Charlotte Sumner

Affiliations: 
Johns Hopkins University, Baltimore, MD 
Area:
Neuroscience Biology
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"Charlotte Sumner"
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Publications

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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
Crawford TO, Sumner CJ. (2021) Assuring long-term safety of highly effective gene-modulating therapeutics for rare diseases. The Journal of Clinical Investigation. 131
Grunseich C, Sarkar N, Lu J, et al. (2021) Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases. Journal of Neurology, Neurosurgery, and Psychiatry
McCray BA, Diehl E, Sullivan JM, et al. (2021) Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension. Nature Communications. 12: 1444
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
Auslander N, Ramos DM, Zelaya I, et al. (2020) The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases. Molecular Systems Biology. 16: e9701
Sumner CJ, Sumner AJ. (2020) Motor unit gains in treated spinal muscular atrophy patients. Journal of Neurology, Neurosurgery, and Psychiatry
Zaccor NW, Sumner CJ, Snyder SH. (2020) The nonselective cation channel TRPV4 inhibits angiotensin II receptors. The Journal of Biological Chemistry
Woolums BM, McCray BA, Sung H, et al. (2020) TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca. Nature Communications. 11: 2679
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