Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
CMT2A, the axonal form, accounts for about one third of all CMT cases.
|
29361379 |
2018 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
We identified a novel stop loss variant in NEFH that is likely pathogenic for CMT2, and the results provide further evidence for the role of an aberrant assembly of neurofilament in CMT.
|
29587262 |
2018 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
We have completed the targeted NGS of 81 IPN genes in a cohort of 123 unrelated patients affected with diverse forms of IPNs, mostly Charcot-Marie-Tooth disease (CMT): 23% CMT1, 52% CMT2, 9% distal hereditary motor neuropathy, 7% hereditary sensory and autonomic neuropathy and 6.5% intermediate CMT.
|
30373780 |
2018 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>KIF5A</i> N-terminal motor domain are known to cause SPG10; An autosomal dominant hereditary spastic paraplegia (HSP), as well as rare Charcot-Marie-Tooth disease 2 (CMT2) cases.
|
30583522 |
2018 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively.
|
29336362 |
2018 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention.
|
29449460 |
2018 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Many of the genes were shared between dHMN and motor CMT2, indicating identical disease mechanisms; therefore, we suggest changing the classification and including dHMN also as a subcategory of Charcot-Marie-Tooth disease.
|
28251916 |
2017 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3.
|
28395795 |
2017 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recently, we identified histone deacetylase 6 (HDAC6), which deacetylates α-tubulin, as a potential therapeutic target in axonal CMT (CMT2).
|
27957719 |
2017 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
According to median motor nerve conduction velocity (MNCV), CMT is divided into demyelinating (CMT1) with MNCV below 38 m/s, axonal (CMT2) with MNCV above 38 m/s, and intermediate CMT with MNCV between 25 and 45 m/s.
|
28364294 |
2017 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth 2A (CMT2A) is an inherited peripheral neuropathy caused by mutations in MFN2, which encodes a mitochondrial membrane protein involved in mitochondrial network homeostasis.
|
27506976 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In previous studies, MFN2 mutations have been linked to neurological disorders including CMT type 2 (CMT2).
|
26956144 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth type 2A disease (CMT2A) is an inherited peripheral neuropathy mainly caused by mutations in the MFN2 gene coding for the mitochondrial fusion protein mitofusin 2.
|
27706887 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease 2A (CMT2A), caused by mutations in the mitofusin 2 gene (MFN2), is the most common CMT2 subtype.
|
26801520 |
2016 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease 2A (CMT2A) is the most common axonal form of peripheral neuropathy caused by a defect in the mitofusin 2 (MFN2) gene, which encodes an outer mitochondrial membrane GTPase.
|
24863639 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CMT2A is an axonal autosomal dominant CMT type which in most cases is characterized by early onset and rather severe course.
|
25847151 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of mitofusin 2 (MFN2) have been recognized to be associated with CMT type 2A (CMT2A).
|
26307494 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
The overlapping clinical manifestation of CMT2 with distal hereditary motor neuropathy (dHMN) and intermediate CMT causes further diagnostic difficulties.
|
26032230 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth 2A (CMT2A) is caused by mutations in mitochondrial fusion protein mitofusin 2 (MFN2).
|
26382835 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
We aimed to establish the importance of HINT1 mutations as the cause of hereditary neuropathy and particularly hereditary motor neuropathy/axonal Charcot-Marie-Tooth (HMN/CMT2) among Czech patients.
|
25342199 |
2015 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Charcot-Marie-Tooth (CMT) diseases include a group of clinically heterogeneous inherited neuropathies subdivided into demyelinating (CMT1), axonal (CMT2) and intermediate CMT forms.
|
24819634 |
2014 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Electroneuromyography revealed an axonal motor and sensory neuropathy in 3 different families, very evocative of type II Charcot-Marie-Tooth (CMT2) disease, although none had mutations in the known CMT2 genes.
|
24804794 |
2014 |
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We analyzed a cohort of 197 index cases and reported the type and frequency of mutations for the whole CMT population and for each electrophysiological group (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]) and for familial and isolated CMT cases.
|
25429913 |
2014 |
Charcot-Marie-Tooth Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Growing evidences suggest that GAN is a continuum with the peripheral neuropathy Charcot-Marie-Tooth diseases type 2 (CMT2).
|
24758703 |
2014 |