Associated Papers
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
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
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