×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
Biomarker
disease
BEFREE
Charcot-Marie-Tooth disease Type 2E /1F (CMT2E /1F) is a peripheral neuropathy caused by mutations in neurofilament protein L (NFL), which is one of five neurofilament subunit proteins that co-assemble to form neurofilaments in vivo.
31574566
2019
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
26645395
2016
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
27549087
2016
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.
27206872
2016
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
25877835
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
BEFREE
Cytoskeletal abnormalities were found in neurons from a CMT2E (NEFL ) patient and corroborated by a mouse model of the same NEFL point mutation.
25448007
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
26109717
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
UNIPROT
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
25802885
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
Biomarker
disease
MGD
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
25552649
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
25552649
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
25448007
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
24887401
2014
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
BEFREE
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E .
24887401
2014
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
Biomarker
disease
GENOMICS_ENGLAND
Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol.
23618875
2013
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E.
22288874
2012
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
22206013
2011
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.
21493625
2011
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
UNIPROT
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
22206013
2011
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
BEFREE
Mutations in neurofilament light (NF-L ) have been linked to Charcot-Marie-Tooth disease type 2E (CMT2E ) in humans.
21493625
2011
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
21840889
2011
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
19158810
2009
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
17052987
2007
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
UNIPROT
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
17052987
2007
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
14733962
2004
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
UNIPROT
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
15241803
2004