Associated Papers
Studies on the functional role of UFMylation in cells (Review).
Qin R et al.
Molecular Medicine Reports, 2025
Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.
Yasin M et al.
Bmc Neurology, 2024
The UFM1 conjugation system in mammalian development.
Yang S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.
Mattern L et al.
Bone Reports, 2023
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Ni M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
Zhang G et al.
European Journal of Medical Genetics, 2020
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
Di Rocco M et al.
Clinical Genetics, 2018
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