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
UBA5 missense variants disrupt UFM1 activation: Structural, dynamic, and functional dissection.
Ai L et al.
International Journal of Biological Macromolecules, 2026
UBA5-epileptic encephalopathy: new patient, a novel variant, and a review of epileptic phenotypes.
Cinnirella C et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Genetic testing in cerebral palsy with clinical and neuroimaging variables.
Tantsis EM et al.
Developmental Medicine and Child Neurology, 2025
40186422 (PubMed )
Supplement: DMCN-67-1443-s005.pdf
Patient-derived models of UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues.
Chen H et al.
Science Translational Medicine, 2025
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Pan X et al.
Elife, 2023
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Pan X et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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