|
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 |
|
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 |
|
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 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in the equivalent human gene, Kif5A, result in similar problems that cause hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth type 2 (CMT2) distal neuropathies.
|
22714410 |
2012 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
This review examines the growing number of identified dHMN genes, discusses recent insights into the functions of these genes and possible pathogenic mechanisms, and looks at the increasing overlap between dHMN and the other neuropathies CMT2 and SMA.
|
21902652 |
2011 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Despite a growing body of evidence concerning the gene structures responsible for genetically heterogenous CMT2B and other CMT2 neuropathies, little is known about the in vitro neuropathy model and how CMT2B-associated mutation-caused aberrant neuritogenesis is properly reversed.
|
20645406 |
2010 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot-Marie-Tooth type 2 (CMT2), a severe autosomal recessive form of neuropathy associated with axonal phenotypes.
|
19381883 |
2009 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Based on electrodiagnostic and morphologic data, the patients were classified as having a CMT2 neuropathy.
|
18826755 |
2009 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Still other mutations cause a neuropathy that presents in adults, with normal nerve conduction velocities, designated as a 'CMT2' form of CMT1B.
|
14711881 |
2004 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Thus, CMT2 neuropathy in this family represents a novel genetic entity that we have designated as CMT2L.
|
15021985 |
2004 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
The CMT2 neuropathy in this family represents a novel genetic entity designated CMT2F.
|
11528513 |
2001 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Charcot-Marie-Tooth neuropathy type II (CMT2) is an axonal neuropathy, also of undetermined cause.
|
7849745 |
1994 |