CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement DisorderSaskia B. Wortmann, Ron A. Wevers, Ania C. Muntau et al.|The American Journal of Human Genetics|2015Cited by 135
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Paolo Moretti, Kirsty McWalter et al.|Genetics in Medicine|2020Cited by 49
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Paolo Moretti, Kirsty McWalter et al.|Genetics in Medicine|2021Cited by 2