Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
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.
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30373780 |
2018 |
Charcot-Marie-Tooth Disease
|
0.100 |
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.
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29336362 |
2018 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The novel CMT-associated gene mutations broaden the mutation diversity of CMT1.
|
27862672 |
2017 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN).
|
28214652 |
2017 |
Charcot-Marie-Tooth Disease
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening was performed for CMT cases (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]).
|
28286897 |
2017 |
Charcot-Marie-Tooth Disease
|
0.100 |
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
|
0.100 |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Charcot-Marie-Tooth disease (CMT) represents a group of neurodegenerative disorders typically characterised by demyelination (CMT1) or distal axon degeneration (CMT2) of motor and sensory neurons.
|
23840650 |
2013 |
Charcot-Marie-Tooth Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
A molecular diagnosis was achieved in 62.6% of patients with CMT attending the inherited neuropathy clinic; in 80.4% of patients with CMT1 (demyelinating CMT) and in 25.2% of those with CMT2 (axonal CMT).
|
22577229 |
2012 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth type 1C disease (CMT1C) is a rare form of hereditary demyelinating neuropathy caused by mutations in the LITAF (lipopolysaccharide-induced tumor necrosis factor-) gene.
|
23319192 |
2012 |
Charcot-Marie-Tooth Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
CMT1 (motor conduction velocity (MCV) <38 m/s), CMT2 (MCV >38 m/s) and CMT intermediate (MCV 25-45 m/s) were found in 48.2%, 49.4% and 2.4% of the families.
|
20482598 |
2011 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2).
|
20537790 |
2010 |
Charcot-Marie-Tooth Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The point prevalence (January 1, 2007) for all CMT subtypes in Iceland was 12.0/10(5), 10.1/10(5) for CMT1 and 2.0/10(5) for CMT2.
|
19893324 |
2010 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2).
|
19344920 |
2009 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This work extends the understanding of the pathogenesis of Frabin mutation-associated Charcot Marie Tooth (CMT) 4H and suggests that mutations in Frabin should also be considered in ambulant adults with CMT1.
|
19221294 |
2009 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth (CMT) disease is genetically heterogeneous and subdivided into demyelinating (CMT 1) and axonal (CMT 2) types based on neurophysiology findings.
|
19809938 |
2009 |
Charcot-Marie-Tooth Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We found in the present study that LMW slow TnT was significantly upregulated in demyelination form type 1 CMT (CMT1) but not axonal form type 2 CMT (CMT2) muscles.
|
18579801 |
2008 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CMT is usually divided into two large types, about two-thirds of the patients have CMT type 1 (CMT1), that affects the layer of myelin (demyelination).
|
18318003 |
2008 |
Charcot-Marie-Tooth Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Charcot-Marie-Tooth disease (CMT) has been classified into two types: demyelinating forms (CMT1) and axonal forms (CMT2).
|
17437620 |
2007 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease (CMT) is classified into two types, the demyelinating (CMT1) and axonal forms (CMT2).
|
17309650 |
2007 |
Charcot-Marie-Tooth Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mild overlap of clinical features with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1.
|
16775374 |
2006 |
Charcot-Marie-Tooth Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Studies have shown many of these genes, when mutated, can cause a wide range of CMT phenotypes from the relatively mild CMT1 to the more severe Dejerine-Sottas disease and congenital hypomyelinating neuropathy, and even in some cases axonal CMT2.
|
16775366 |
2006 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, SIMPLE/LITAF was shown to be responsible for an autosomal dominant demyelinating form of CMT linked to 16p (CMT1C).
|
15776429 |
2005 |
Charcot-Marie-Tooth Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Charcot-Marie-Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively.
|
15549395 |
2005 |