Disease: Charcot-Marie-Tooth disease- Type 2E
- 14-3-3 proteins interact with neurofilament protein-L and regulate dynamic assembly of neurofilaments
- A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E
- A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L
- Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model
- Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E
- Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
- Charcot-Marie-Tooth disease Type 2E/1F mutant neurofilament proteins assemble into neurofilaments
- Charcot-Marie-Tooth Neuropathy Type 2E/1F – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients
- Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E
- Considerable post-partum worsening in a patient with CMT2E
- Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1
- Exacerbation of Charcot-Marie-Tooth type 2E neuropathy following traumatic nerve injury
- Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E
- Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
- Human Tridimensional Neuronal Cultures for Phenotypic Drug Screening in Inherited Peripheral Neuropathies
- Mitochondrial and axonal abnormalities precede disruption of the neurofilament network in a model of charcot-marie-tooth disease type 2E and are prevented by heat shock proteins in a mutant-specific fashion
- Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E
- Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E
- Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
- Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E
- Nerve ultrasound in CMT2E/CMT1F due to NEFL mutation: Confirmation of an axonal pathology
- Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype
- Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation
- Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease
- Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E
- Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E
- Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E
- The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease