Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Brain : a journal of neurology

Frédéric M Vaz, John H McDermott, Mariëlle Alders, …, Michel van Weeghel, Marc Engelen, Siddharth Banka

• DOI: 10.1093/brain/awz291
• PMID: 31637422
• PMCID: PMC6821184