Associated Papers
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
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
37180992 (PubMed )
Supplement: fcad139_supplementary_data.zip › Supplementary_Table_1_and_Supplementary_References.docx
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
35678958 (PubMed )
Supplement: 12192_2022_1268_MOESM2_ESM.pdf
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
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
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
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