DOI,IST REx ID,Research Group,Title of publication
10.1093/brain/awad380,14543,GradSch,Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
10.1093/brain/awac145,12174,GaNo,Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis