Associated Papers
Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease.
Bjelica B et al.
Journal of the Peripheral Nervous System : Jpns, 2026
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Laurini C et al.
Brain : a Journal of Neurology, 2025
Structural-functional relevance of DNAJBs in protein aggregation and associated neurodegenerative diseases.
Fatima S et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Sarparanta J et al.
Human Molecular Genetics, 2023
The roles of HSP40/DNAJ protein family in neurodegenerative diseases.
He Y et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.
Martin PB et al.
Brain Research, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.
Frasquet M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.
Sanchez E et al.
Human Mutation, 2016
Reply: The role of DNAJB2 in amyotrophic lateral sclerosis.
Chen HJ et al.
Brain : a Journal of Neurology, 2016
The role of DNAJB2 in amyotrophic lateral sclerosis.
Frasquet M et al.
Brain : a Journal of Neurology, 2016
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
Lupo V et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.
Lupo V et al.
Frontiers in Molecular Biosciences, 2016
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
Blumen SC et al.
Annals of Neurology, 2012