Publications by authors named "Charlotte Sumner"

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PROFILING THE TRPV4 ANKYRIN REPEAT DOMAIN INTERACTOME AND ITS DISRUPTION BY NEUROMUSCULAR DISEASE-CAUSING MUTATIONS.
Alexis K Loder, Gage P Kosmanopoulos, William H Aisenberg, Eric Cox, Alexis R Meeker, Charlotte J Sumner

J Biol Chem· December 2025

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Microvascular pathology in the spinal cord of severe spinal muscular atrophy patients.
Hazel Allardyce, Heather Lanz, Benjamin D Lawrence, Thomas O Crawford, Charlotte J Sumner

Res Sq· December 2025

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Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy.
Nicholas C Cottam, Morgan Dowling, Lingling Kong, Michelle Harran Chan-Cortés, Christine J Charvet, Charlotte J Sumner

Brain Pathol· November 2025

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Endoscopic Retrieval of Multiple Elongated Swallowed Foreign Bodies in a Patient With Psychiatric Illness.
Jahnavi Pasila, Charlotte Sumner, Kehkashan Anwar, Mamoon Solkar, Nafees Qureshi

Cureus· November 2025

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Neurofilament Light Chain Levels in a Large Idiopathic Peripheral Neuropathy Cohort.
Simone Thomas, Maaz Khan, Mehmet Can Sari, Xindan Hu, Alexandria Lewis, Charlotte Sumner

J Peripher Nerv Syst· September 2025

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Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy.
Florian Gerstner, Sandra Wittig, Christian Menedo, Sayan Ruwald, Maria J Carlini, Charlotte J Sumner

Brain· September 2025

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Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy.
Christian M Simon, Nicolas Delestrée, Jacqueline Montes, Leonie Sowoidnich, Florian Gerstner, Charlotte J Sumner

Brain· August 2025

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Presymptomatic Treatment of a Genetic Disease with a Small-Molecule Drug.
Charlotte J Sumner

N Engl J Med· August 2025

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In utero genetic therapy: Treatment of early onset neurological disorders before they start.
Beltran Borges, Stephen M Brown, Tippi C MacKenzie, Charlotte J Sumner

Mol Ther· July 2025

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The Progression of Infantile Spinal Muscular Atrophy: Why Gestational Age Matters.
Madeline Aldridge, Charlotte J Sumner

Neurology· July 2025

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Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Kailee S Ward, Christopher P Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A Peterson, Charlotte J Sumner

Brain· June 2025

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Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy.
Florian Gerstner, Sandra Wittig, Christian Menedo, Sayan Ruwald, Maria J Carlini, Charlotte J Sumner

Res Sq· June 2025

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Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of Variants.
Kailee S Ward, Christopher P Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A Peterson, Charlotte J Sumner

medRxiv· May 2025

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Intra-amniotic antisense oligonucleotide treatment improves phenotypes in preclinical models of spinal muscular atrophy.
Beltran Borges, Stephen M Brown, Wan-Jin Chen, Maria T Clarke, Akos Herzeg, Charlotte J Sumner

Sci Transl Med· May 2025

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Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.
Sarah H Berth, Linh Vo, Do Hoon Kwon, Tiffany Grider, Yasmine S Damayanti, Charlotte J Sumner

Brain· February 2025

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TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Gage P Kosmanopoulos, Jack K Donohue, Maya Hoke, Simone Thomas, Margo A Peyton, Charlotte J Sumner

Brain· January 2025

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Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.
Stephen M Brown, Aparna S Ajjarapu, Divya Ramachandra, Laura Blasco-Pérez, Mar Costa-Roger, Charlotte J Sumner

Ann Clin Transl Neurol· November 2024

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The expanding application of antisense oligonucleotides to neurodegenerative diseases.
Charlotte J Sumner, Timothy M Miller

J Clin Invest· October 2024

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A reassessment of spinal cord pathology in severe infantile spinal muscular atrophy: Reassessment of spinal cord pathology.
Hazel Allardyce, Benjamin D Lawrence, Thomas O Crawford, Charlotte J Sumner, Simon H Parson

Neuropathol Appl Neurobiol· October 2024

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Prenatal AAV9-GFP administration in fetal lambs results in transduction of female germ cells and maternal exposure to virus.
Beltran Borges, Antonia Varthaliti, Marisa Schwab, Maria T Clarke, Christopher Pivetti, Charlotte J Sumner

Mol Ther Methods Clin Dev· June 2024

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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, Elvia Mena Avila, Ljubica Mihaljević, Charlotte J Sumner

Sci Transl Med· May 2024

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Intrathecal Gene Therapy for Giant Axonal Neuropathy.
Diana X Bharucha-Goebel, Joshua J Todd, Dimah Saade, Gina Norato, Minal Jain, Charlotte J Sumner

N Engl J Med· March 2024

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Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.
Jacqueline Glascock, Basil T Darras, Thomas O Crawford, Charlotte J Sumner, Stephen J Kolb

J Neuromuscul Dis· September 2023

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Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity.
Benedikt Goretzki, Christoph Wiedemann, Brett A McCray, Stefan L Schäfer, Jasmin Jansen, Charlotte J Sumner

Nat Commun· July 2023

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