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
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
Molecular basis of axonal dysfunction and traffic impairments in CMT.
Gentil BJ et al.
Brain Research Bulletin, 2012
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
Yum SW et al.
Annals of Neurology, 2009
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
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