Works matching DE "DYSTROPHIN genes"
Results: 362
Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy.
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- Pediatric Cardiology, 2022, v. 43, n. 4, p. 855, doi. 10.1007/s00246-021-02797-6
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- Article
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients (Communicated by Ulf Landegren).
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- Human Mutation, 2004, v. 23, n. 1, p. 57, doi. 10.1002/humu.10283
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- Article
Hsp72 preserves muscle function and slows progression of severe muscular dystrophy.
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- Nature, 2012, v. 484, n. 7394, p. 394, doi. 10.1038/nature10980
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- Article
Updates in the Use of Vamorolone and Steroids in the Treatment of Duchenne Muscular Dystrophy.
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- touchREVIEWS in Neurology, 2023, v. 19, n. 2, p. 1, doi. 10.17925/USN.2023.19.2.5
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- Publication type:
- Article
On genotype-phenotype relationship of dystrophinopathies among Iranian population.
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- Current Journal of Neurology, 2023, v. 22, n. 4, p. 231, doi. 10.18502/cjn.v22i4.14528
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- Article
Exon Deletion Patterns of the Dystrophin Gene in 82 Vietnamese Duchenne/Becker Muscular Dystrophy Patients.
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- Journal of Neurogenetics, 2013, v. 27, n. 4, p. 170, doi. 10.3109/01677063.2013.830616
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- Article
Two Non-Contiguous Duplications in the DMD Gene in a Spanish Family.
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- Journal of Neurogenetics, 2008, v. 22, n. 1, p. 93, doi. 10.1080/01677060701686184
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- Article
Duchenne muscular dystrophy: preliminary experience with sacubitril-valsartan in patients with asymptomatic left ventricular dysfunction.
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- European Review for Medical & Pharmacological Sciences, 2020, v. 24, n. 17, p. 9112
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- Publication type:
- Article
Duchenne muscular dystrophy trajectory in R-DMDdel52 preclinical rat model identifies COMP as biomarker of fibrosis.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01355-2
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- Publication type:
- Article
Autophagy in the heart is enhanced and independent of disease progression in mus musculus dystrophinopathy models.
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- JRSM Cardiovascular Disease, 2019, v. 8, p. N.PAG, doi. 10.1177/2048004019879581
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- Publication type:
- Article
Advances in Dystrophinopathy Diagnosis and Therapy.
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- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1319, doi. 10.3390/biom13091319
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- Article
Design of bacteriophage T4-based artificial viral vectors for human genome remodeling.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38364-1
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- Publication type:
- Article
Myocardial Contractile Dysfunction Is Present without Histopathology in a Mouse Model of Limb-Girdle Muscular Dystrophy-2F and Is Prevented after Claudin-5 Virotherapy.
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- Frontiers in Physiology, 2016, v. 7, p. 1, doi. 10.3389/fphys.2016.00539
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- Publication type:
- Article
An Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy Using the UMD-DMD Database.
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- Genes, 2024, v. 15, n. 11, p. 1489, doi. 10.3390/genes15111489
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- Publication type:
- Article
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.
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- Genes, 2023, v. 14, n. 1, p. 214, doi. 10.3390/genes14010214
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- Publication type:
- Article
Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot.
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- Genes, 2022, v. 13, n. 2, p. 257, doi. 10.3390/genes13020257
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- Article
Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene.
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- Genes, 2020, v. 11, n. 10, p. 1180, doi. 10.3390/genes11101180
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- Article
Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update.
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- Genes, 2020, v. 11, n. 8, p. 837, doi. 10.3390/genes11080837
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- Publication type:
- Article
Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies.
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- Genes, 2020, v. 11, n. 7, p. 765, doi. 10.3390/genes11070765
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- Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
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- Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
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- Article
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.
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- Genes, 2017, v. 8, n. 10, p. 253, doi. 10.3390/genes8100253
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- Article
Rooting Out a Novel Stress Syndrome in Pigs.
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- Agricultural Research, 2013, v. 61, n. 4, p. 16
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- Article
Caveolin 3 gene and mitochondrial tRNA methionin gene in Duchenne muscular dystrophy.
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- Egyptian Journal of Medical Human Genetics, 2009, v. 10, n. 2, p. 154
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- Article
Cytokines and growth factors in Duchene muscular dystrophy patients.
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- Egyptian Journal of Medical Human Genetics, 2008, v. 9, n. 2, p. 181
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- Publication type:
- Article
Determination of qPCR reference genes suitable for normalizing gene expression in a novel model of Duchenne muscular dystrophy, the D2-mdx mouse.
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- PLoS ONE, 2024, v. 19, n. 11, p. 1, doi. 10.1371/journal.pone.0310714
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- Publication type:
- Article
Mechanisms and Consequences of Cerebellar Purkinje Cell Disinhibition in a Mouse Model of Duchenne Muscular Dystrophy.
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- Journal of Neuroscience, 2022, v. 42, n. 10, p. 2103, doi. 10.1523/JNEUROSCI.1256-21.2022
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- Article
Dystrophin and utrophin 'double knockout' dystrophic mice exhibit a spectrum of degenerative musculoskeletal abnormalities.
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- Journal of Orthopaedic Research, 2013, v. 31, n. 3, p. 343, doi. 10.1002/jor.22236
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- Article
Systemic human minidystrophin gene transfer improves functions and life span of dystrophin and dystrophin/utrophin-deficient mice.
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- Journal of Orthopaedic Research, 2009, v. 27, n. 4, p. 421, doi. 10.1002/jor.20781
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- Publication type:
- Article
Early Cardiac Dysfunction in Duchenne Muscular Dystrophy: A Case Report and Literature Update.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1685, doi. 10.3390/ijms26041685
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- Article
Two Novel Mouse Models of Duchenne Muscular Dystrophy with Similar Dmd Exon 51 Frameshift Mutations and Varied Phenotype Severity.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 1, p. 158, doi. 10.3390/ijms26010158
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- Article
In Vitro Gene Therapy Using Human iPS-Derived Mesoangioblast-Like Cells (HIDEMs) Combined with Microdystrophin (μDys) Expression as the New Strategy for Duchenne Muscular Dystrophy (DMD) Experimental Treatment.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 22, p. 11869, doi. 10.3390/ijms252211869
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- Article
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2787, doi. 10.3390/ijms25052787
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- Publication type:
- Article
Modeling Duchenne Muscular Dystrophy Cardiomyopathy with Patients' Induced Pluripotent Stem-Cell-Derived Cardiomyocytes.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8657, doi. 10.3390/ijms24108657
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- Article
Bioenergetic and Metabolic Impairments in Induced Pluripotent Stem Cell-Derived Cardiomyocytes Generated from Duchenne Muscular Dystrophy Patients.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9808, doi. 10.3390/ijms23179808
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- Article
Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and Cardiomyocytes.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9176, doi. 10.3390/ijms23169176
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- Article
Therapeutic Application of Extracellular Vesicles-Capsulated Adeno-Associated Virus Vector via nSMase2/Smpd3 , Satellite, and Immune Cells in Duchenne Muscular Dystrophy.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1551, doi. 10.3390/ijms23031551
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- Publication type:
- Article
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).
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- International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 59, doi. 10.3390/ijms23010059
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- Article
Natural History of a Mouse Model Overexpressing the Dp71 Dystrophin Isoform.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12617, doi. 10.3390/ijms222312617
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- Article
Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8954, doi. 10.3390/ijms22168954
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- Article
First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7803, doi. 10.3390/ijms21207803
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- Publication type:
- Article
Multi-Compartment, Early Disruption of cGMP and cAMP Signalling in Cardiac Myocytes from the mdx Model of Duchenne Muscular Dystrophy.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7056, doi. 10.3390/ijms21197056
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- Article
miRNA Profiling for Early Detection and Treatment of Duchenne Muscular Dystrophy.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4638, doi. 10.3390/ijms20184638
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- Article
Modulation of Protein Quality Control and Proteasome to Autophagy Switch in Immortalized Myoblasts from Duchenne Muscular Dystrophy Patients.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 178, doi. 10.3390/ijms19010178
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- Publication type:
- Article
Clinical and Molecular Profile of Duchenne Muscular Dystrophy (DMD): Case-Record Analysis From Uttar Pradesh, India.
- Published in:
- Indian Pediatrics, 2024, v. 61, n. 12, p. 1119, doi. 10.1007/s13312-024-3333-7
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- Article
Duchenne Muscular Dystrophy — Renewed Enthusiasm as We Enter the Era of Therapeutics!
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- Indian Pediatrics, 2024, v. 61, n. 12, p. 1093, doi. 10.1007/s13312-024-3327-5
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- Article
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
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- BMC Genetics, 2001, v. 2, p. 17, doi. 10.1186/1471-2156-2-17
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- Article
Comparative study of mesenchymal stem cells from C57BL/10 and mdx mice.
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- BMC Cell Biology, 2008, v. 9, p. 1, doi. 10.1186/1471-2121-9-24
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- Article
Osteopontin promotes fibrosis in dystrophic mouse muscle by modulating immune cell subsets and intramuscular TGF-beta.
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- 2009
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- Publication type:
- journal article
Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury.
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- Journal of Clinical Investigation, 2007, v. 117, p. 1805, doi. 10.1172/JCI30848
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- Publication type:
- Article
MUTATION ANALYSIS OF DYSTROPHIN GENE IN MALAYSIAN DUCHENNE MUSCULAR DYSTROPHY (DMD) PATIENTS.
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- Malaysian Journal of Medical Sciences, 2008, p. 28
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- Publication type:
- Article