Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
Echaniz-Laguna A et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.
Guan T et al.
Frontiers in Oncology, 2022
36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_3
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
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
Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene.
Fusco C et al.
Acta Bio-medica : Atenei Parmensis, 2019
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 2016
27088055 (PubMed )
Supplement: BRB3-6-e00451-s001.pdf
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
Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation.
Nakamura T et al.
Neurogenetics, 2012
Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients.
Horacek O et al.
Spine, 2007
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
Mikesová E et al.
Neuromuscular Disorders : Nmd, 2005
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