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
Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy.
Tezen D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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 and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
Della Marina A et al.
Journal of Neuromuscular Diseases, 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
NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.
Petrucci A et al.
European Neurology, 2023
Neurofilaments in health and Charcot-Marie-Tooth disease.
Kotaich F et al.
Frontiers in Cell and Developmental Biology, 2023
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene.
Choi KE et al.
Journal of Clinical Neurology (seoul, Korea), 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
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J et al.
Bmj Open, 2018
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.
Sainio MT et al.
Neurology. Genetics, 2018
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew AP et al.
Molecular Genetics & Genomic Medicine, 2015