Associated Papers
Spastic Paraplegia 82 in Two Asian Indian Siblings With PCYT2 Mutations.
Dash A et al.
Journal of Movement Disorders, 2025
PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.
Cikes D et al.
Nature Metabolism, 2023
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2.
Leonardis L et al.
Neurology. Genetics, 2022
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Kaiyrzhanov R et al.
Brain : a Journal of Neurology, 2021
Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders.
Vaz FM et al.
Brain : a Journal of Neurology, 2020
Expanding the clinical and genetic spectrum of PCYT2-related disorders.
Vélez-Santamaría V et al.
Brain : a Journal of Neurology, 2020
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz FM et al.
Brain : a Journal of Neurology, 2019
Select a paper to view details