Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Ceylan GG et al.
Revista Da Associacao Medica Brasileira (1992), 2023
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
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
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