|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
|
26645395 |
2016 |
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
|
25877835 |
2015 |
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
|
17052987 |
2007 |
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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, DOMINANT INTERMEDIATE G
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
CausalMutation
|
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)
|
|
0.700 |
CausalMutation
|
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)
|
|
0.700 |
CausalMutation
|
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)
|
|
0.700 |
CausalMutation
|
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)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
|
21840889 |
2011 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
CausalMutation
|
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, demyelinating, Type 1F
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
|
15241803 |
2004 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
|
12566280 |
2003 |
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
|
12566280 |
2003 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
|
12477167 |
2002 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Charcot-Marie-Tooth Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
We have analyzed a mouse model of Charcot-Marie-Tooth disease 2E (CMT2E) harboring a heterozygous p.Asn98Ser (p.N98S) Nefl mutation, whose human counterpart results in a severe, early-onset neuropathy.
|
29940160 |
2018 |
|
Charcot-Marie-Tooth Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
Five new unrelated patients with CMT carrying the <i>NEFL</i> mutations P8R and N98S and the novel variant L311P were identified.
|
28501821 |
2017 |
|
Charcot-Marie-Tooth Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia.
|
26645395 |
2016 |
|
Charcot-Marie-Tooth Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
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
|
|
0.050 |
GeneticVariation
|
BEFREE |
In these sequence variants, 5 variants were polymorphisms, including 3 single nucleotide polymorphisms (SNPs), and 3 other missense mutations (Pro22Thr, Asn97Ser and Ala148Val) were found in the patients with CMT phenotype.
|
12477167 |
2002 |
|
Cerebellar Ataxia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Patients with E90K and N98S frequently presented before age 3 years and developed hearing loss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI.
|
28501821 |
2017 |
|
Cerebellar Ataxia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia.
|
26645395 |
2016 |
|
Neuropathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have analyzed a mouse model of Charcot-Marie-Tooth disease 2E (CMT2E) harboring a heterozygous p.Asn98Ser (p.N98S) Nefl mutation, whose human counterpart results in a severe, early-onset neuropathy.
|
29940160 |
2018 |
|
Cerebellar atrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patients with E90K and N98S frequently presented before age 3 years and developed hearing loss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI.
|
28501821 |
2017 |