CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
|
26645395 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
|
27549087 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.
|
27206872 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
|
25877835 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
|
26109717 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
|
25802885 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
|
25448007 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E.
|
22288874 |
2012 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
|
21840889 |
2011 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
|
17052987 |
2007 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
|
17052987 |
2007 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
|
15241803 |
2004 |