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
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
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.
Sainio MT et al.
Neurology. Genetics, 2018
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew AP et al.
Molecular Genetics & Genomic Medicine, 2015
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