Author

R. W. Burgess

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Open access Oct 2026

The neuropathy-causing GARS1∆ETAQ mutation drives pathology in subsets of motor and sensory neurons in mice.

Together, these experiments show that Gars∆ETAQ/+ mice display robust and selective peripheral nerve pathology that manifests in a general length-dependent fashion, priming this CMT2D allele for testing treatments and evaluating mechanisms underlying peripheral nerve vulnerability.

R. Simkin, A. Paulo-Ramos, Qiu-Han Lang et al. · Progress in neurobiology · 0 citations

Open access Aug 2026

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a

The authors' mice exhibit hallmark features of SPAX11 and CMYO26, but do not show motor neuron degeneration, which makes this model a valuable tool for studying cell-type selective effects of TUBA4A mutations in neurodegeneration and myopathy.

T. Hines, Jonathan R. Funke, S. L. Pratt et al. · Human Molecular Genetics · 0 citations

Open access Jul 2026

The neuropathy-causing GARS1ΔETAQ mutation drives pathology in subsets of motor and sensory neurons in mice

Together, these experiments show that GarsΔETAQ/+ mice display robust and selective peripheral nerve pathology that manifests in a general distal-to-proximal fashion, priming this CMT2D allele for testing treatments and evaluating mechanisms underlying peripheral nerve vulnerability.

R. Simkin, A. Paulo-Ramos, Qiuhan Lang et al. · bioRxiv · 0 citations