Works matching DE "BECKER muscular dystrophy"
Results: 416
Asymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies: A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings.
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- Pediatric Cardiology, 2025, v. 46, n. 3, p. 685, doi. 10.1007/s00246-024-03488-8
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- Article
Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era.
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- Pediatric Cardiology, 2025, v. 46, n. 2, p. 267, doi. 10.1007/s00246-023-03382-9
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- Article
Cardiac Phenotype–Genotype Associations in DMD/BMD: A Meta-Analysis and Systematic Review.
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- Pediatric Cardiology, 2021, v. 42, n. 1, p. 189, doi. 10.1007/s00246-020-02470-4
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- Article
Progressive left ventricular dysfunction and myocardial fibrosis in Duchenne and Becker muscular dystrophy: a longitudinal cardiovascular magnetic resonance study.
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- Pediatric Cardiology, 2019, v. 40, n. 2, p. 384, doi. 10.1007/s00246-018-2046-x
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- Article
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy(Communicated by Jean-Louis Mandel).
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- Human Mutation, 2003, v. 21, n. 6, p. 608, doi. 10.1002/humu.10214
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- 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
Duchenne and Becker Muscular Dystrophies' Prevalence in MD STARnet Surveillance Sites: An Examination of Racial and Ethnic Differences.
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- Neuroepidemiology, 2021, v. 55, n. 1, p. 47, doi. 10.1159/000512647
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- Article
Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01354-3
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- Article
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01320-z
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- Article
Dijagnostički, klinički i terapijski izazovi u oboljelih od Duchenneove mišićne distrofi je - prikaz serije bolesnika.
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- Paediatria Croatica, 2020, v. 64, n. 4, p. 282, doi. 10.13112/pc.408
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- 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
Young Adults and Parents' Coping With Duchenne/Becker Muscular Dystrophy: A Focus Group Study.
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- Emerging Adulthood, 2024, v. 12, n. 4, p. 481, doi. 10.1177/21676968241242154
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- Article
Salbutamol repurposing ameliorates neuromuscular junction defects and muscle atrophy in Col6a1<sup>−/−</sup> mouse model of collagen VI‐related myopathies.
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- Clinical & Translational Medicine, 2024, v. 14, n. 7, p. 1, doi. 10.1002/ctm2.1688
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- Article
A new strategy for prenatal genetic screening of copy number variations in the DMD gene: A large cohort study based on NIPT analysis.
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- Clinical & Translational Medicine, 2024, v. 14, n. 5, p. 1, doi. 10.1002/ctm2.1706
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- Article
Electroretinographic findings in Duchenne/Becker muscular dystrophy andcorrelation with genotype.
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- Ophthalmic Genetics, 2002, v. 23, n. 3, p. 157, doi. 10.1076/opge.23.3.157.7885
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- Article
Cellular Transplantation Alters the Disease Progression in Becker's Muscular Dystrophy.
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- Case Reports in Transplantation, 2013, p. 1, doi. 10.1155/2013/909328
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- Article
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Restrospective Study.
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- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00196
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- Article
İlk Tanısı Otizm Olan Bir Becker Musküler Distrofisi Olgusu.
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- Dusunen Adam: Journal of Psychiatry & Neurological Sciences, 2012, v. 25, n. 1, p. 74, doi. 10.5350/DAJPN2012250110
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- Article
AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.
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- Genes, 2025, v. 16, n. 1, p. 29, doi. 10.3390/genes16010029
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- 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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Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue.
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- 2023
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- Editorial
Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.
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- 2023
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- Case Study
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
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
Diagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study.
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- Journal of Neurosciences in Rural Practice, 2020, v. 11, n. 3, p. 420, doi. 10.1055/s-0040-1713301
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- Article
The Histopathologic Examination of a Second Muscle Biopsy Specimen at a Later Date may Sometimes be the Best Approach to Make a Differential Diagnosis in Neuromuscular Disorders.
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- Turkish Journal of Pathology, 2022, v. 38, n. 1, p. 79, doi. 10.5146/tjpath.2019.01512
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- Article
Quality of life and caregiving burden associated with parenting a person with Duchenne/Becker muscular dystrophy in Poland.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03481-7
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- Article
Becker Muscular Dystrophy and Nephrotic-Range Proteinuria: Chance or True Association?
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- British Journal of Hospital Medicine (17508460), 2025, v. 86, n. 2, p. 1, doi. 10.12968/hmed.2024.0569
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- Article
Late‐onset Becker‐type muscular dystrophy in a Border terrier dog.
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- Journal of Small Animal Practice, 2019, v. 60, n. 8, p. 514, doi. 10.1111/jsap.12824
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- Article
LETTER TO THE EDITOR.
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- Angiology, 2003, v. 54, n. 3, p. 383
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- Article
The Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 1, p. 373, doi. 10.3390/ijms26010373
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- Article
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7793, doi. 10.3390/ijms25147793
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- Article
The Development of Robust Antibodies to Sarcospan, a Dystrophin- and Integrin-Associated Protein, for Basic and Translational Research.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 6121, doi. 10.3390/ijms25116121
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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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- Article
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9241, doi. 10.3390/ijms24119241
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- Article
In-Frame Deletion of Dystrophin Exons 8–50 Results in DMD Phenotype.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9117, doi. 10.3390/ijms24119117
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- Article
The Emerging Role of RNA in Diseases and Cancers.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6682, doi. 10.3390/ijms24076682
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- Article
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6358, doi. 10.3390/ijms24076358
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- Article
Specificities of the DMD Gene Mutation Spectrum in Russian Patients.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12710, doi. 10.3390/ijms232112710
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- Article
MicroRNAs in Dystrophinopathy.
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- 2022
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- Publication type:
- Literature Review
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
Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9589, doi. 10.3390/ijms21249589
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- Article
Genome Editing for the Understanding and Treatment of Inherited Cardiomyopathies.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 733, doi. 10.3390/ijms21030733
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- Article
Non-Coding RNAs in Muscle Dystrophies.
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- International Journal of Molecular Sciences, 2013, v. 14, n. 10, p. 19681, doi. 10.3390/ijms141019681
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- Article
Another Cause for HyperCKemia.
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- Indian Pediatrics, 2025, v. 62, n. 2, p. 175, doi. 10.1007/s13312-025-3387-1
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- Article
Duchenne Muscular Dystrophy: Call to Action.
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- Indian Pediatrics, 2024, v. 61, n. 12, p. 1095, doi. 10.1007/s13312-024-3328-4
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- Article
News in Brief.
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- Indian Pediatrics, 2023, v. 60, n. 8, p. 685, doi. 10.1007/s13312-023-2974-2
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- Article
Duchenne Muscular Dystrophy: Journey from Histochemistry to Molecular Diagnosis.
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- Indian Pediatrics, 2020, v. 57, n. 8, p. 741, doi. 10.1007/s13312-020-1919-2
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- Article
PROGRAM SCHEDULE.
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- European Journal of Translational Myology, 2020, v. 30, n. 3, p. 11, doi. 10.4081/ejtm.2020.9345
- Publication type:
- Article