Associated Papers
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.
Tedesco B et al.
European Journal of Human Genetics : Ejhg, 2025
40467930 (PubMed )
Supplement: 41431_2025_1868_MOESM1_ESM.pdf
Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies.
Yang G et al.
Journal of Human Genetics, 2025
39548192 (PubMed )
Supplement: 10038_2024_1305_MOESM1_ESM.docx
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Tedesco B et al.
Autophagy, 2023
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
35281256 (PubMed )
Supplement: DataSheet1.docx
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.
Inoue-Shibui A et al.
Journal of Human Genetics, 2021
Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.
Martin PB et al.
Brain Research, 2020
New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.
Al-Tahan S et al.
Neurology. Genetics, 2019
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
Echaniz-Laguna A et al.
Acta Neuropathologica, 2017
Select a paper to view details