Associated Papers
Charcot-Marie-Tooth disease and related neuropathies.
Burns J et al.
Nature Reviews. Disease Primers, 2026
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Laurini C et al.
Brain : a Journal of Neurology, 2025
PINK1 and Parkin rescue motor defects and mitochondria dysfunction induced by a patient-derived HSPB3 mutant in Drosophila models.
Han JE et al.
Biochemical and Biophysical Research Communications, 2023
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.
Lim SO et al.
Genes, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Small heat shock proteins in neurodegenerative diseases.
Vendredy L et al.
Cell Stress & Chaperones, 2020
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.
Martin PB et al.
Brain Research, 2020
Whole genome sequencing and rare variant analysis in essential tremor families.
Odgerel Z et al.
Plos One, 2019
Terminal Regions Confer Plasticity to the Tetrameric Assembly of Human HspB2 and HspB3.
Clark AR et al.
Journal of Molecular Biology, 2018
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family.
Nam DE et al.
Journal of the Peripheral Nervous System : Jpns, 2018
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene.
Fortunato F et al.
Clinical Neurology and Neurosurgery, 2017
Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.
Adriaenssens E et al.
Brain : a Journal of Neurology, 2017
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function.
Morelli FF et al.
Cell Reports, 2017
HSPB3 protein is expressed in motoneurons and induces their survival after lesion-induced degeneration.
La Padula V et al.
Experimental Neurology, 2016
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.
Lupo V et al.
Frontiers in Molecular Biosciences, 2016
Small Heat Shock Proteins and Distal Hereditary Neuropathies.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2015
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Timmerman V et al.
Genes, 2014
Mutations of small heat shock proteins and human congenital diseases.
Datskevich PN et al.
Biochemistry. Biokhimiia, 2012
The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies.
Boncoraglio A et al.
The International Journal of Biochemistry & Cell Biology, 2012
Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins.
Carra S et al.
Progress in Neurobiology, 2012
Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.
Kolb SJ et al.
Neurology, 2010
Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites.
Benndorf R et al.
Mutation Research. Reviews in Mutation Research, 0