Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-Tooth type 2E (CMT2E) present early and chronic axonal neuropathy
Dennis O. Pérez‐López, Audrey A. Shively, F. Javier Llorente Torres, Mohammed T. Abu-Salah, Michael L. Garcia, William David Arnold, Monique A. Lorson, Christian L. Lorson
This study creates and characterizes Nefl E397K mouse models of CMT2E, showing early axonal neuropathy and electrophysiological abnormalities.
Human Molecular Genetics · Jun 27, 2025Peer-reviewedNeuroscience