HSPB8 Myopathy Library
Case studies
1) Neurology: Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
Ghaoui et al, 2016
2) Neuropathologica: HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy
Echaniz-Laguna et al, 2017
Cortese et al, 2018
4) Neurology genetics: New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy
Al-Tahan et al, 2019
Nicolau et al., 2020
6) A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
Inoue-Shibui et al., 2021
7) A novel c.515delC HSPB8-multisystem proteinopathy associated with inclusion body myopathy with cardiomyopathy Tan et al., 2024
Molecular pathology
Tedesco et al, 2023
Reviews
1) The chaperone-assisted selective autophagy complex dynamics and dysfunctions Tedesco et al., 2023, Autophagy