Associated Papers
Hypomyelinating Leukodystrophy 14 (HLD14)-Related UFC1 p.Arg23Gln Decreases Cell Morphogenesis: A Phenotype Reversable with Hesperetin.
Ichihara Y et al.
Medicines (basel, Switzerland), 2025
A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder.
Han Y et al.
Genes & Genomics, 2024
The Post-Translational Role of UFMylation in Physiology and Disease.
Wang X et al.
Cells, 2023
The UFM1 conjugation system in mammalian development.
Yang S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Grether A et al.
Molecular Genetics & Genomic Medicine, 2023
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
30552426 (PubMed )
Supplement: 41431_2018_299_MOESM1_ESM.docx
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Nahorski MS et al.
Brain : a Journal of Neurology, 2018
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