Associated Papers
Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models.
Rizzuti M et al.
Stem Cell Reports, 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
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
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
Della Marina A et al.
Journal of Neuromuscular Diseases, 2024
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
Mutations linked to neurological disease enhance self-association of low-complexity protein sequences.
Zhou X et al.
Science (new York, N.y.), 2022
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction.
Van Lent J et al.
Brain : a Journal of Neurology, 2021
Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations.
Müller JS et al.
Brain : a Journal of Neurology, 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
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
Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory.
Liao CH et al.
Diagnostics (basel, Switzerland), 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
Functions and therapeutic potential of protein phosphatase 1: Insights from mouse genetics.
Ferreira M et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2019
Defects in Axonal Transport in Inherited Neuropathies.
Beijer D et al.
Journal of Neuromuscular Diseases, 2019
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2.
Bian X et al.
Neuro-degenerative Diseases, 2018
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Rebelo AP et al.
American Journal of Human Genetics, 2016
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 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
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
Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.
Srivastava AK et al.
Neurobiology of Disease, 2012
Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease.
Gentil BJ et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012
Neurofilamentopathy in neurodegenerative diseases.
Liu Q et al.
The Open Neurology Journal, 2011
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Lin KP et al.
Plos One, 2011
Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.
Dequen F et al.
Human Molecular Genetics, 2010
Neuronal intermediate filaments and neurodegenerative disorders.
Perrot R et al.
Brain Research Bulletin, 2009
Mitochondrial and axonal abnormalities precede disruption of the neurofilament network in a model of charcot-marie-tooth disease type 2E and are prevented by heat shock proteins in a mutant-specific fashion.
Tradewell ML et al.
Journal of Neuropathology and Experimental Neurology, 2009
The effect of rod domain A148V mutation of neurofilament light chain on filament formation.
Lee IB et al.
Bmb Reports, 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
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Miltenberger-Miltenyi G et al.
Archives of Neurology, 2007
New movements in neurofilament transport, turnover and disease.
Barry DM et al.
Experimental Cell Research, 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
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
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.
Andrigo C et al.
Neurogenetics, 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
Functions of intermediate filaments in neuronal development and disease.
Lariviere RC et al.
Journal of Neurobiology, 2004