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 and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.
Kavoosi S et al.
Iranian Journal of Public Health, 2025
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
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
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
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Neurofilaments and Neurofilament Proteins in Health and Disease.
Yuan A et al.
Cold Spring Harbor Perspectives in Biology, 2017
Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.
Hashiguchi A et al.
Journal of the Peripheral Nervous System : Jpns, 2014
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
The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy.
Bhagavati S et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2009
The effect of rod domain A148V mutation of neurofilament light chain on filament formation.
Lee IB et al.
Bmb Reports, 2008
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
Shin JS et al.
Journal of Human Genetics, 2008
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
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
Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan.
Yamamoto M et al.
Neurogenetics, 2004
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
Yoshihara T et al.
Journal of the Peripheral Nervous System : Jpns, 2002
[Charcot-Marie-Tooth disease with early onset. Presentation of a family].
Zellweger H et al.
La Pediatria, 1971