Publications by authors named "Steve Wilton"

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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Steve D Wilton

Brain· September 2025

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Skipping of Duplicated Dystrophin Exons: In Vitro Induction and Assessment.
Kane Greer, Sue Fletcher, Steve D Wilton

Methods Mol Biol· July 2025

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A personalised and comprehensive approach is required to suppress or replenish SNCA for Parkinson's disease.
Dunhui Li, Wai Yan Yau, Shengdi Chen, Steve Wilton, Frank Mastaglia

NPJ Parkinsons Dis· March 2025

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Discovery of Novel Isoforms in Hepatic and Intestinal Cell Models Using Long-Read RNA Sequencing.
Kara Farstad-O'Halloran, Anuradha Sooda, Tooba Iqbal, Steve Wilton, May T Aung-Htut

Genes (Basel)· March 2025

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Antisense oligonucleotides and their applications in rare neurological diseases.
Simon McDowall, May Aung-Htut, Steve Wilton, Dunhui Li

Front Neurosci· September 2024

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Allele-Selective Thiomorpholino Antisense Oligonucleotides as a Therapeutic Approach for Fused-in-Sarcoma Amyotrophic Lateral Sclerosis.
Rita Mejzini, Marvin H Caruthers, Balazs Schafer, Ondrej Kostov, Kavitha Sudheendran, Steve Wilton

Int J Mol Sci· August 2024

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Risk factors associated with surgical site infection following orthopaedic surgery in South Africa and Sub-Saharan Africa: a scoping review protocol.
Zhavandre Van Der Merwe, Steve D Wilton, Kylie Sandy-Hodgetts

J Wound Care· August 2024

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Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations in Exon 10 or 15?
Sasiwimon Utama, Jessica M Cale, Chalermchai Mitrpant, Sue Fletcher, Steve D Wilton

Int J Mol Sci· August 2024

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Down syndrome and DYRK1A overexpression: relationships and future therapeutic directions.
Aidan J Murphy, Steve D Wilton, May T Aung-Htut, Craig S McIntosh

Front Mol Neurosci· July 2024

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Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.
Bal Hari Poudel, Sue Fletcher, Steve D Wilton, May Aung-Htut

Int J Mol Sci· May 2024

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The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Steve D Wilton

medRxiv· March 2024

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Induced alternative splicing an opportunity to study PCSK9 protein isoforms at physiologically relevant concentrations.
Jessica M Cale, Kristin A Ham, Dunhui Li, Craig S McIntosh, Gerald F Watts, Steve D Wilton

Sci Rep· November 2023

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Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
Di Huang, Jennifer A Thompson, Shang-Chih Chen, Abbie Adams, Ianthe Pitout, Steve D Wilton

Exp Eye Res· December 2022

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Targeted Molecular Therapeutics for Parkinson's Disease: A Role for Antisense Oligonucleotides?
Dunhui Li, Frank L Mastaglia, Wai Yan Yau, Shengdi Chen, Steve D Wilton

Mov Disord· November 2022

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Developing Therapeutic Splice-Correcting Antisense Oligomers for Adult-Onset Pompe Disease with c.-32-13T>G Mutation.
Kristin A Ham, Russell D Johnsen, Michel Tchan, Steve D Wilton, May T Aung-Htut

Methods Mol Biol· November 2022

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Pathogenesis and Treatment of Usher Syndrome Type IIA.
Khine Zaw, Livia S Carvalho, May T Aung-Htut, Sue Fletcher, Steve D Wilton

Asia Pac J Ophthalmol (Phila)· September 2022

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Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Niall P Keegan, Steve D Wilton, Sue Fletcher

Front Genet· June 2022

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Antisense Oligonucleotide Induction of the hnRNPA1b Isoform Affects Pre-mRNA Splicing of in SMA Type I Fibroblasts.
Jarichad Toosaranont, Sukanya Ruschadaariyachat, Warasinee Mujchariyakul, Jantarika Kumar Arora, Varodom Charoensawan, Steve D Wilton

Int J Mol Sci· April 2022

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Single Stranded Fully Modified-Phosphorothioate Oligonucleotides can Induce Structured Nuclear Inclusions, Alter Nuclear Protein Localization and Disturb the Transcriptome .
Loren L Flynn, Ruohan Li, Ianthe L Pitout, May T Aung-Htut, Leon M Larcher, Steve D Wilton

Front Genet· April 2022

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Investigating the Implications of Exon Skipping Using a Exon 9 Deleted Mouse Model.
Kelly M Martinovich, Anthony Kicic, Stephen M Stick, Russell D Johnsen, Sue Fletcher, Steve D Wilton

Front Pharmacol· March 2022

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The Impact of Charlson Comorbidity Index on De Novo Cardiac Implantable Electronic Device Procedural Outcomes in the United States.
Mohamed O Mohamed, Harriette G C Van Spall, Carlos Morillo, Steve B Wilton, Evangelos Kontopantelis

Mayo Clin Proc· January 2022

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Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Niall P Keegan, Steve D Wilton, Sue Fletcher

Front Genet· January 2022

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Splice correction therapies for familial hypercholesterolemic patients with low-density lipoprotein receptor mutations.
Craig S McIntosh, Gerald F Watts, Steve D Wilton, May T Aung-Htut

Curr Opin Lipidol· December 2021

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Correction to: Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies.
Dunhui Li, Craig Stewart McIntosh, Frank Louis Mastaglia, Steve Donald Wilton, May Thandar Aung-Htut

Transl Neurodegener· October 2021

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Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies.
Craig S McIntosh, Dunhui Li, Steve D Wilton, May T Aung-Htut

Biomedicines· October 2021

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