Associated Papers
Deep learning tools predict variants in disordered regions with lower sensitivity.
Luppino F et al.
Bmc Genomics, 2025
A Case Report and Literature Review of Charcot-Marie-Tooth Disease Type 2F in a Family.
Lei Y et al.
Degenerative Neurological and Neuromuscular Disease, 2025
Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.
Naruse H et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Subréville M et al.
European Journal of 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 weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteins.
Alderson TR et al.
The Embo Journal, 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
Mutations in HspB1 and hereditary neuropathies.
Muranova LK et al.
Cell Stress & Chaperones, 2020
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
Small Heat Shock Proteins and Human Neurodegenerative Diseases.
Muranova LK et al.
Biochemistry. Biokhimiia, 2019
Interplay of disordered and ordered regions of a human small heat shock protein yields an ensemble of 'quasi-ordered' states.
Clouser AF et al.
Elife, 2019
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
Tanabe H et al.
Journal of the Peripheral Nervous System : Jpns, 2018
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene.
Fortunato F et al.
Clinical Neurology and Neurosurgery, 2017
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
Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
Kalmar B et al.
Human Molecular Genetics, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A et al.
Human Mutation, 2017
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
Rossor AM et al.
Neuromuscular Disorders : Nmd, 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
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015
Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.
Muranova LK et al.
Plos One, 2015
Mutations of small heat shock proteins and human congenital diseases.
Datskevich PN et al.
Biochemistry. Biokhimiia, 2012
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.
Luigetti M et al.
Journal of the Neurological Sciences, 2010
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.
Houlden H et al.
Neurology, 2008