Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene.
Başdemirci M et al.
Molecular Syndromology, 2025
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
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
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
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.
Campagnolo M et al.
Journal of the Peripheral Nervous System : Jpns, 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
Blink reflex role in algorithmic genetic testing of inherited polyneuropathies.
Wang W et al.
Muscle & Nerve, 2017
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T et al.
European Journal of Neurology, 2015
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.
Safka Brožková D et al.
Neuromuscular Disorders : Nmd, 2012
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
Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2.
Briani C et al.
Muscle & Nerve, 2010
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
Mikesová E et al.
Neuromuscular Disorders : Nmd, 2005
Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.
Musso M et al.
Neurobiology of Disease, 2003
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.
Yoshihara T et al.
Journal of the Neurological Sciences, 2001