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
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects.
Lin F et al.
Bmc Medical Genomics, 2021
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
The effect of rod domain A148V mutation of neurofilament light chain on filament formation.
Lee IB et al.
Bmb Reports, 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
How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?
Kochański A
Journal of Applied Genetics, 2006
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
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Jordanova A et al.
Brain : a Journal of Neurology, 2003
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