Associated Papers
Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.
Aynaashe A et al.
Amino Acids, 2026
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Clinical genetics of Charcot-Marie-Tooth disease.
Higuchi Y et al.
Journal of Human Genetics, 2023
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
Evaluation of FGFR targeting in breast cancer through interrogation of patient-derived models.
Chew NJ et al.
Breast Cancer Research : Bcr, 2021
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.
Abati E et al.
Annals of Clinical and Translational Neurology, 2021
[Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis].
Chen J et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2021
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.
Ferese R et al.
Frontiers in Genetics, 2021
Mutations in HspB1 and hereditary neuropathies.
Muranova LK et al.
Cell Stress & Chaperones, 2020
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.
Campagnolo M et al.
Journal of the Peripheral Nervous System : Jpns, 2020
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
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
Proline isomerization in the C-terminal region of HSP27.
Alderson TR et al.
Cell Stress & Chaperones, 2017
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.
Capponi S et al.
Human Mutation, 2016