Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
35863433 (PubMed )
Supplement: mmc4.xlsx › 0_position
Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.
Lupo V et al.
European Journal of Neurology, 2020
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).
Grosz BR et al.
Scientific Reports, 2019
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.
Tozza S et al.
Journal of the Peripheral Nervous System : Jpns, 2019
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T et al.
European Journal of Neurology, 2015
A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease.
Shiga K et al.
Journal of the Peripheral Nervous System : Jpns, 2012
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