Associated Papers
Generation of WTD, a control human iPSC line for genetic research.
Macklin BL et al.
Stem Cell Research, 2025
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
Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy.
Pérez-López DO et al.
Human Molecular Genetics, 2025
The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E.
Pérez-López DO et al.
Human Molecular Genetics, 2025
Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-Tooth type 2E (CMT2E) present early and chronic axonal neuropathy.
Pérez-López DO et al.
Biorxiv : the Preprint Server for Biology, 2025
The Nefl E397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E.
Pérez-López DO et al.
Biorxiv : the Preprint Server for Biology, 2025
Haplotype editing with CRISPR/Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL.
Dua PH et al.
Biorxiv : the Preprint Server for Biology, 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
Clinical and genetic characterization of NEFL-related neuropathy in Taiwan.
Chao HC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.
Kim HJ et al.
Molecular Genetics & Genomic Medicine, 2022
Hereditary neuropathies: A pathological perspective.
Cavallaro T et al.
Journal of the Peripheral Nervous System : Jpns, 2021
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Human Tridimensional Neuronal Cultures for Phenotypic Drug Screening in Inherited Peripheral Neuropathies.
Maciel R et al.
Clinical Pharmacology and Therapeutics, 2020
Yield of next-generation neuropathy gene panels in axonal neuropathies.
Lee DC et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Charcot-Marie-Tooth disease Type 2E/1F mutant neurofilament proteins assemble into neurofilaments.
Stone EJ et al.
Cytoskeleton (hoboken, N.j.), 2019
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 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
Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E.
Lancaster E et al.
Experimental Neurology, 2018
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.
Sainio MT et al.
Neurology. Genetics, 2018
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
Bouhy D et al.
Acta Neuropathologica, 2018
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
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J et al.
Journal of Neurology, 2017
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.
Doppler K et al.
Muscle & Nerve, 2017
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.
Sun B et al.
Journal of the Peripheral Nervous System : Jpns, 2017
Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.
Villalón E et al.
Genes, Brain, and Behavior, 2017
Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.
Lee M et al.
Annals of Neurology, 2017
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).
Claeys KG et al.
Muscle & Nerve, 2016
N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.
Yang Y et al.
Journal of the Neurological Sciences, 2016
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
Berciano J et al.
Journal of Neurology, 2016
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
Pisciotta C et al.
Neurology, 2015