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44 Publications listed

Huntington disease: somatic expansion, pathobiology and therapeutics

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Published 2025

Huntington's disease (HD)

Brain

HTT

University College London (UCL)

Donaldson J, Hensman Moss D, Ciosi M, Usdin K, Balmus G, Monckton DG, Tabrizi SJ

DOI: 10.1038/s41582-025-01159-7. Online ahead of print.

Citation: Nat Rev Neurol. 2025 Nov 13.

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A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy

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Published 2025

Spinal Muscular Atrophy (SMA)

University of Oxford

Crawford TO, Servais L, Mercuri E, Kölbel H, Kuntz N, Finkel RS, Krueger J, Batley K, Dunaway Young S, Marantz JL, Song G, Yao B, Zhao G, Rossello J, Tirucherai GS, Mazzone ES, Butterfield RJ, Gomez Garcia de la Banda M, Seferian AM, Sansone VA, De Waele L, van der Pol WL, Cances C, Pechmann A, Darras BT, SAPPHIRE Study Group

DOI: 10.1080/14737175.2025.2579903. Online ahead of print.

Citation: Expert Rev Neurother 2025 Nov 13:1-20.

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Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry

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Published 2025

Spinal Muscular Atrophy (SMA)

University of Oxford

Erbaş Y, Servais L, Shieh PB, Goedeker NL, Waldrop MA, Bo R, Raju D, Benguerba K, Reyna SP, Wolff D, Finkel RS

DOI: 10.1177/22143602251395173. Online ahead of print.

Citation: J Neuromuscul Dis. 2025 Nov 11:22143602251395173.

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Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry

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Published 2025

Spinal Muscular Atrophy (SMA)

Brain

SMA Europe, Spierziekten Vlaanderen, Tilburg University, Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, University and University Hospital of Liège, UCLA, Washington University School of Medicine, Nationwide Children's Hospital, The Ohio State University College of Medicine, Kobe University Graduate School of Medicine, Novartis Pharma AG, St Jude Children's Research Hospital

Erbaş Y, Servais L, Shieh PB, Goedeker NL, Waldrop MA, Bo R, Raju D, Benguerba K, Reyna SP, Wolff D, Finkel RS.

10.1177/22143602251395173

Erbaş Y, Servais L, Shieh PB, Goedeker NL, Waldrop MA, Bo R, Raju D, Benguerba K, Reyna SP, Wolff D, Finkel RS. Neuromuscul Dis. 2026 Jul;13(4):788-794. doi: 10.1177/22143602251395173. Epub 2025 Nov 11. PMID: 41217888; PMCID: PMC13434910.

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Synthesis, Biological Activity, and Molecular Dynamics Simulations of LNA-Charge Neutral Linkages for Enhanced Splice-Switching Antisense Oligonucleotides

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Published 2025

Brain, Delivery

University of Oxford

Kennett A, Lie L, Flerin M, Kurt BZ, Baker YR, Hill AC, Ramesh A, Wood MJA, Dhara D, El-Sagheer AH, Duarte F, Brown T

DOI: 10.1002/anie.202511386. Epub 2025 Sep 21.

Citation: Angew Chem Int Ed Engl. 2025 Nov 10;64(46):e202511386.

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