Vaz FM et al. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291. PMID: 31637422.
Vélez-Santamaría V et al. Expanding the clinical and genetic spectrum of PCYT2-related disorders.Brain. 2020 Sep 1;143(9):e76. PMID: 32889549.
De Winter J et al. PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.Brain. 2021 Mar 3;144(2):e17. PMID: 33230519.
Leonardis L et al. Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2.Neurol Genet. 2022 Mar 1;8(2):e658. PMID: 35243002.
