Associated Papers
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
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
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
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
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
Abe A et al.
Journal of Human Genetics, 2011
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
Abe A et al.
Journal of Human Genetics, 2009
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