Associated Papers
Neurofilaments in health and Charcot-Marie-Tooth disease.
Kotaich F et al.
Frontiers in Cell and Developmental Biology, 2023
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
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.
Sainio MT et al.
Neurology. Genetics, 2018
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J et al.
Journal of Neurology, 2017
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.
Hashiguchi A et al.
Journal of the Peripheral Nervous System : Jpns, 2014
Molecular basis of axonal dysfunction and traffic impairments in CMT.
Gentil BJ et al.
Brain Research Bulletin, 2012
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
NEFL-related Charcot-Marie-tooth disease: an unraveling story.
Reilly MM
Annals of Neurology, 2009
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
Yum SW et al.
Annals of Neurology, 2009
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