S. Wilton

发表

Comprehending the Health Informatics Spectrum: Grappling with System Entropy and Advancing Quality Clinical Research

G. Watts, M. Bellgard, N. Chartres, 2017, Front. Public Health.

Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide

S. Wilton, S. Fletcher, R. Johnsen, 2006, The journal of gene medicine.

Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.

K. Davies, G. Dickson, Annemieke Aartsma-Rus, 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

Revertant fibres: a possible genetic therapy for Duchenne muscular dystrophy?

N. Laing, S. Wilton, D. Dye, 1997, Neuromuscular Disorders.

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene

B. Wong, F. Muntoni, R. Kole, 2012, Molecular therapy. Nucleic acids.

Regulation of eukaryotic gene expression by the untranslated gene regions and other non-coding elements

Sue Fletcher, S. Wilton, S. Fletcher, 2012, Cellular and Molecular Life Sciences.

Fibulin-1 Is Increased in Asthma – A Novel Mediator of Airway Remodeling?

Carolyn Williams, P. Foster, S. Wilton, 2010, PloS one.

The Role of D4Z4-Encoded Proteins in the Osteogenic Differentiation of Mesenchymal Stromal Cells Isolated from Bone Marrow.

K. Sermon, S. Wilton, A. Belayew, 2015, Stem cells and development.

Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy

C. Mann, S. Wilton, S. Fletcher, 2002, The journal of gene medicine.

Gene therapy: therapeutic applications and relevance to pathology

Sue Fletcher, Ian Alexander, John E. J. Rasko, 2011, Pathology.

Targeted SMN Exon Skipping: A Useful Control to Assess In Vitro and In Vivo Splice-Switching Studies

S. Wilton, S. Fletcher, A. Adams, 2021, Biomedicines.

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

C. Mann, S. Wilton, S. Fletcher, 2003, Nature Medicine.

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

I. Graham, K. Bushby, F. Muntoni, 2009, The Lancet Neurology.

Systematic Approach to Developing Splice Modulating Antisense Oligonucleotides

S. Wilton, S. Fletcher, K. Greer, 2019, International journal of molecular sciences.

Antisense Oligonucleotide-Mediated Terminal Intron Retention of the SMN2 Transcript

S. Wilton, S. Fletcher, L. L. Flynn, 2018, Molecular therapy. Nucleic acids.

Induction of revertant fibres in the mdx mouse using antisense oligonucleotides

P. Iversen, S. Wilton, S. Fletcher, 2006, Genetic vaccines and therapy.

Rapid identification of ApoE alleles by multiple-single-strand conformation polymorphism (SSCP) analysis.

S. Wilton, L. Lim, 1995, Trends in genetics : TIG.

Primary over‐expression of AβPP in muscle does not lead to the development of inclusion body myositis in a new lineage of the MCK‐AβPP transgenic mouse

F. Mastaglia, S. Wilton, S. Fletcher, 2013, International journal of experimental pathology.

The Application of Clinical Genetics Dovepress Novel Compounds for the Treatment of Duchenne Muscular Dystrophy: Emerging Therapeutic Agents

S. Wilton, S. Fletcher, 2022 .

The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

S. Wilton, A. Tassin, A. Belayew, 2011, PloS one.

Targeted Suppression of a Dystrophin Pseudo-exon using Antisense Oligonucleotides

B. Wong, K. Flanigan, M. Bellgard, 2014 .

Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis.

F. Mastaglia, S. Wilton, S. Fletcher, 2013, International journal of clinical and experimental pathology.

Long-term administration of antisense oligonucleotides into the paraspinal muscles of mdx mice reduces kyphosis.

S. Wilton, S. Fletcher, R. Johnsen, 2008, Journal of applied physiology.

Progress in the molecular pathogenesis and nucleic acid therapeutics for Parkinson's disease in the precision medicine era

F. Mastaglia, S. Wilton, S. Fletcher, 2020, Medicinal research reviews.

Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping.

K. Davies, R. Kole, A. Goyenvalle, 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

Skipping of Duplicated Dystrophin Exons: In Vitro Induction and Assessment.

S. Wilton, S. Fletcher, K. Greer, 2018, Methods in molecular biology.

Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies

B. Wong, G. Pinniger, S. Wilton, 2016, PloS one.

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient

R. Barrero, M. Bellgard, S. Wilton, 2015, Molecular genetics & genomic medicine.

Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching

R. Kole, S. Wilton, S. Fletcher, 2011, BMC Medical Genetics.

Molecular analysis of a spontaneous dystrophin `knockout' dog

C. Langford, C. Zeiss, J. Kornegay, 1999, Neuromuscular Disorders.

RNA splicing manipulation: strategies to modify gene expression for a variety of therapeutic outcomes.

S. Wilton, S. Fletcher, 2005, Current gene therapy.

Multiple QTLs influencing triglyceride and HDL and total cholesterol levels identified in families with atherogenic dyslipidemias⃞s⃞ The online version of this article (available at http://www.jlr.org) contains an additional four figures. Published, JLR Papers in Press, August 1, 2005. DOI 10.1194/j

D. S. Montgomery, S. Grundy, R. Mahley, 2005, Journal of Lipid Research.

A novel DMD IRES results in a functional N-truncated dystrophin, providing a potential route to therapy for patients with 5’ mutations

M. Uhlén, R. Weiss, D. Dunn, 2014, Nature medicine.

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

M. Uhlén, C. Szigyarto, R. Weiss, 2014, Nature Medicine.

Detection and identification of multiple mycobacterial pathogens by DNA amplification in a single tube.

S. Wilton, D. Cousins, Steve D. Wilton, 1992, PCR methods and applications.

Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52

S. Wilton, S. Fletcher, K. Greer, 2021, International journal of molecular sciences.

A Splice Intervention Therapy for Autosomal Recessive Juvenile Parkinson’s Disease Arising from Parkin Mutations

S. Wilton, S. Fletcher, M. Aung-Htut, 2020, International journal of molecular sciences.

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.

N. Laing, S. Wilton, S. White, 1995, Nature genetics.

Aptamers as therapeutic tools in neurological diseases

S. Wilton, L. Aaldering, S. Krishnan, 2016 .

Primary Nasal Epithelial Cells as a Surrogate Cell Culture Model for Type-II Alveolar Cells to Study ABCA-3 Deficiency

S. Stick, A. Kicic, S. Wilton, 2022, Frontiers in Medicine.

A comparison of genomic coding sequences for feather and scale keratins: structural and evolutionary implications.

D. Parry, S. Wilton, G. Rogers, 1984, The EMBO journal.

Bmc Molecular Biology Antisense Oligonucleotide Induced Exon Skipping and the Dystrophin Gene Transcript: Cocktails and Chemistries

P. Iversen, S. Wilton, S. Fletcher, 2022 .

Induced dystrophin exon skipping in human muscle explants

P. Iversen, H. Moulton, S. Wilton, 2006, Neuromuscular Disorders.

NEAT1 polyA-modulating antisense oligonucleotides reveal opposing functions for both long non-coding RNA isoforms in neuroblastoma

A. Fox, S. Wilton, S. Fletcher, 2020, Cellular and Molecular Life Sciences.

PolyA-modulating antisense oligonucleotides reveal opposing functions for long non-coding RNA NEAT1 isoforms in neuroblastoma

A. Fox, S. Wilton, S. Fletcher, 2020, bioRxiv.

Autosomal dominant distal myopathy: linkage to chromosome 14.

F. Mastaglia, N. Laing, P. Robbins, 1995, American journal of human genetics.

Antisense-mediated splice intervention to treat human disease: the odyssey continues

S. Wilton, S. Fletcher, L. L. Flynn, 2019, F1000Research.

In Vitro Validation of Phosphorodiamidate Morpholino Oligomers

S. Wilton, S. Fletcher, K. West, 2019, Molecules.

Investigation of age-related changes in LMNA splicing and expression of progerin in human skeletal muscles.

F. Mastaglia, S. Wilton, S. Fletcher, 2013, International journal of clinical and experimental pathology.

Butyrylcholinesterase K variant and Alzheimer’s disease

S. Vasikaran, P. Panegyres, C. Mamotte, 1999, Journal of Neurology.

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene.

F. Chen, S. Wilton, S. Fletcher, 2021, Stem cell research.

"Sporadic" motoneuron disease due to familial SOD1 mutation with low penetrance

N. Laing, S. Wilton, G. Suthers, 1994, The Lancet.

Cryptic U2-dependent Pre-mRNASplice Site Usage Induced by Splice Switching Antisense Oligonucleotides

S. Wilton, S. Fletcher, K. Greer, 2021 .

A Cell-Based High-Throughput Screening Assay for Posttranscriptional Utrophin Upregulation

S. Wilton, T. Khurana, N. Soni, 2013, Journal of biomolecular screening.

A novel BRD4-NUT fusion in an undifferentiated sinonasal tumor highlights alternative splicing as a contributing oncogenic factor in NUT midline carcinoma

U. Kees, S. Wilton, K. McCarthy, 2015, Oncogenesis.

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse.

S. Wilton, K. Foust, V. McGovern, 2012, Human molecular genetics.

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

H. Horvitz, Robert H. Brown, R. Orrell, 1996, Neuromuscular Disorders.

The emperor's new dystrophin: finding sense in the noise.

S. Wilton, S. Fletcher, R. Veedu, 2015, Trends in molecular medicine.

Cell-penetrating peptide-morpholino conjugates alter pre-mRNA splicing of DMD (Duchenne muscular dystrophy) and inhibit murine coronavirus replication in vivo.

D. A. Stein, B. Neuman, M. Buchmeier, 2007, Biochemical Society transactions.

Splicing intervention for Duchenne muscular dystrophy.

S. Wilton, S. Fletcher, G. Mcclorey, 2005, Current opinion in pharmacology.

Isolation and characterisation of keratin mRNA from the scale epidermis of the embryonic chick.

S. Wilton, G. Rogers, L. Crocker, 1985, Biochimica et biophysica acta.

Co-regulation of survival of motor neuron and Bcl-xL expression: Implications for neuroprotection in spinal muscular atrophy

F. Mastaglia, S. Boulos, B. Meloni, 2012, Neuroscience.

Morpholino oligomer-mediated exon skipping averts the onset of dystrophic pathology in the mdx mouse.

P. Iversen, H. Moulton, S. Wilton, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials

I. Graham, F. Muntoni, L. Popplewell, 2010, Neuromuscular Disorders.

Enhanced in vivo delivery of antisense oligonucleotides to restore dystrophin expression in adult mdx mouse muscle

S. Wilton, S. Fletcher, K. Wells, 2003, FEBS letters.

The influence of antisense oligonucleotide length on dystrophin exon skipping.

S. Wilton, S. Fletcher, K. Honeyman, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

Antisense oligonucleotide-based drug development for Cystic Fibrosis patients carrying the 3849 + 10 kb C-to-T splicing mutation

B. Kerem, L. Carmel, E. Kerem, 2021, bioRxiv.

Reduction of integrin alpha 4 activity through splice modulating antisense oligonucleotides

S. Wilton, S. Fletcher, R. Johnsen, 2019, Scientific Reports.

Prophylactic oligonucleotide-mediated enhancement of host acetylcholinesterase protects from organophosphate poisoning

H. Soreq, S. Wilton, D. Greenberg, 2011, 2011 Defense Science Research Conference and Expo (DSR).

By‐passing the nonsense mutation in the 4CV mouse model of muscular dystrophy by induced exon skipping

P. Iversen, S. Wilton, S. Fletcher, 2009, The journal of gene medicine.

Evaluation of exon-skipping strategies for Duchenne muscular dystrophy utilizing dystrophin-deficient zebrafish

S. Wilton, P. Currie, S. Berger, 2011, Journal of cellular and molecular medicine.

Morpholino Oligomer-Induced Dystrophin Isoforms to Map the Functional Domains in the Dystrophin Protein

S. Wilton, S. Fletcher, R. Johnsen, 2020, Molecular therapy. Nucleic acids.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2019, JCI insight.

Positioning a Scientific Community on Unproven Cellular Therapies: The 2015 International Society for Cellular Therapy Perspective.

Aaron D. Levine, J. Rasko, C. Mason, 2015, Cytotherapy.

Dystrophin gene transcripts skipping the mdx mutation

N. Laing, S. Wilton, D. Dye, 1997, Muscle & nerve.

Pathogenesis and Treatment of Usher Syndrome Type IIA.

F. Chen, S. Wilton, S. Fletcher, 2022, Asia-Pacific journal of ophthalmology.

Evaluation of a short interspersed nucleotide element in the 3' untranslated region of the defective dystrophin gene of dogs with muscular dystrophy.

S. Wilton, S. Fletcher, K. Carville, 2001, American journal of veterinary research.

Translational development of splice-modifying antisense oligomers

M. Bellgard, S. Wilton, S. Fletcher, 2017, Expert opinion on biological therapy.

Proteomic profiling of antisense‐induced exon skipping reveals reversal of pathobiochemical abnormalities in dystrophic mdx diaphragm

S. Wilton, S. Fletcher, K. Ohlendieck, 2009, Proteomics.

Alternative dystrophin gene transcripts in golden retriever muscular dystrophy

C. Mann, J. Kornegay, S. Schatzberg, 1998, Muscle & nerve.

Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript.

S. Wilton, S. Fletcher, A. Fall, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

Gene therapy and molecular approaches to the treatment of hereditary muscular disorders

S. Wilton, S. Fletcher, J. Howell, 2000, Current opinion in neurology.

Modification of pre-mRNA processing: application to dystrophin expression.

S. Wilton, S. Fletcher, 2006, Current opinion in molecular therapeutics.

Targeted Molecular Therapeutics for Parkinson's Disease: A Role for Antisense Oligonucleotides?

F. Mastaglia, S. Wilton, P. Akkari, 2022, Movement disorders : official journal of the Movement Disorder Society.

Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy

F. Muntoni, Haiyan Zhou, S. Wilton, 2013, PloS one.

NEAT1 polyA-modulating antisense oligonucleotides reveal opposing functions for both long non-coding RNA isoforms in neuroblastoma

T. Liu, A. Fox, S. Wilton, 2020, Cellular and Molecular Life Sciences.

Dystrophin as a therapeutic biomarker: Are we ignoring data from the past?

K. Flanigan, S. Wilton, S. Fletcher, 2014, Neuromuscular Disorders.

Personalised genetic intervention for Duchenne muscular dystrophy: antisense oligomers and exon skipping.

S. Wilton, S. Fletcher, C. Mitrpant, 2009, Current molecular pharmacology.

Rational Design of Short Locked Nucleic Acid-Modified 2′-O-Methyl Antisense Oligonucleotides for Efficient Exon-Skipping In Vitro

S. Wilton, S. Fletcher, R. Veedu, 2017, Molecular therapy. Nucleic acids.

Identification of a point mutation and germinal mosaicism in a duchenne muscular dystrophy family

N. Laing, S. Wilton, B. Kakulas, 1994, Human mutation.

Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy

S. Wilton, S. Fletcher, J. Howell, 2001, Neuromuscular Disorders.

Response to “Railroading at the FDA”

F. Muntoni, S. Wilton, S. Fletcher, 2017, Nature Biotechnology.

Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?

F. Mastaglia, P. Silburn, G. Halliday, 2009, Movement disorders : official journal of the Movement Disorder Society.

Use of polymerase chain reaction for rapid diagnosis of tuberculosis

S. Wilton, D. Cousins, B. Francis, 1992, Journal of clinical microbiology.

Consequences of Making the Inactive Active Through Changes in Antisense Oligonucleotide Chemistries

S. Wilton, S. Fletcher, R. Veedu, 2019, Front. Genet..

Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing

S. Wilton, S. Fletcher, Niall P. Keegan, 2022, Frontiers in Genetics.

Normal and aberrant splicing of LMNA

F. Mastaglia, S. Wilton, Yue-Bei Luo, 2014, Journal of Medical Genetics.

Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies

S. Wilton, M. Aung-Htut, Dunhui Li, 2021, Biomedicines.

Redirecting splicing to address dystrophin mutations: molecular by-pass surgery.

S. Wilton, S. Fletcher, 2006, Progress in molecular and subcellular biology.

A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

E. Haan, N. Laing, S. Wilton, 1995, Nature Genetics.

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

J. Bourke, K. Bushby, F. Muntoni, 2011, The Lancet.

Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle.

I. Graham, F. Muntoni, L. Popplewell, 2007, Human gene therapy.

Functional improvement of dystrophic muscle by repression of utrophin: let-7c interaction

S. Wilton, M. Mishra, T. Khurana, 2017, PloS one.

Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle.

S. Wilton, S. Fletcher, C. J. Mann, 2003, Human molecular genetics.

Optimizing splice-switching oligomer sequences using 2'-O-methyl phosphorothioate chemistry.

S. Wilton, S. Fletcher, C. Adkin, 2012, Methods in molecular biology.

Single Stranded Fully Modified-Phosphorothioate Oligonucleotides can Induce Structured Nuclear Inclusions, Alter Nuclear Protein Localization and Disturb the Transcriptome In Vitro

Leon M Larcher, C. Bond, A. Fox, 2022, Frontiers in Genetics.

Inherited Retinal Disease Therapies Targeting Precursor Messenger Ribonucleic Acid

D. Mackey, F. Chen, S. Wilton, 2017, Vision.

Terminal antisense oligonucleotide modifications can enhance induced exon skipping

S. Wilton, S. Fletcher, R. Johnsen, 2005, Neuromuscular Disorders.

Corrigendum: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1

E. Haan, N. Laing, S. Wilton, 1995, Nature Genetics.

Erratum: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1 (Nature Genetics (1995) 9 (75-79))

E. Haan, N. Laing, S. Wilton, 1995 .

Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD

P. Iversen, H. Moulton, S. Wilton, 2006, Gene Therapy.

Multiple exon skipping strategies to by-pass dystrophin mutations

B. Wong, F. Muntoni, S. Wilton, 2012, Neuromuscular Disorders.

Untranslated Gene Regions and Other Non-coding Elements: Regulation of Eukaryotic Gene Expression

S. Wilton, S. Fletcher, L. Barrett, 2013 .

Use of DNA amplification for the rapid identification of Mycobacterium bovis.

S. Wilton, D. Cousins, B. Francis, 1991, Veterinary microbiology.

Structural Variants May Be a Source of Missing Heritability in sALS

F. Mastaglia, A. Saunders, D. Burns, 2020, Frontiers in Neuroscience.

MicroRNAs regulate tumor angiogenesis modulated by endothelial progenitor cells.

J. Mattick, R. Taft, A. Swarbrick, 2013, Cancer research.

ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

S. Wilton, S. Fletcher, L. L. Flynn, 2019, Front. Neurosci..

Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy

D. Mackey, F. Chen, S. Wilton, 2020, Ophthalmic genetics.

Refined Localisation of the Genes for Nebulin and Titin on Chromosome 2q Allows the Assignment of Nebulin as a Candidate Gene for Autosomal Recessive Nemaline Myopathy

A. Chapelle, M. Ridanpää, K. Pelin, 1997, European journal of human genetics : EJHG.

Erratum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice: (Nature Medicine (2014) 20 (992-1000) DOI:10.1038/nm.3628)

M. Uhlén, C. Szigyarto, R. Weiss, 2015 .

Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.

N. Laing, S. Wilton, R. Johnsen, 1993, American journal of medical genetics.

Target selection for antisense oligonucleotide induced exon skipping in the dystrophin gene

C. Mann, S. Wilton, S. Fletcher, 2003, The journal of gene medicine.

Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides

S. Agrawal, R. Kole, S. Wilton, 1999, Neuromuscular Disorders.

Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease

S. Wilton, S. Fletcher, R. Johnsen, 2020, Scientific Reports.

Stargardt disease and progress in therapeutic strategies

F. Chen, S. Wilton, S. Fletcher, 2021, Ophthalmic genetics.

Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes

Matthew I. Bellgard, Christopher E. Mason, Alan H. Bittles, 2014 .

YAPping about and not forgetting TAZ

M. Finch-Edmondson, S. Wilton, S. Fletcher, 2019, FEBS letters.

Antisense oligonucleotides in the treatment of Duchenne muscular dystrophy: Where are we now?

S. Wilton, S. Fletcher, 2005, Neuromuscular Disorders.

Antisense Oligonucleotides Targeting Angiogenic Factors as Potential Cancer Therapeutics

S. Wilton, S. Fletcher, R. Veedu, 2018, Molecular therapy. Nucleic acids.

Smart functional nucleic acid chimeras: Enabling tissue specific RNA targeting therapy

S. Wilton, S. Fletcher, R. Veedu, 2015, RNA biology.

Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies

F. Mastaglia, S. Wilton, M. Aung-Htut, 2021, Translational neurodegeneration.

Novel Mutations Found in Individuals with Adult-Onset Pompe Disease

S. Wilton, S. Fletcher, M. Aung-Htut, 2020, Genes.

Single Exon Skipping Can Address a Multi-Exon Duplication in the Dystrophin Gene

S. Wilton, S. Fletcher, Y. Nevo, 2020, International journal of molecular sciences.

Breakpoint junction features of seven DMD deletion mutations

S. Wilton, S. Fletcher, Niall P. Keegan, 2019, Human Genome Variation.

Characterization of a complex Duchenne muscular dystrophy–causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping

S. Wilton, S. Fletcher, Mark R. Davis, 2009, Human mutation.

The potential of antisense oligonucleotide therapies for inherited childhood lung diseases

Sue Fletcher, K. Martinovich, S. Stick, 2018, Molecular and Cellular Pediatrics.

A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice.

F. Muntoni, I. Eperon, K. Anthony, 2013, Human gene therapy.

Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.

F. Chen, S. Wilton, S. Fletcher, 2022, Experimental eye research.

Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.

F. Chen, S. Wilton, S. Fletcher, 2021, Stem cell research.

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

I. Constable, F. Chen, S. Wilton, 2020, Molecular genetics & genomic medicine.

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy

F. Mastaglia, N. Laing, J. Hallmayer, 1999, Journal of neurology, neurosurgery, and psychiatry.

Antisense oligonucleotide development for the treatment of muscular dystrophies

S. Wilton, S. Fletcher, R. Veedu, 2016 .

Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse.

C. Mann, A. Cheng, S. Wilton, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Massive Idiosyncratic Exon Skipping Corrects the Nonsense Mutation in Dystrophic Mouse Muscle and Produces Functional Revertant Fibers by Clonal Expansion

S. Wilton, T. Partridge, Q. Lu, 2000, The Journal of cell biology.

Bandstab: a PCR-based alternative to cloning PCR products.

S. Wilton, D. Dye, L. Lim, 1997, BioTechniques.

Induction of cryptic pre-mRNA splice-switching by antisense oligonucleotides

S. Wilton, S. Fletcher, K. Greer, 2021, Scientific Reports.

Removal of the Polyglutamine Repeat of Ataxin-3 by Redirecting pre-mRNA Processing

S. Wilton, S. Fletcher, M. Aung-Htut, 2019, International journal of molecular sciences.

Antisense suppression of donor splice site mutations in the dystrophin gene transcript

B. Wong, F. Muntoni, S. Wilton, 2013, Molecular genetics & genomic medicine.

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

R. Finkel, R. Weiss, C. Anderson, 2008, Annals of neurology.

Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1

S. Wilton, S. Fletcher, M. Aung-Htut, 2020, International journal of molecular sciences.

Exon skipping and Duchenne muscular dystrophy: hope, hype and how feasible?

S. Wilton, S. Fletcher, 2008, Neurology India.

Quantitative linkage genome scan for atopy in a large collection of Caucasian families

K. Barnes, J. Vestbo, P. Helms, 2007, Human Genetics.

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene

K. Flanigan, Hanns Lochmüller, S. Wilton, 2014, Molecular therapy. Nucleic acids.

The influence of non-HLA gene polymorphisms and interactions on disease risk in a Western Australian multiple sclerosis cohort

I. James, F. Christiansen, F. Mastaglia, 2013, Journal of Neuroimmunology.

Analysis of HLA-DRB3 alleles and supertypical genotypes in the MHC Class II region in sporadic inclusion body myositis

I. James, C. Witt, F. Mastaglia, 2013, Journal of Neuroimmunology.

Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping.

F. Mastaglia, S. Wilton, S. Fletcher, 2018, Trends in pharmacological sciences.

Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology

A. Rabinowitz, S. Wilton, T. Partridge, 2006, Nature Medicine.

The Regrowth of Axons within Tissue Defects in the CNS Is Promoted by Implanted Hydrogel Matrices That Contain BDNF and CNTF Producing Fibroblasts

A. Harvey, S. Woerly, S. Wilton, 2001, Experimental Neurology.

Antisense Oligonucleotide Induction of Progerin in Human Myogenic Cells

F. Mastaglia, S. Wilton, S. Fletcher, 2014, PloS one.

Antisense Oligonucleotide Induction of the hnRNPA1b Isoform Affects Pre-mRNA Splicing of SMN2 in SMA Type I Fibroblasts

Varodom Charoensawan, S. Wilton, S. Fletcher, 2022, International journal of molecular sciences.

Revertant Fibers in the mdx Murine Model of Duchenne Muscular Dystrophy: An Age- and Muscle-Related Reappraisal

C. Romualdi, S. Wilton, S. Fletcher, 2013, PloS one.

Challenges of Interpreting Dystrophin Content by Western Blot

S. Wilton, S. Fletcher, R. Johnsen, 2019, US Neurology.

P.240 Dystrophin expression in the non-DMD population: What is normal?

S. Wilton, S. Fletcher, R. Johnsen, 2016, Neuromuscular Disorders.

Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations

F. Muntoni, Jihee Kim, S. Wilton, 2010, Neuromuscular Disorders.

Translational Regulation of Utrophin by miRNAs

S. Wilton, T. Khurana, Utpal Basu, 2011, PloS one.

Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies.

N. Laing, S. Wilton, S. Fletcher, 2011, The Clinical biochemist. Reviews.

Polyglutamine ataxias: From Clinical and Molecular Features to Current Therapeutic Strategies

S. Wilton, S. Fletcher, M. Aung-Htut, 2017 .

Snapback SSCP analysis: Engineered conformation changes for the rapid typing of known mutations

S. Wilton, S. Fletcher, K. Honeyman, 1998, Human mutation.

Dystrophin isoform induction in vivo by antisense-mediated alternative splicing.

H. Moulton, S. Wilton, S. Fletcher, 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach.

K. Flanigan, A. Vulin, S. Wilton, 2017, Journal of neuromuscular diseases.

Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases

J. Joung, C. Barbas, A. Bogdanove, 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

Consensus report of the working group on: 'Molecular and biochemical markers of Alzheimer's disease'

Giovanni B. Frisoni, Alfredo Robles, Takeshi Iwatsubo, 1998 .

Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse Model

K. Martinovich, S. Stick, A. Kicic, 2022, Frontiers in Pharmacology.

Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype

I. James, F. Mastaglia, A. Saunders, 2021, Frontiers in Aging Neuroscience.

A splice-site mutation causing ovine McArdle's disease

N. Laing, S. Wilton, P. Akkari, 1997, Neuromuscular Disorders.

Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation.

N. Laing, D. Callen, S. Wilton, 1995, Cytogenetics and cell genetics.

Correcting the NLRP3 inflammasome deficiency in macrophages from autoimmune NZB mice with exon skipping antisense oligonucleotides

D. Sester, K. Stacey, S. Wilton, 2016, Immunology and cell biology.

Complement-mediated muscle cell lysis: A possible mechanism of myonecrosis in anti-SRP associated necrotizing myopathy (ASANM)

F. Mastaglia, S. Wilton, C. Mitrpant, 2013, Journal of Neuroimmunology.

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.

N. Laing, S. Wilton, S. White, 1995, Nature genetics.

Apolipoprotein E and Alzheimer's disease

S. Wilton, B. Kakulas, Steve D. Wilton, 1995 .

Interaction of modified oligonucleotides with nuclear proteins, formation of novel nuclear structures and sequence-independent effects on RNA processing

A. Fox, S. Wilton, S. Fletcher, 2018, bioRxiv.

The use of antisense oligonucleotide-mediated exon skipping to treat spinocerebellar ataxia type 3

S. Wilton, S. Fletcher, M. Aung-Htut, 2018 .

Mutation segregation and rapid carrier detection of X-linked muscular dystrophy in dogs.

W. T. Bartlett, R. Bartlett, J. Kornegay, 1996, American journal of veterinary research.

Splice correction therapies for familial hypercholesterolemic patients with low-density lipoprotein receptor mutations

G. Watts, S. Wilton, M. Aung-Htut, 2021, Current opinion in lipidology.

Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease

S. Wilton, S. Fletcher, R. Johnsen, 2020, Scientific Reports.

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

I. Graham, F. Muntoni, P. Nihoyannopoulos, 2009, The Lancet. Neurology.

Rational design of antisense oligomers to induce dystrophin exon skipping.

F. Muntoni, S. Wilton, S. Fletcher, 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.

K. Bushby, F. Muntoni, K. Anthony, 2011, Lancet.

Induction of revertant fibres in the mdx mouse using antisense oligonucleotides

P. Iversen, S. Wilton, R. Johnsen, 2006, Genetic vaccines and therapy.

Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents

S. Wilton, S. Fletcher, 2011 .

Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents.

S. Wilton, S. Fletcher, 2011, The application of clinical genetics.

Splice modification to restore functional dystrophin synthesis in Duchenne muscular dystrophy.

Steve D Wilton, S. Wilton, S. Fletcher, 2010, Current pharmaceutical design.

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

E. Haan, L. Kunkel, A. Beggs, 1992, American journal of human genetics.

A Registry Framework Enabling Patient-Centred Care.

Lee Render, Maciej Radochonski, Tarun Weeramanthri, 2015, Studies in health technology and informatics.

A polymerase chain reaction screening strategy for the promoter of the canine dystrophin gene.

S. A. Goedegebuure, S. Schatzberg, S. Wilton, 1999, American journal of veterinary research.

Direct Sequencing of PCR Products

S. Wilton, 2002 .

Induction of revertant fibres in the mdx Mouse using antisense oligonucleotides

S. Wilton, S. Fletcher, K. Honeyman, 2005 .

Exon skipping in Duchenne muscular dystrophy

S. Wilton, 2008, Neuromuscular Disorders.

Assignment of the human alpha-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridization.

N. Laing, D. Callen, S. Wilton, 1996, Cytogenetics and cell genetics.

Correcting the NLRP3 inflammasome deficiency in macrophages from autoimmune NZB mice with exon skipping antisense oligonucleotides

D. Sester, K. Stacey, S. Wilton, 2016, Immunology and cell biology.

YAPping about and not forgetting TAZ

M. Finch-Edmondson, S. Wilton, S. Fletcher, 2019, FEBS letters.

Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.

K. Davies, G. Dickson, Annemieke Aartsma-Rus, 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

I. Graham, K. Bushby, L. Popplewell, 2009, The Lancet Neurology.

Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations

F. Muntoni, Jihee Kim, S. Wilton, 2010, Neuromuscular Disorders.

The influence of non-HLA gene polymorphisms and interactions on disease risk in a Western Australian multiple sclerosis cohort

I. James, F. Christiansen, F. Mastaglia, 2013, Journal of Neuroimmunology.

The Application of Clinical Genetics Dovepress Novel Compounds for the Treatment of Duchenne Muscular Dystrophy: Emerging Therapeutic Agents

S. Wilton, S. Fletcher, 2022 .

Dystrophin as a therapeutic biomarker: Are we ignoring data from the past?

K. Flanigan, S. Wilton, S. Fletcher, 2014, Neuromuscular Disorders.

Regulation of eukaryotic gene expression by the untranslated gene regions and other non-coding elements

S. Wilton, S. Fletcher, L. Barrett, 2012, Cellular and Molecular Life Sciences.