|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
In summary, we developed a human tridimensional in vitro system that models length-dependent axonopathies, recapitulates key pathophysiologic features of CMT2E, and should facilitate the identification of new therapeutic compounds for CMT.
|
31715019 |
2019 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
|
19158810 |
2009 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
Early sensory pathology in CMT2E could provide a unifying hypothesis for the convergence of pathology observed in CMT.
|
27643807 |
2017 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Defective transport of the mutant NFL subunits was observed for all the CMT-linked NFL mutations, but the characteristics of this defect also depended on the specific mutation.
|
15282209 |
2004 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Hearing impairment is often linked to CMT due to pathogenic variants of NEFL, especially p.(Glu90Lys) and p.(Asn98Ser), and in our case p.(Glu90Gly).
|
30734407 |
2019 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
|
12566280 |
2003 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
iPSC lines from patients with two distinct forms of axonal CMT (CMT2A and CMT2E) were differentiated into spinal cord motor neurons and used to study axonal structure and function and electrophysiological properties in vitro.
|
25448007 |
2015 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
For example, neurofilament light protein (NEFL) mutants causing Charcot-Marie-Tooth disease induce misassembly of neurofilaments.
|
23618875 |
2013 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
|
17620486 |
2007 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
In the context of inherited neuropathy, giant axons are typically associated with autosomal recessive giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL- and SH3TC2-associated Charcot-Marie-Tooth disease.
|
22734908 |
2012 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
In MPZ-associated CMT, increased CSAs were found in the median nerve at wrist and in the great auricular nerve, whereas it was not increased in patients with NEFL-associated CMT.
|
25091364 |
2015 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We demonstrated that the Charcot-Marie-Tooth-linked neurofilament light mutations: (i) affect the axonal transport of mutant neurofilaments; (ii) have a dominant-negative effect on the transport of wild-type neurofilaments; (iii) affect the transport of mitochondria and the anterograde axonal transport marker human amyloid precursor protein; (iv) result in alterations of retrograde axonal transport and (v) cause fragmentation of the Golgi apparatus.
|
15857389 |
2005 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The variant alleles in the NF-L gene could influence the developing process of CMT phenotype and also might cause CMT phenotype.
|
12477167 |
2002 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (<i>NEFL</i>).
|
28501821 |
2017 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Because the I214M amino acid substitution in the NEFL protein was not detected in a CMT affected brother of the proband, its pathogenic effect became unclear.
|
16930284 |
2006 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that alterations in the formation of a normal IF network in neurons elicited by these NFL mutations may contribute to the development of Charcot-Marie-Tooth neuropathy.
|
12432080 |
2002 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
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
|
0.300 |
Biomarker
|
disease |
BEFREE |
To perform a cross-sectional study to determine whether plasma neurofilament light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease (CMT) and if it correlates with disease severity.
|
29321234 |
2018 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder that has been associated with alterations of several proteins: peripheral myelin protein 22, myelin protein zero, connexin 32, early growth response factor 2, periaxin, myotubularin related protein 2, N-myc downstream regulated gene 1 product, neurofilament light chain, and kinesin 1B.
|
11835375 |
2002 |
|
Hereditary Motor and Sensory Neuropathies
|
0.220 |
GeneticVariation
|
group |
BEFREE |
Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.
|
25583183 |
2014 |
|
Hereditary Motor and Sensory Neuropathies
|
0.220 |
GeneticVariation
|
group |
BEFREE |
The recognized CMT2 genotypes include: CMT2A (mapped to chromosome 1p35-36); CMT2B (3q13-22); CMT2C (with vocal cord paresis); CMT2D (7p14); CMT2E, related to a mutation in the NF-L gene on chromosome 8p21; proximal CMT2, or HMSN P (3q13.1); CMT2 with MPZ mutations; autosomal recessive CMT2 (1q21.2-q21.3); agenesis of the corpus callosum with sensorimotor neuronopathy (15q13-q15); CMT2 X-linked with deafness and mental retardation (Xq24-q26).
|
11231025 |
2001 |
|
Mental Depression
|
0.210 |
Biomarker
|
disease |
BEFREE |
Models examine the relationship of bodily pain, injury as a reason for retirement or not re-signing with a team, length of NFL career, sociodemographic characteristics, chronic conditions, and functional limitations to depression.
|
31522600 |
2020 |
|
Peripheral Neuropathy
|
0.120 |
Biomarker
|
group |
BEFREE |
Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
|
26556829 |
2016 |
|
Peripheral Neuropathy
|
0.120 |
AlteredExpression
|
group |
BEFREE |
Elevated neurofilament light chain (NFL) mRNA levels in prediabetic peripheral neuropathy.
|
24733614 |
2014 |
|
Sensorimotor neuropathy
|
0.110 |
GeneticVariation
|
disease |
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 |