Associated Papers
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
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
Demyelinating prenatal and infantile developmental neuropathies.
Yiu EM 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
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
Mikesová E et al.
Neuromuscular Disorders : Nmd, 2005
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
Miller C et al.
Annals of Neurology, 2004
Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.
Musso M et al.
Neurobiology of Disease, 2003
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter.
Musso M et al.
Neurobiology of Disease, 2001
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
Boerkoel CF et al.
Neurogenetics, 2001
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