Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 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
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
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T et al.
European Journal of Neurology, 2015
Autosomal recessive Charcot-Marie-Tooth neuropathy.
Espinós C et al.
Advances in Experimental Medicine and Biology, 2012
Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.
Baloh RH et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009
Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family.
Sahin-Calapoglu N et al.
The International Journal of Neuroscience, 2009
Molecular mechanisms of inherited demyelinating neuropathies.
Scherer SS et al.
Glia, 2008
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
NAB2 represses transcription by interacting with the CHD4 subunit of the nucleosome remodeling and deacetylase (NuRD) complex.
Srinivasan R et al.
The Journal of Biological Chemistry, 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
Autosomal-recessive Charcot-Marie-Tooth diseases.
Vallat JM et al.
Journal of Neuropathology and Experimental Neurology, 2005
[Autosomal recessive forms of Charcot-Marie-Tooth disease].
Vallat JM et al.
Bulletin De L'academie Nationale De Medecine, 2005
Autosomal recessive forms of Charcot-Marie-Tooth disease.
Vallat JM et al.
Current Neurology and Neuroscience Reports, 2004
Disease mechanisms in inherited neuropathies.
Suter U et al.
Nature Reviews. Neuroscience, 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
Clinical features and molecular genetics of hereditary peripheral neuropathies.
Kuhlenbäumer G et al.
Journal of Neurology, 2002
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 2002
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies.
Venken K et al.
Neurogenetics, 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 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