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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Reza Maroofian, Eva Medico Salsench et al.|Acta Neuropathologica|2023Cited by 22
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G. Ghosh, Joseph G. Gleeson, Marcello Scala et al.|European Journal of Human Genetics|2020Cited by 18
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, M. Aguennouz, Reza Maroofian et al.|The American Journal of Human Genetics|2023Cited by 8