Charlotte Sumner

Johns Hopkins University, Baltimore, MD 
Neuroscience Biology
"Charlotte Sumner"
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Sullivan JM, Bagnell AM, Alevy J, et al. (2024) Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Science Translational Medicine. 16: eadk1358
Glascock J, Darras BT, Crawford TO, et al. (2023) Identifying Biomarkers of Spinal Muscular Atrophy for Further Development. Journal of Neuromuscular Diseases
Kong L, Hassinan CW, Gerstner F, et al. (2023) Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Acta Neuropathologica Communications. 11: 53
Mercuri E, Sumner CJ, Muntoni F, et al. (2022) Spinal muscular atrophy. Nature Reviews. Disease Primers. 8: 52
Rich KA, Wier CG, Russo J, et al. (2021) Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets. Gene Therapy
Kong L, Valdivia DO, Simon CM, et al. (2021) Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA. Science Translational Medicine. 13
Ravi B, Chan-Cortés MH, Sumner CJ. (2021) Gene-Targeting Therapeutics for Neurological Disease: Lessons Learned from Spinal Muscular Atrophy. Annual Review of Medicine. 72: 1-14
Sumner CJ, Sumner AJ. (2020) Motor unit gains in treated spinal muscular atrophy patients. Journal of Neurology, Neurosurgery, and Psychiatry
Ramos DM, d'Ydewalle C, Gabbeta V, et al. (2019) Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment. The Journal of Clinical Investigation
Pilato CM, Park JH, Kong L, et al. (2019) Motor neuron loss in SMA is not associated with somal stress-activated JNK/c-Jun signaling. Human Molecular Genetics
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