Charlotte Sumner

19PUBLICATIONS
98CO-AUTHORS
Neurology and neuromuscular diseasesInfant and child healthCraniofacial biologyFluid-structure interaction and aeroacousticsMolecular targets
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Publications (19)

|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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