Monique A. Lorson

The Ighmbp2-R604X mouse recapitulates the severe SMARD1 clinical symptoms of aspiration, respiratory and feeding deficits

This paper describes a mouse model of SMARD1 with severe respiratory and feeding deficits, demonstrating milk aspiration and reduced survival.

Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-Tooth type 2E (CMT2E) present early and chronic axonal neuropathy

This study creates and characterizes Nefl E397K mouse models of CMT2E, showing early axonal neuropathy and electrophysiological abnormalities.

The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E

This paper characterizes motor function deficits, muscle pathology, and breathing abnormalities in NeflE397K mice, showing progressive disease severity with genotype.