Associated Papers
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
Towards a functional pathology of hereditary neuropathies.
Weis J et al.
Acta Neuropathologica, 2017
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient.
Fernández RM et al.
Clinical Case Reports, 2016
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.
Gargaun E et al.
Journal of Neurology, 2016
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 2016
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T et al.
European Journal of Neurology, 2015
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.
Yu Z et al.
International Journal of Clinical and Experimental Pathology, 2014
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
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation.
Nakamura T et al.
Neurogenetics, 2012
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Baets J et al.
Brain : a Journal of Neurology, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Szigeti K et al.
Neurogenetics, 2007
Charcot-marie-tooth disease: seventeen causative genes.
Lee JH et al.
Journal of Clinical Neurology (seoul, Korea), 2006
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
Mikesová E et al.
Neuromuscular Disorders : Nmd, 2005
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
Chung KW et al.
Neurogenetics, 2005
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Choi BO et al.
Human Mutation, 2004
Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.
Musso M et al.
Neurobiology of Disease, 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
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 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
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
Fabrizi GM et al.
Acta Neuropathologica, 2000
Molecular genetics of inherited peripheral neuropathies: who are the actors?
Meuleman J et al.
Acta Neurologica Belgica, 2000
5th Workshop of the European CMT Consortium, 69th ENMC International Workshop: therapeutic approaches in CMT neuropathies and related disorders 23-25 April 1999, Soestduinen, The Netherlands.
Martini R et al.
Neuromuscular Disorders : Nmd, 2000
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
Genetic Spectrum of Inherited Neuropathies in India.
Sharma S et al.
Annals of Indian Academy of Neurology, 0