Very pleased to have our work on movement disorders in children with CLN2-Batten disease published in the @GreenJournal Read it open-access here: doi.org/10.1212/WNL.00… @DrAudreySoo @DNP_ICH
www.neurology.org Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacem... ObjectivesNeuronal ceroid lipofuscinosis type 2 (CLN2-disease) is an inherited childhood-onset neurodegenerative condition, with classical early features of speech delay, epilepsy, myoclonus, ataxia,... Latest posts 5
Very pleased to publish this letter about one of our patients who has movement disorder w/o epilepsy, we think due to a stop-loss variant in STXBP1. Get in touch, especially if you have other stop-losses, to help us re-classify the VUS! doi.org/10.1002/mdc3.1…
Very pleased to have our review published on Inherited Disorders of Neurodegeneration with Brain Iron Accumulation, with @DrAudreySoo, Prof Manju Kurian, Dr Penny Hogarth, and Prof Hayflick @DNP_ICH : tremorjournal.org/article/10.533…
I highly recommend this @EBIBristol primer as a way to access to research, especially if like me as a late starter you missed the academic training programmes. Very pleased to have just started my PhD @DNP_ICH on the back of it!
Are you considering a career as a clinical academic but want to experience life as a researcher first? Find out more about the @EBIBristol Clinical Primer scheme, aimed at medics, vets and dentists. Open now, closes 23 October 2020: bristol.ac.uk/blackwell/fund… #ResearchJobs pls shareView quoted post on X