Charlotte Sumner
19PUBLICATIONS
98CO-AUTHORS
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Publications (19)
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|Feb 03, 2026
High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial.Richard S Finkel, Thomas O Crawford, Eugenio Mercuri
|Jun 30, 2025
Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy.Florian Gerstner, Sandra Wittig, Christian Menedo
|May 14, 2025
Intra-amniotic antisense oligonucleotide treatment improves phenotypes in preclinical models of spinal muscular atrophy.Beltran Borges, Stephen M Brown, Wan-Jin Chen
|May 09, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants.Kailee S Ward, Christopher P Ptak, Natalya Pashkova
|May 22, 2024
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.Jeremy M Sullivan, Anna M Bagnell, Jonathan Alevy
|Jul 13, 2023
Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity.Benedikt Goretzki, Christoph Wiedemann, Brett A McCray
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Frequent Collaborators
4 joint publications
Brett A McCray
4 joint publications
Lingling Kong
3 joint publications
Richard S Finkel
3 joint publications
Thomas E Lloyd
2 joint publications
Joshua Ross
2 joint publications
Nicholas W Zaccor
2 joint publications
Stephen M Brown
2 joint publications
Jae Hong Park
2 joint publications
Cera W Hassinan
2 joint publications
David O Valdivia
