Three cases of neuronal intranuclear inclusion disease (NIID)
Objective: Here, we present three NIID cases. One of them, autopsy was performed. Background: Neuronal intranuclear inclusion disease (NIID)(OMIM 603472) is a neurodegenerative disorder characterized…Functional characterisation and the selective vulnerability of SNCA (A30P) patient-derived midbrain dopaminergic neurons to ER stress
Objective: To functional characterise and phenotype the genetic Parkinson's disease (PD) patient with an A30P point mutation in SNCA using midbrain dopaminergic neurons (mDANs) vs…Heterozygous PINK1 p.G411S mutation increases risk for Parkinson’s disease (PD)
Objective: To investigate the possible disease-association and pathogenic mechanisms of heterozygous PINK1 mutations from a genetic, functional, and structural perspective. Background: It has been postulated…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.