Clinical, Radiological and Genetic profile of Eight Patients with Genetically Proven Ceroid Lipofuscinosis Neuronal and Movement Disorders
Objective: To study the spectrum of movement disorders phenomenologies (MDs) in genetically proven ceroid lipofuscinosis neuronal (CLNs) Background: MDs are increasingly recognized in the CLNs…Movement disorders in children with progressive myoclonic epilepsies
Objective: To analyze the clinical aspects, radiological features and evolution of myoclonus and other movement disorders (MD) in children with progressive myoclonic epilepsies (PMEs). Background:…The effect of ATP13A2/PARK9 levels on a-syn spreading in mice brains
Objective: The purpose of this study is to analyze the effect of ATP13A2/PARK9-mediated a-syn secretion on a-syn spreading in mice. Background: Recent studies with cell…Clinical presentations of 2 Parkin / lysosomal storage disorder heterozygotes with Parkinson’s disease
Objective: (1) To identify the genetic basis of young-onset or familial Parkinson's disease in South Africa; (2) to clinically characterize the phenotypes observed. Background: Mutations…