Associated Papers
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
Della Marina A et al.
Journal of Neuromuscular Diseases, 2024
Effect of Neurodegenerative Mutations in the NEFL Gene on Thermal Denaturation of the Neurofilament Light Chain Protein.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2023
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 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
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
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
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
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
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
Yum SW et al.
Annals of Neurology, 2009
Neuronal intermediate filaments and neurodegenerative disorders.
Perrot R et al.
Brain Research Bulletin, 2009
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
Abe A et al.
Journal of Human Genetics, 2009
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