Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
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
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
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
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
A double point mutation in the DNA-binding region of Egr2 switches its function from inhibition to induction of proliferation: A potential contribution to the development of congenital hypomyelinating neuropathy.
Arthur-Farraj P et al.
Neurobiology of Disease, 2006
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Houlden H et al.
Neuromolecular Medicine, 2006
Nab proteins are essential for peripheral nervous system myelination.
Le N et al.
Nature Neuroscience, 2005
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.
Numakura C et al.
Journal of the Neurological Sciences, 2003
Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.
Vandenberghe N et al.
Journal of Medical Genetics, 2002
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.
Bondurand N et al.
Human Molecular Genetics, 2001
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
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
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