Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
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
Antineoplastic agents exacerbating Charcot Marie Tooth disease: red flags to avoid permanent disability.
Ibañez-Juliá MJ et al.
Acta Oncologica (stockholm, Sweden), 2018
Analysis of neural crest cells from Charcot-Marie-Tooth disease patients demonstrates disease-relevant molecular signature.
Kitani-Morii F et al.
Neuroreport, 2017
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T et al.
European Journal of Neurology, 2015
Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation.
Nakamura T et al.
Neurogenetics, 2012
From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.
Scherrer C et al.
Journal of Tissue Engineering, 0
Select a paper to view details