story from @Danamarafi, @LupskiLab, and BCM @GREGoR_research about a peripheral nerve hyperexcitability syndrome caused by loss of the juxtaparanodal protein LGI3 - facial myokymia, distal deformities and diminished reflexes, and DD/ID!
https://t.co/3OXFOMWgkT
Our new work in Robinow Syndrome has been just published. Great collaboration with Chaofan Zhang at the @LupskiLab and Juliana @jumazzeu lab in Brazil.
Our Annals of Neurology paper is online! Congrats to co-first author @isaherman85, @LupskiLab members, and all co-authors @redsquirrel001! #HSP#NDD#neurogenetics 🧵
https://t.co/crPh3npNyl
Late post: Last Thursday we had a gathering of the @LupskiLab and friends. My first time seeing Jim since the panini's start. A good time was had by all.