Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
Charcot-Marie-Tooth Disease
|
0.100 |
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
|
0.100 |
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.
|
29336362 |
2018 |
Charcot-Marie-Tooth Disease
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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 |
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".
|
30286783 |
2018 |
Neuropathy
|
0.100 |
Biomarker
|
group |
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
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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 |
In previous studies, MFN2 mutations have been linked to neurological disorders including CMT type 2 (CMT2).
|
26956144 |
2016 |
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
CMT is a group of heterogeneous motor and sensory neuropathies divided into demyelinating (CMT1) and axonal forms (CMT2).
|
26989944 |
2016 |
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We suggest that mutation of DGAT2 is the novel underlying cause of an autosomal-dominant axonal CMT2 neuropathy.
|
26786738 |
2016 |
Charcot-Marie-Tooth Disease
|
0.100 |
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
|
0.100 |
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 |
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Exacerbation of neuropathy after injury and identification of gait alterations in combination with previously described pathology suggests that hNF-L(E397K) mice recapitulate many of clinical signs associated with CMT2.
|
26423936 |
2015 |
Charcot-Marie-Tooth Disease
|
0.100 |
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
|
0.100 |
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 |
Growing evidences suggest that GAN is a continuum with the peripheral neuropathy Charcot-Marie-Tooth diseases type 2 (CMT2).
|
24758703 |
2014 |
Charcot-Marie-Tooth Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Otherwise, while demyelinating autosomal recessive CMT used to be classified as CMT4 (A, B, C …), we propose a simplified classification such as AR CMT1 (A, B, C …), and AR CMT2 for axonal forms.
|
25454638 |
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 |