Associated Papers
Haplotype editing with CRISPR-Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL.
Dua PH et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Current Treatment Methods for Charcot-Marie-Tooth Diseases.
Dong H et al.
Biomolecules, 2024
O-GlcNAcylation regulates neurofilament-light assembly and function and is perturbed by Charcot-Marie-Tooth disease mutations.
Huynh DT et al.
Nature Communications, 2023
O-GlcNAcylation regulates neurofilament-light assembly and function and is perturbed by Charcot-Marie-Tooth disease mutations.
Huynh DT et al.
Biorxiv : the Preprint Server for Biology, 2023
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.
Nguyen-Le TH et al.
Brain and Behavior, 2022
Mutations linked to neurological disease enhance self-association of low-complexity protein sequences.
Zhou X et al.
Science (new York, N.y.), 2022
Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.
Kim HJ et al.
Molecular Genetics & Genomic Medicine, 2022
A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.
Stone EJ et al.
Cytoskeleton (hoboken, N.j.), 2021
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease.
Machado R et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2019
Charcot-Marie-Tooth disease Type 2E/1F mutant neurofilament proteins assemble into neurofilaments.
Stone EJ et al.
Cytoskeleton (hoboken, N.j.), 2019
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.
Lerat J et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.
Lee M et al.
Annals of Neurology, 2017
MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.
Choi BO et al.
International Journal of Molecular Medicine, 2011
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
Shin JS et al.
Journal of Human Genetics, 2008
[Charcot-Marie-Tooth disease with early onset. Presentation of a family].
Zellweger H et al.
La Pediatria, 1971