Associated Papers
Early-onset epileptic encephalopathy combined with cerebellar ataxia: A case report expanding the phenotypic spectrum of UBA5-related disorders.
Mustafa F et al.
Parkinsonism & Related Disorders, 2026
A guide to UFMylation, an emerging posttranslational modification.
Millrine D et al.
The Febs Journal, 2023
The UFM1 conjugation system in mammalian development.
Yang S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Briere LC et al.
Cold Spring Harbor Molecular Case Studies, 2021
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
Cabrera-Serrano M et al.
Journal of Medical Genetics, 2020
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