Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Lysosomal damage triggers a p38 MAPK-dependent phosphorylation cascade to promote lysophagy via the small heat shock protein HSP27.
Gallagher ER et al.
Current Biology : Cb, 2024
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
Pisciotta C et al.
European Journal of Neurology, 2023
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Gemelli C et al.
Life (basel, Switzerland), 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.
Greenbaum L et al.
Annals of Clinical and Translational Neurology, 2021
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.
Abati E et al.
Annals of Clinical and Translational Neurology, 2021
A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature.
Taga A et al.
Journal of the Peripheral Nervous System : Jpns, 2020
Small heat shock proteins in neurodegenerative diseases.
Vendredy L et al.
Cell Stress & Chaperones, 2020
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
Gentile L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
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
A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.
Amornvit J et al.
Brain and Behavior, 2017
Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.
Lupo V et al.
Frontiers in Molecular Biosciences, 2016
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.
Scarlato M et al.
Journal of the Peripheral Nervous System : Jpns, 2015
Small Heat Shock Proteins and Distal Hereditary Neuropathies.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2015
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
Stancanelli C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.
Gaeta M et al.
Skeletal Radiology, 2012
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