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590 results for “muscular dystrophies.”
Cardiac Myoediting Attenuates Cardiac Abnormalities in Human and Mouse Models of Duchenne Muscular Dystrophy
GEO Series GSE169190. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
Transcriptome analysis of cardiac organoids derived from Duchenne Muscular Dystrophy patient-derived inudced pluripotent stem cells
GEO Series GSE194297. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Data from: Study of the accuracy of a machine learning muscle MRI-based tool for diagnosis the of muscular dystrophies
<p>Objective: Genetic diagnosis of muscular dystrophies (MDs) has classically been guided by clinical presentation, muscle biopsy and muscle MRI data. Muscle MRI suggests diagnosis based on the pattern of muscle fatty replacement. However, patterns overlap between different disorders and knowledge about disease-specific patterns is limited. Our aim was to develop a software-based tool that can recognize muscle MRI patterns and thus aid diagnosis of MDs. Methods: We collected 976 pelvic and lower limbs T1 weighted muscle MRIs from 10 different MDs. Fatty replacement was quantified using Mercuri score and files containing the numeric data were generated. Random forest unsupervised machine learning was applied to develop a model useful to identify the correct diagnosis. 2000 different models were generated and the one with higher accuracy was selected. A new set of 20 MRIs was used to test the accuracy of the model, and the results were compared with diagnoses proposed by 4 specialists in the field. Results: A total of 976 lower limbs MRIs from 10 different MDs were used. The best model obtained had a 95.7% accuracy, with 92.1% sensitivity and 99.4% specificity. When compared with experts on the field, the diagnostic accuracy of the model generated was significantly higher in a new set of 20 MRIs. Conclusion: Machine learning can help medical doctors in the diagnosis of muscle dystrophies by analyzing patterns of muscle fatty replacement in muscle MRI. This tool can be helpful for daily clinics but also in the interpretation of the results of next generation sequencing tests. Classification of Evidence: This study provides Class II evidence that a muscle MRI-based artificial intelligence tool accurately diagnosis muscular dystrophies.</p>
Figure 1 from: Bouquillon L, Bindman D, Hendriksen J, Collin P, Hoskin J, Conn R, Geagan C, Quinlivan R (2024) Workshop report: Workshop on psychiatric prescribing and psychology testing and intervention in children and adults with Duchenne muscular dystrophy. Research Ideas and Outcomes 10: e119243. https://doi.org/10.3897/rio.10.e119243
Figure 1 The Big 10 model of non-motor problems in DMD (kindly provided by Dr Jos Hendriksen).
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
ClinicalTrials.gov study NCT00082108. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Dysphagia in Oculopharyngeal Muscular Dystrophy (OPMD)- Evaluation, Endoscopic Examination of Swallowing, Treatment and Long Term Follow up
ClinicalTrials.gov study NCT01167439. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Natural History of Oculo-Pharyngeal Muscular Dystrophy (OPMD) - Israel National OPMD Registry
ClinicalTrials.gov study NCT07146256. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Safety and Dystrophin Expression of SPOT-mRNA03 in Duchenne Muscular Dystrophy (DMD) Patients
ClinicalTrials.gov study NCT07188012. IPD Sharing: NO. Countries: 1. Publications: 0.
Ph2 Open-label Study of AOC 1044 in Duchenne Muscular Dystrophy Participants With Mutations Amenable to Exon44 Skipping
ClinicalTrials.gov study NCT06244082. IPD Sharing: NO. Countries: 1. Publications: 0.
Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction in Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT01823783. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Walking ANalysis Interest in Persons wiTh facioscapulohumEral Muscular Dystrophies
ClinicalTrials.gov study NCT06600308. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Long-term, Extension Study of DS-5141b in Patients With Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT04433234. IPD Sharing: NO. Countries: 1. Publications: 0.
A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 44 Skipping to Evaluate the Safety and Efficacy of ENTR-601-44
ClinicalTrials.gov study NCT07037862. IPD Sharing: NO. Countries: 4. Publications: 0.
Open Label, Extension Study of PRO044 in Duchenne Muscular Dystrophy (DMD)
ClinicalTrials.gov study NCT02329769. IPD Sharing: Not stated. Countries: 4. Publications: 0.
Study of Fordadistrogene Movaparvovec in Early Stage Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT05429372. IPD Sharing: YES. Countries: 2. Publications: 0.
Aerobic Exercise in Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT04173234. IPD Sharing: NO. Countries: 1. Publications: 0.
Evaluate the Efficacy and Safety of EN001 in Patients With Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT06328725. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Study of ARO-DUX4 in Adult and Adolescent Patients With Facioscapulohumeral Muscular Dystrophy Type 1
ClinicalTrials.gov study NCT06131983. IPD Sharing: NO. Countries: 8. Publications: 0.
A Study to Assess the Efficacy and Safety of Satralizumab in Duchenne Muscular Dystrophy (DMD)
ClinicalTrials.gov study NCT06450639. IPD Sharing: YES. Countries: 6. Publications: 0.
Modulation of SERCA2a of Intra-Myocytic Calcium Trafficking in Cardiomyopathy Secondary to Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT06224660. IPD Sharing: NO. Countries: 1. Publications: 0.
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These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.