Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeJoshua Scheck, Iván K. Chinn, Adam Jackson et al.|Genetics in Medicine|2021Cited by 35
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Reza Maroofian, Arjan Bouman et al.|Acta Neuropathologica|2023Cited by 22