Associated Papers
Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.
Alhazmi AS et al.
Neurosciences (riyadh, Saudi Arabia), 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
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Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Mutations in HspB1 and hereditary neuropathies.
Muranova LK et al.
Cell Stress & Chaperones, 2020
Small Heat Shock Proteins and Distal Hereditary Neuropathies.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2015
Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.
Nefedova VV et al.
Biochimie, 2013
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
Capponi S et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Abnormal interaction of motor neuropathy-associated mutant HspB8 (Hsp22) forms with the RNA helicase Ddx20 (gemin3).
Sun X et al.
Cell Stress & Chaperones, 2010
Abnormal assemblies and subunit exchange of alphaB-crystallin R120 mutants could be associated with destabilization of the dimeric substructure.
Michiel M et al.
Biochemistry, 2009
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