Condition: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F


rs121909112 in HSPB1 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F PMID 28595321 2017 Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.

PMID 27816334 2017 Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

PMID 23643870 2013 Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.

PMID 18832141 2008 Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.

PMID 28702508 2017 Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.

PMID 28144995 2017 Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.

PMID 22176143 2011 HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.

PMID 26989944 2016 Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.

PMID 20870250 2010 A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.

PMID 27862672 2017 Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

PMID 18325928 2008 Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

PMID 15122254 2004 Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

PMID 29381233 2018 Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

PMID 17881652 2007 Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1.

PMID 20178975 2010 Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.

PMID 23963299 2014 Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

PMID 23728742 2013 Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.

PMID 22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PMID 25965061 2015 Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.

PMID 18344398 2008 Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27).

PMID 21892769 2012 SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

PMID 25429913 2014 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

PMID 23948568 2013 Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy.

PMID 25547330 2015 Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.

PMID 21611841 2012 MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.

PMID 22734906 2012 A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.