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
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
Effect of Neurodegenerative Mutations in the NEFL Gene on Thermal Denaturation of the Neurofilament Light Chain Protein.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2023
Clinical genetics of Charcot-Marie-Tooth disease.
Higuchi Y et al.
Journal of Human Genetics, 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
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
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
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
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
Neurofilaments and Neurofilament Proteins in Health and Disease.
Yuan A et al.
Cold Spring Harbor Perspectives in Biology, 2017
Towards a functional pathology of hereditary neuropathies.
Weis J et al.
Acta Neuropathologica, 2017
Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.
Villalón E et al.
Genes, Brain, and Behavior, 2017
Exacerbation of Charcot-Marie-Tooth type 2E neuropathy following traumatic nerve injury.
Villalón E et al.
Brain Research, 2015
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
Adebola AA et al.
Human Molecular Genetics, 2015
Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.
Hashiguchi A et al.
Journal of the Peripheral Nervous System : Jpns, 2014
Considerable post-partum worsening in a patient with CMT2E.
Gentile L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013
Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol.
Gentil BJ et al.
The International Journal of Biochemistry & Cell Biology, 2013
Molecular basis of axonal dysfunction and traffic impairments in CMT.
Gentil BJ et al.
Brain Research Bulletin, 2012
Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E.
Dale JM et al.
Genes, Brain, and Behavior, 2012
Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.
Shen H et al.
Human Molecular Genetics, 2011
Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.
Dequen F et al.
Human Molecular Genetics, 2010
[Patient record: what is Charcot-Marie-Tooth disease?].
Unknown Author
La Revue Du Praticien, 2008
Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.
Butinar D et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2008
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
Shin JS et al.
Journal of Human Genetics, 2008
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1.
Zhai J et al.
Human Molecular Genetics, 2007
New movements in neurofilament transport, turnover and disease.
Barry DM et al.
Experimental Cell Research, 2007
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
Fabrizi GM et al.
Brain : a Journal of Neurology, 2007
Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.
Kabzińska D et al.
Journal of the Peripheral Nervous System : Jpns, 2006
A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
Leung CL et al.
American Journal of Medical Genetics. Part A, 2006
Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants.
Sasaki T et al.
Human Molecular Genetics, 2006
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Houlden H et al.
Neuromolecular Medicine, 2006
Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport.
Pérez-Ollé R et al.
Journal of Neurochemistry, 2005
The cytoskeleton in neurodegenerative diseases.
Cairns NJ et al.
The Journal of Pathology, 2004
Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models.
Perez-Olle R et al.
Human Molecular Genetics, 2004
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
Züchner S et al.
Neuromuscular Disorders : Nmd, 2004