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Delivery of oligonucleotide‐based therapeutics: challenges and opportunities.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 4, p. 1, doi. 10.15252/emmm.202013243
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- Publication type:
- Article
Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 4, p. 1, doi. 10.15252/emmm.202013328
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- Publication type:
- Article
Delivery is key: lessons learnt from developing splice-switching antisense therapies.
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- EMBO Molecular Medicine, 2017, v. 9, n. 5, p. 545, doi. 10.15252/emmm.201607199
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- Publication type:
- Article
Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.
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- EMBO Molecular Medicine, 2015, v. 7, n. 5, p. 562, doi. 10.15252/emmm.201505047
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- Publication type:
- Article
Affinity proteomics within rare diseases: a BIO- NMD study for blood biomarkers of muscular dystrophies.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 7, p. 918, doi. 10.15252/emmm.201303724
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- Publication type:
- Article
Splicing modulation therapy in the treatment of genetic diseases.
- Published in:
- Application of Clinical Genetics, 2014, v. 7, p. 245, doi. 10.2147/TACG.S71506
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- Publication type:
- Article
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.
- Published in:
- 2017
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- Publication type:
- journal article
Exon skipping for DMD.
- Published in:
- 2012
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- Publication type:
- Abstract
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
- Published in:
- 2016
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- Publication type:
- journal article
SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 12, p. 1, doi. 10.1093/nar/gkv242
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- Publication type:
- Article
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 1, p. 19, doi. 10.1002/ajmg.c.32017
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- Publication type:
- Article
Multiomic characterization of disease progression in mice lacking dystrophin.
- Published in:
- PLoS ONE, 2023, v. 17, n. 3, p. 1, doi. 10.1371/journal.pone.0283869
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- Publication type:
- Article
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1370, doi. 10.1038/ng.2454
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- Publication type:
- Article
New insights in gene-derived therapy: the example of Duchenne muscular dystrophy.
- Published in:
- Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 199, doi. 10.1111/j.1749-6632.2010.05836.x
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- Publication type:
- Article
Development of Antisense-Mediated Exon Skipping as a Treatment for Duchenne Muscular Dystrophy.
- Published in:
- Annals of the New York Academy of Sciences, 2009, v. 1175, n. 1, p. 71, doi. 10.1111/j.1749-6632.2009.04973.x
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- Publication type:
- Article
The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies.
- Published in:
- Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231188979
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- Publication type:
- Article
Learning, memory and blood–brain barrier pathology in Duchenne muscular dystrophy mice lacking Dp427, or Dp427 and Dp140.
- Published in:
- Genes, Brain & Behavior, 2024, v. 23, n. 3, p. 1, doi. 10.1111/gbb.12895
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- Publication type:
- Article
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, p. 1, doi. 10.1186/s40478-015-0268-1
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- Publication type:
- Article
RNA-based therapies for genodermatoses.
- Published in:
- Experimental Dermatology, 2017, v. 26, n. 1, p. 3, doi. 10.1111/exd.13141
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- Publication type:
- Article
Orphan Medicine Incentives: How to Address the Unmet Needs of Rare Disease Patients by Optimizing the European Orphan Medicinal Product Landscape Guiding Principles and Policy Proposals by the European Expert Group for Orphan Drug Incentives (OD Expert Group)
- Published in:
- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.744532
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- Publication type:
- Article
Antisense-Oligonucleotide Mediated Exon Skipping in Activin-Receptor-Like Kinase 2: Inhibiting the Receptor That Is Overactive in Fibrodysplasia Ossificans Progressiva.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069096
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- Publication type:
- Article
The Effects of Low Levels of Dystrophin on Mouse Muscle Function and Pathology.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031937
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- Publication type:
- Article
Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024308
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- Publication type:
- Article
Correction: Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.
- Published in:
- 2021
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- Publication type:
- Correction Notice
The dystrophin gene and cognitive function in the general population.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 837, doi. 10.1038/ejhg.2014.183
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- Publication type:
- Article
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169
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- Publication type:
- Article
Therapeutic exon skipping for dysferlinopathies?
- Published in:
- 2010
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- Publication type:
- Correction Notice
Therapeutic exon skipping for dysferlinopathies?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 889, doi. 10.1038/ejhg.2010.4
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- Publication type:
- Article
Reply to Lévy et al.
- Published in:
- 2010
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- Publication type:
- Letter
Progress in therapeutic antisense applications for neuromuscular disorders.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 146, doi. 10.1038/ejhg.2009.160
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- Publication type:
- Article
Detailed genetic and functional analysis of the hDMDdel52/mdx mouse model.
- Published in:
- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0244215
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- Publication type:
- Article
Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain.
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- BMC Neuroscience, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2202-14-5
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- Publication type:
- Article
The RNA-binding profile of the splicing factor SRSF6 in immortalized human pancreatic β-cells.
- Published in:
- Life Science Alliance, 2021, v. 4, n. 3, p. 1, doi. 10.26508/lsa.202000825
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- Publication type:
- Article
Development of a Web Course on Gene Therapy by the International Consortium of Gene Therapy.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 3, p. 482, doi. 10.1038/mt.2014.11
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- Publication type:
- Article
Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 2, p. 266, doi. 10.1038/mt.2013.4
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- Publication type:
- Article
Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41398-019-0535-1
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- Publication type:
- Article
Imperatives for DUCHENNE MD: a Simplified Guide to Comprehensive Care for Duchenne Muscular Dystrophy.
- Published in:
- PLoS Currents, 2015, p. 276, doi. 10.1371/currents.md.87770501e86f36f1c71e0a5882ed9ba1
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- Publication type:
- Article
Generation of Embryonic Stem Cells and Mice for Duchenne Research.
- Published in:
- PLoS Currents, 2013, p. 264, doi. 10.1371/currents.md.cbf1d33001de80923ce674302cad7925
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- Publication type:
- Article
The Effect of 6-Thioguanine on Alternative Splicing and Antisense-Mediated Exon Skipping Treatment for Duchenne Muscular Dystrophy.
- Published in:
- PLoS Currents, 2012, p. 547, doi. 10.1371/currents.md.597d700f92eaa70de261ea0d91821377
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- Publication type:
- Article
Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay.
- Published in:
- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0239468
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- Publication type:
- Article
Cross-sectional study into age-related pathology of mouse models for limb girdle muscular dystrophy types 2D and 2F.
- Published in:
- PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0220665
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- Publication type:
- Article
Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy.
- Published in:
- BMC Medical Genomics, 2011, v. 4, n. 1, p. 36, doi. 10.1186/1755-8794-4-36
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- Publication type:
- Article
Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy.
- Published in:
- Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 4, p. 2442, doi. 10.1111/jcmm.13543
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- Publication type:
- Article
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3544, doi. 10.1093/brain/awr291
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- Publication type:
- Article
Natural disease history of the D2-mdx mouse model for Duchenne muscular dystrophy.
- Published in:
- FASEB Journal, 2019, v. 33, n. 7, p. 8110, doi. 10.1096/fj.201802488R
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- Publication type:
- Article
New function of the myostatin/activin type I receptor (ALK4) as a mediator of muscle atrophy and muscle regeneration.
- Published in:
- FASEB Journal, 2017, v. 31, n. 1, p. 238, doi. 10.1096/fj.201600675r
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- Publication type:
- Article
New function of the myostatin/activin type I receptor (ALK4) as a mediator of muscle atrophy and muscle regeneration.
- Published in:
- FASEB Journal, 2017, v. 31, n. 1, p. 238, doi. 10.1096/fj.201600675R
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- Publication type:
- Article
DMD transcript imbalance determines dystrophin levels.
- Published in:
- FASEB Journal, 2013, v. 27, n. 12, p. 4909, doi. 10.1096/fj.13-232025
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- Publication type:
- Article
Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice.
- Published in:
- FASEB Journal, 2013, v. 27, n. 6, p. 2484, doi. 10.1096/fj.12-224170
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- Publication type:
- Article
Cell-type specific regulation of myostatin signaling.
- Published in:
- FASEB Journal, 2012, v. 26, n. 4, p. 1462, doi. 10.1096/fj.11-191189
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- Publication type:
- Article