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NEFL wt Allele

Known as: FLJ53642, NF-L, CMT2E 
Human NEFL wild-type allele is located in the vicinity of 8p21 and is approximately 6 kb in length. This allele, which encodes neurofilament light… Expand
National Institutes of Health

Related topics

Related topics

10 relations
8p21Cell MovementCharcot-Marie-Tooth disease, demyelinating, Type 1FCytokinesis
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Broader (1)

NEFL gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature
Neurofilaments are neuron-specific intermediate filaments essential for the radial growth of axons during development and the… Expand
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2016
2016
Nerve ultrasound in CMT2E/CMT1F due to NEFL mutation: Confirmation of an axonal pathology
 
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2016
2016
Peripheral nervous system alterations in disease and injury
Charcot-Marie-Tooth (CMT) is the most common inherited neuropathy of the PNS affecting approximately 2.8 million people. CMT is… Expand
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2014
2014
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
Mutations in the neurofilament light chain (NEFL) gene mostly cause autosomal dominant axonal Charcot-Marie- Tooth neuropathy… Expand
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2013
2013
14-3-3 proteins interact with neurofilament protein-L and regulate dynamic assembly of neurofilaments
Summary Neurofilament protein-L (NF-L) is the core component of neurofilaments. Recent studies indicate that the NF-L mutations… Expand
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Review
2004
Review
2004
Functions of intermediate filaments in neuronal development and disease.
Five major types of intermediate filament (IF) proteins are expressed in mature neurons: the three neurofilament proteins (NF-L… Expand
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2003
2003
The nNOS inhibitor, AR-R17477AR, prevents the loss of NF68 immunoreactivity induced by methamphetamine in the mouse striatum.
The present study examined the time-course and regionally-selective changes in the levels of the neurofilament protein NF68 in… Expand
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2000
2000
Content change of neurofilament protein subunits in experimental brain diffuse axonal injury by lateral head rotation.
OBJECTIVE: To explore the content change of neurofilament (NF) protein subunits in the experimental brain diffuse axonal injury… Expand
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1996
1996
[Immunohistochemical findings in Huntington's Chorea: report of 9 cases].
The results of an immunohistochemical investigation on neostriatum of 9 cases of Huntington's disease are reported. In all cases… Expand
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1994
1994
Neurofilament 68 and neurofilament 200 protein levels decrease after traumatic brain injury.
We have examined the effect of lateral cortical impact injury on the levels of axonal cytoskeletal proteins in adult rats… Expand
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