Works matching DE "BECKER muscular dystrophy"
Results: 414
The diagnosis of SARS-CoV-2-related myocarditis requires confirmation by endomyocardial biopsy or autopsy.
- Published in:
- 2025
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- Publication type:
- Letter
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
A rare case of dystrophinopathy: Duchenne muscular dystrophy-Becker muscular dystrophy intermediate complex.
- Published in:
- 2022
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- Publication type:
- Case Study
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
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- Human Genetics, 2020, v. 139, n. 2, p. 247, doi. 10.1007/s00439-019-02107-4
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- Publication type:
- Article
Perioperative management of a patient with Becker's muscular dystrophy.
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- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2013, v. 1, n. 2, p. 50, doi. 10.14587/paccj.2013.12
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- Publication type:
- Article
Social cognition in two brothers with Becker muscular dystrophy: an exploratory study revealing divergent behavioral phenotypes.
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- Neurological Sciences, 2024, v. 45, n. 7, p. 3471, doi. 10.1007/s10072-023-07257-y
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- Publication type:
- Article
Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions.
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- Neurological Sciences, 2024, v. 45, n. 4, p. 1691, doi. 10.1007/s10072-023-07169-x
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- Publication type:
- Article
Planning care for service users who have a deteriorating condition.
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- Learning Disability Practice, 2014, v. 17, n. 2, p. 30, doi. 10.7748/ldp2014.02.17.2.30.e1513
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- Publication type:
- Article
Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-79024-8
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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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- Publication type:
- Article
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.
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- Biomolecules (2218-273X), 2021, v. 11, n. 11, p. 1578, doi. 10.3390/biom11111578
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- Publication type:
- Article
Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report.
- Published in:
- 2025
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- Publication type:
- Case Study
Becker's Melanosis and Hypoplasia of the Breast and Pectoralis Major Muscle.
- Published in:
- Pediatric Dermatology, 1985, v. 3, n. 1, p. 34, doi. 10.1111/j.1525-1470.1985.tb00482.x
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- Publication type:
- Article
The Duchenne muscular dystrophy gene and cancer.
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- Cellular Oncology (2211-3428), 2021, v. 44, n. 1, p. 19, doi. 10.1007/s13402-020-00572-y
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- Publication type:
- Article
miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context.
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- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0161-2
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- Publication type:
- Article
Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.
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- Application of Clinical Genetics, 2021, v. 14, p. 399, doi. 10.2147/TACG.S317721
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- Publication type:
- Article
Muscular Dystrophy.
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- JAMA: Journal of the American Medical Association, 2011, v. 306, n. 22, p. 2526, doi. 10.1001/jama.2011.1794
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- Publication type:
- Article
Pérdida de heterocigocidad e identificación de portadoras de distrofia muscular de Duchenne: un caso familiar con evento de recombinación.
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- Revista Ciencias de la Salud, 2012, v. 10, n. 1, p. 83
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- Publication type:
- Article
Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles
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- FEBS Letters, 2003, v. 537, n. 1-3, p. 30, doi. 10.1016/S0014-5793(03)00066-8
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- Publication type:
- Article
Instruments to assess upper‐limb function in children and adolescents with neuromuscular diseases: a systematic review.
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- Developmental Medicine & Child Neurology, 2021, v. 63, n. 9, p. 1030, doi. 10.1111/dmcn.14887
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- Publication type:
- Article
What is the effect of assistive devices for standing in the rehabilitation of patients with Duchenne muscular dystrophy? A Cochrane Review summary with commentary.
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- Developmental Medicine & Child Neurology, 2020, v. 62, n. 12, p. 1350, doi. 10.1111/dmcn.14699
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- Publication type:
- Article
What are the effects of treatments used to prevent or treat heart complications in Duchenne muscular dystrophy, Becker muscular dystrophy, and X-linked dilated cardiomyopathy? A Cochrane Review summary with commentary.
- Published in:
- 2020
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- Publication type:
- journal article
Muscle and brain: a dyad with important diagnostic and therapeutic implications.
- Published in:
- 2016
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- Publication type:
- journal article
Dystrophin and the brain.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 1, p. 12, doi. 10.1111/j.1469-8749.2010.03836.x
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- Publication type:
- Article
Pain and activity limitations in children with Duchenne or Becker muscular dystrophy.
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- Developmental Medicine & Child Neurology, 2008, v. 50, n. 7, p. 546, doi. 10.1111/j.1469-8749.2008.03005.x
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- Publication type:
- Article
Validation of a Muscle-Specific Tissue Image Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies.
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- Archives of Pathology & Laboratory Medicine, 2019, v. 143, n. 2, p. 197, doi. 10.5858/arpa.2017-0536-OA
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- Publication type:
- Article
First psychotic episode in an adult with Becker muscular dystrophy.
- Published in:
- 2019
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- Publication type:
- Case Study
Left ventricular volumes and function affected by myocardial fibrosis in patients with Duchenne and Becker muscular dystrophies: a preliminary magnetic resonance study.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2020, v. 78, n. 4, p. 331, doi. 10.33963/KP.15223
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene.
- Published in:
- 2016
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- Publication type:
- Case Study
Duchenne and Becker Muscular Dystrophy: Contribution of a Molecular and Immunohistochemical Analysis in Diagnosis in Morocco.
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- Journal of Biomedicine & Biotechnology, 2009, p. 1, doi. 10.1155/2009/325210
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- Publication type:
- Article
Molecular and Genetic Study of Limb-Girdle Muscular Dystrophy 2D in Patient Cohorts with Various Forms of Progressive Muscular Dystrophies.
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- Russian Journal of Genetics, 2019, v. 55, n. 2, p. 238, doi. 10.1134/S1022795419020030
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- Publication type:
- Article
CASE REPORT: EARLY-ONSET CARDIAC INVOLVEMENT IN BECKER MUSCULAR DYSTROPHY.
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- Acta Marisiensis. Seria Medica, 2024, v. 70, p. 296
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- Publication type:
- Article
Clinicopathologic and molecular profiles of Duchenne and Becker muscular dystrophy.
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- Paediatrica Indonesiana, 2019, v. 59, n. 5, p. 257, doi. 10.14238/pi59.5.2019.257-64
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- Publication type:
- Article
Normal and altered pre-mRNA processing in the DMD gene.
- Published in:
- Human Genetics, 2017, v. 136, n. 9, p. 1155, doi. 10.1007/s00439-017-1820-9
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- Publication type:
- Article
Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.
- Published in:
- Human Genetics, 2016, v. 135, n. 7, p. 685, doi. 10.1007/s00439-016-1666-6
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- Publication type:
- Article
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).
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- Human Genetics, 2005, v. 117, n. 1, p. 92, doi. 10.1007/s00439-005-1270-7
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- Publication type:
- Article
An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.
- Published in:
- Human Genetics, 2004, v. 115, n. 1, p. 13, doi. 10.1007/s00439-004-1118-6
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- Publication type:
- Article
Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot.
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- Human Genetics, 2003, v. 112, n. 3, p. 272, doi. 10.1007/s00439-002-0881-5
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- Publication type:
- Article
Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents.
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- Journal of Clinical Medicine, 2021, v. 10, n. 20, p. 4777, doi. 10.3390/jcm10204777
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- Publication type:
- Article
Abnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy.
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- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3739, doi. 10.3390/jcm9113739
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- Publication type:
- Article
The Role of Cardiovascular Imaging in the Evaluation of Rheumatic and Neuromuscular Disorders.
- Published in:
- 2020
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- Publication type:
- Editorial
Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2151, doi. 10.3390/jcm8122151
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- Publication type:
- Article
Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.
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- Biomedicines, 2024, v. 12, n. 12, p. 2738, doi. 10.3390/biomedicines12122738
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- Publication type:
- Article
Does β-Hydroxy-β-Methylbutyrate Have Any Potential to Support the Treatment of Duchenne Muscular Dystrophy in Humans and Animals?
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- Biomedicines, 2023, v. 11, n. 8, p. 2329, doi. 10.3390/biomedicines11082329
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- Publication type:
- Article
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.
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- Biomedicines, 2021, v. 9, n. 2, p. 219, doi. 10.3390/biomedicines9020219
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- Publication type:
- Article
Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2088
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- Publication type:
- Article