CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
One variant of CMT, 2F, is characterized by mutations in heat shock protein 27 (Hsp27).
|
29133339 |
2018 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
|
29381233 |
2018 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
|
28595321 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
|
28144995 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.
|
28702508 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
|
27816334 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.
|
27862672 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.
|
28379183 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
|
26989944 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
|
26989944 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.
|
25965061 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
|
25547330 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
|
25547330 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Mutations in heat shock 27 kDa protein 1 (HSP27 or HSPB1) cause distal hereditary motor neuropathy (dHMN) or Charcot-Marie-Tooth disease type 2 F (CMT2F) according to unknown factors.
|
26141737 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
|
23963299 |
2014 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
|
25429913 |
2014 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the small heat shock protein HSPB1 (HSP27) are a cause of axonal Charcot-Marie-Tooth neuropathy (CMT2F) and distal hereditary motor neuropathy.
|
23728742 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.
|
23643870 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy.
|
23948568 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
Biomarker
|
disease |
BEFREE |
Mutations in the small heat shock protein HSPB1 (HSP27) are a cause of axonal Charcot-Marie-Tooth neuropathy (CMT2F) and distal hereditary motor neuropathy.
|
23728742 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
|
21892769 |
2012 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.
|
21611841 |
2012 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
|
22734906 |
2012 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.
|
21611841 |
2012 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
|
22176143 |
2011 |