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NEFL wt Allele
Known as:
FLJ53642
, NF-L
, CMT2E
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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…
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National Institutes of Health
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Related topics
Related topics
10 relations
8p21
Cell Movement
Charcot-Marie-Tooth disease, demyelinating, Type 1F
Cytokinesis
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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
J. Lerat
,
C. Magdelaine
,
+6 authors
A. Lia
Journal of the peripheral nervous system
2019
Corpus ID: 73417462
Neurofilaments are neuron‐specific intermediate filaments essential for the radial growth of axons during development and the…
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2016
2016
Peripheral nervous system alterations in disease and injury
Villalón Landeros
,
Eric
2016
Corpus ID: 90357162
Charcot-Marie-Tooth (CMT) is the most common inherited neuropathy of the PNS affecting approximately 2.8 million people. CMT is…
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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.
M. Elbracht
,
J. Senderek
,
+7 authors
S. Rudnik-Schöneborn
Clinical Neuropathology
2014
Corpus ID: 39597499
Mutations in the neurofilament light chain (NEFL) gene mostly cause autosomal dominant axonal Charcot-Marie- Tooth neuropathy…
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2013
2013
14-3-3 proteins interact with neurofilament protein-L and regulate dynamic assembly of neurofilaments
Linqing Miao
,
J. Teng
,
Jiqiang Lin
,
Xianzhi Liao
,
Jianguo Chen
Journal of Cell Science
2013
Corpus ID: 12567117
Summary Neurofilament protein-L (NF-L) is the core component of neurofilaments. Recent studies indicate that the NF-L mutations…
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Review
2004
Review
2004
Functions of intermediate filaments in neuronal development and disease.
R. Lariviére
,
J. Julien
Journal of Neurobiology
2004
Corpus ID: 23673184
Five major types of intermediate filament (IF) proteins are expressed in mature neurons: the three neurofilament proteins (NF-L…
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2003
2003
The nNOS inhibitor, AR‐R17477AR, prevents the loss of NF68 immunoreactivity induced by methamphetamine in the mouse striatum
V. Sánchez
,
M. Zeini
,
+4 authors
M. Colado
Journal of Neurochemistry
2003
Corpus ID: 3254589
The present study examined the time‐course and regionally‐selective changes in the levels of the neurofilament protein NF68 in…
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2002
2002
Oestrogen Regulates Neurofilament Expression in a Subset of Anterior Pituitary Cells of the Adult Female Rat
T. Fiordelisio
,
A. Hernández-Cruz
Journal of neuroendocrinology
2002
Corpus ID: 22640136
It is the prevailing view that the neurohypophysis derives from neural crest while the pituitary's anterior lobe is of ectodermal…
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2000
2000
Content change of neurofilament protein subunits in experimental brain diffuse axonal injury by lateral head rotation.
Xiaosheng He
,
S. Yi
,
Xiang Zhang
,
Z. Fei
,
Jian-ning Zhang
,
Lisun Yang
Chinese journal of traumatology = Zhonghua chuang…
2000
Corpus ID: 37704093
OBJECTIVE: To explore the content change of neurofilament (NF) protein subunits in the experimental brain diffuse axonal injury…
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1996
1996
[Immunohistochemical findings in Huntington's Chorea: report of 9 cases].
S. Galatioto
Pathologica
1996
Corpus ID: 23747202
The results of an immunohistochemical investigation on neostriatum of 9 cases of Huntington's disease are reported. In all cases…
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Highly Cited
1994
Highly Cited
1994
Neurofilament 68 and neurofilament 200 protein levels decrease after traumatic brain injury.
R. Posmantur
,
R. Hayes
,
C. Dixon
,
W. Taft
Journal of Neurotrauma
1994
Corpus ID: 23755483
We have examined the effect of lateral cortical impact injury on the levels of axonal cytoskeletal proteins in adult rats…
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