Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
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
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
Widening the phenotypical spectrum of EGR2-related CMT: Unusual phenotype for R409W mutation.
Leonardi L et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2019
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.
Gargaun E et al.
Journal of Neurology, 2016
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
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Szigeti K et al.
Neurogenetics, 2007
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
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
Boerkoel CF et al.
Neurogenetics, 2001
EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression.
Nagarajan R et al.
Neuron, 2001
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
Molecular genetics of inherited peripheral neuropathies: who are the actors?
Meuleman J et al.
Acta Neurologica Belgica, 2000
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
Bellone E et al.
Human Mutation, 1999
Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.
Nelis E et al.
Neurogenetics, 1999
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
Warner LE et al.
Human Molecular Genetics, 1999
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
Timmerman V et al.
Neurology, 1999
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
Nelis E et al.
Human Mutation, 1999
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Warner LE et al.
Nature Genetics, 1998