Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort.
Cavalcanti EBU et al.
Arquivos De Neuro-psiquiatria, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Geroldi A et al.
Pediatric Neurology, 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
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
Argente-Escrig H et al.
Annals of Clinical and Translational Neurology, 2021
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
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
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T et al.
European Journal of Neurology, 2015
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2014
The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.
Reményi V et al.
Ideggyogyaszati Szemle, 2014
Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients.
Koutsis G et al.
Clinical Genetics, 2013
Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.
Kang G et al.
Plos One, 2013
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
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Houlden H et al.
Neuromolecular Medicine, 2006
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
Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness.
McEntagart M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
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
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Mostacciuolo ML et al.
Human Mutation, 2001
A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.
Silvestri G et al.
Neurology, 2000
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
Pareyson D et al.
Neurology, 2000