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Duchenne muscular dystrophy
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Publications and studies (1745)
- Uridine Administration Promotes Normalization of Heart Mitochondrial Function in Dystrophin-Deficient Mice and Decreases Tissue Fibrosis. (2023/11/01) ♡
- Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments. (2023/10/28) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model. (2023/10/26) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Gene and Cellular Therapies for Leukodystrophies. (2023/10/24) ♡
- Electrocardiographic Changes in Jordanian Patients With Becker Muscular Dystrophy. (2023/10/24) ♡
- Efficacy of exon-skipping therapy for DMD cardiomyopathy with mutations in actin binding domain 1. (2023/10/19) ♡
- On genotype-phenotype relationship of dystrophinopathies among Iranian population. (2023/10/07) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Development of Essential Oil Delivery Systems by 'Click Chemistry' Methods: Possible Ways to Manage Duchenne Muscular Dystrophy. (2023/10/02) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Cognitive function in DMD carriers: personal case series and literature review. (2023/09/30) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Gastrointestinal and nutritional care in pediatric neuromuscular disorders. (2023/09/09) ♡
- The Adiponectin Receptor Agonist, ALY688: A Promising Therapeutic for Fibrosis in the Dystrophic Muscle. (2023/08/19) ♡
- Myonectin protects against skeletal muscle dysfunction in male mice through activation of AMPK/PGC1α pathway. (2023/08/04) ♡
- Behavioural strengths and difficulties in relation to intellectual functions and age in Swedish boys with Duchenne muscular dystrophy. (2023/08/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Glomerular hyperfiltration: part 2-clinical significance in children. (2023/08/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Oxidative stress: Roles in skeletal muscle atrophy. (2023/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy. (2023/07/15) ♡
- Beneficial immune-modulatory effects of the N-163 strain of Aureobasidium pullulans-produced 1,3-1,6 Beta glucans in Duchenne muscular dystrophy: Results of an open-label, prospective, exploratory case-control clinical study. (2023/07/04) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy. (2023/07/01) ♡
- Development and Validation of an Outpatient Clinical Predictive Score for the Diagnosis of Duchenne Muscular Dystrophy/Becker Muscular Dystrophy in Children Aged 2-18 Years. (2023/07/01) ♡
- Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan. (2023/06/30) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Global prevalence of intellectual developmental disorder in dystrophinopathies: A systematic review and meta-analysis. (2023/06/01) ♡
- Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events. (2023/06/01) ♡
- Reliability and validity of the Turkish version of the Upper Limb Short Questionnaire in Duchenne muscular dystrophy. (2023/06/01) ♡
- Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study. (2023/06/01) ♡
- Major Adverse Dystrophinopathy Events (MADE) Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy. (2023/06/01) ♡
- Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells. (2023/05/09) ♡
- Identification of quantitative polymerase chain reaction reference genes suitable for normalising gene expression in the brain of normal and dystrophic mice and dogs. (2023/05/05) ♡
- Winged Scapula: Clinical and Electrophysiological Features and Common Causes Based on 20 Years of Experience in a Referral Center in Turkey. (2023/05/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Quantitative muscle ultrasound in children with Duchenne muscular dystrophy: Comparing to magnetic resonance imaging. (2023/05/01) ♡
- High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy. (2023/05/01) ♡
- A comprehensive normative reference database of muscle morphology in typically developing children aged 3-18 years-a cross-sectional ultrasound study. (2023/05/01) ♡
- Inactivating IL34 promotes regenerating muscle stem cell expansion and attenuates Duchenne muscular dystrophy in mouse models. (2023/04/23) ♡
- The unconditioned fear response in dystrophin-deficient mice is associated with adrenal and vascular function. (2023/04/04) ♡
- Spirometry correlates with physical activity in patients with Duchenne muscular dystrophy. (2023/04/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis and fibrosis. (2023/04/01) ♡
- Adeno-associated viral delivery of engineered tRNA-enzyme pairs into nonsense mutation mouse models. (2023/03/17) ♡
- Retracted publicationiThis research has been withdrawn by science itself, for example due to a flaw in the method or unreliable data. Do not use it as support and do not discuss it as evidence. Microbiota dysbiosis influences immune system and muscle pathophysiology of dystrophin-deficient mice. (2023/03/08) ♡
- Targeting gut dysbiosis against inflammation and impaired autophagy in Duchenne muscular dystrophy. (2023/03/08) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. When dysbiosis meets dystrophy: an unwanted gut-muscle connection. (2023/03/08) ♡
- Longitudinal study of multi-parameter quantitative magnetic resonance imaging in Duchenne muscular dystrophy: hyperresponsiveness of gluteus maximus and detection of subclinical disease progression in functionally stable patients. (2023/03/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Opening Pandora's box: abnormal genetic carrier screening and need for lifetime follow-up. (2023/03/01) ♡
- Subcellular diversity of Nav1.5 in cardiomyocytes: distinct functions, mechanisms and targets. (2023/03/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Magnetic resonance quantification of skeletal muscle lipid infiltration in a humanized mouse model of Duchenne muscular dystrophy. (2023/03/01) ♡
- A Virtual Reality Exergame: Clinician-Guided Breathing and Relaxation for Children with Muscular Dystrophy. (2023/03/01) ♡
- Non-negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue. (2023/03/01) ♡
- Longitudinal Assessment of Creatine Kinase, Creatine/Creatinine(ratio), and Myostatin as Monitoring Biomarkers in Becker Muscular Dystrophy. (2023/02/28) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Orphan Drugs in Neurology-A Narrative Review. (2023/02/26) ♡
- Discovery of novel 5-methoxybenzothiophene hydrazides as metabolically stable Clk1 inhibitors with high potency and unprecedented Clk1 isoenzyme selectivity. (2023/02/05) ♡
- A longitudinal study of creatine kinase and creatinine levels in Duchenne muscular dystrophy. (2023/02/01) ♡
- Determination of equilibria constants of arginine:glycine amidinotransferase (AGAT)-catalyzed reactions using concentrations of circulating amino acids. (2023/02/01) ♡
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