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590 results for “muscular dystrophies.”

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zenodo48/100

Kinematics and timed function tests of facioscapulohumeral muscular dystrophy and myotonic dystrophy

<p>This dataset contains <a href="https://www.opencap.ai/">OpenCap</a> kinematics (body position and joint angles), clinician-scored timed function tests (TFTs), and extracted biomechanical metrics for 129 individuals:</p> <ul> <li> <p>28 participants with facioscapulohumeral muscular dystrophy (FSHD)</p> </li> <li> <p>58 participants with myotonic dystrophy (DM)</p> </li> <li> <p>43 participants with typical movement</p> </li> </ul> <p>For more details, please see the accompanying paper (in submission):</p> <blockquote> <p><strong>Video-based biomechanical analysis captures disease-specific movement signatures of different neuromuscular diseases</strong></p> <p>Parker S. Ruth*, Scott D. Uhlrich*, Constance de Monts, Antoine Falisse, Julie Muccini, Sydney Covitz, Shelby Vogt-Domke, John Day, Tina Duong,&dagger; Scott Delp&dagger;</p> <p>*Contributed equally, &dagger;Contributed equally</p> </blockquote>

opencc-by-4.0Sep 2024View details →
zenodo44/100

Diagnostic strategies for muscular dystrophies: a Cross-Sectional Study

<p>Datos obtenido producto de un estudio de corte transversal con el fin de establecer&nbsp;la prevalencia de base hospitalaria en distrofias musculares, a trav&eacute;s de un dise&ntilde;o de muestreo en fases.</p>

opencc-by-4.0Apr 2023View details →
zenodo40/100

Multiomics Analysis of the mdx/mTR Mouse Model of Duchenne Muscular Dystrophy

<p>This dataset contains RNA sequencing, proteomics, metabolomics, lipidomics,&nbsp;primer sequence, and Ingenuity Pathway Analysis&nbsp;data for a study evaluating differences between the transcriptome, proteome, metabolome, and lipidome of lower limb muscles of mdx/mTR (Jackson Labs strain 023535) and wild-type C57BL/6J (Jackson Labs strain 000664) mice. Updated from previous submission,&nbsp;DOI: 10.5281/zenodo.3370799.</p>

opencc-by-nc-4.0Aug 2019View details →
zenodo40/100

Dateset related to article "Cytokines as potential biomarkers of disease clinical course in muscular dystrophies "

<p>This database includes a comprehensive profile of circulating pro- and anti-inflammatory molecules (cytokines, chemokines and growth factors) obtained from a group of 53 patients with muscular laminopathy, 10 with non-muscular laminopathy, 22 with other muscular disorders and 35 healthy controls. Data obtained by Luminex multiple immune-assay identify TGF-b2, IL-17 and G-CSF as potential biomarkers in discriminating&nbsp; between muscle-related laminopathy and healthy subjects. The different expression&nbsp; of IL-1b, IL-4 and IL-8 among the different forms of laminopathy provides a new hint for the understanding of the pathogenic mechanisms underlying the diverse phenotypes caused by <em>LMNA</em> mutations.</p>

opencc-by-4.0Aug 2021View details →
dryad36/100

Novel DMD mouse model carrying a multi-exonic Dmd deletion exhibit progressive muscular dystrophy and early-onset cardiomyopathy

Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which is the primary cause of death in DMD. While there has been extensive effort in creating animal models to study treatment strategies for DMD, most fail to recapitulate the complete skeletal and cardiac disease manifestations that are presented in affected patients. Here, we generated a mouse model mirroring a patient deletion mutation of exons 52-54 (<i>Dmd &amp;[Delta]52-54</i>). The <i>Dmd &amp;[Delta]52-54</i> mutation led to the absence of dystrophin, resulting in progressive muscle deterioration with weakened muscle strength. Moreover, <i>Dmd &amp;[Delta]52-54</i> present with early-onset cardiomyopathy which is absent in current pre-clinical dystrophin deficient mouse models. Therefore, <i>Dmd &amp;[Delta]52-54</i> presents itself as an excellent pre-clinical model to evaluate the impact on skeletal and cardiac muscles for both mutation dependent and independent approaches.

opencc-zeroAug 2020View details →
zenodo36/100

MD-Vibe Dataset: Footstep-Induced Floor Vibration Data for Functional Gait Assessment of Individuals with Muscular Dystrophy

<p>The purpose of this dataset is to evaluate the performance of floor vibration sensing in tracking the progression of muscular dystrophy through individuals&rsquo; gait patterns. We recruited human subjects (N=36) and conducted experiments at Stanford University and Nationwide Children&#39;s Hospital in Columbus, Ohio, with healthy human subjects (N=21) and children with MD (N=15).</p> <p>&nbsp;</p> <p>The experiments consist of two phases - Phase 1 is a pilot study to test the feasibility of floor vibration sensing in capturing gait characteristics in lab settings; Phase 2 has two hospital studies to evaluate our sensing method in real life. This dataset consists of floor vibration data (vertical velocity of floor vibration) induced by 9 healthy subjects&rsquo; footsteps from these two phases, named <strong>lab data.zip</strong>, <strong>hospital data 1.zip</strong>, and <strong>hospital data 2.zip</strong>, respectively. The complete dataset requires a data-sharing agreement with Nationwide Children&#39;s Hospital.</p> <p>&nbsp;</p> <p>The custom coding scripts (in MATLAB and Python) to process the data are included in the <strong>code.zip</strong>&nbsp;file, which includes 3 processing steps: 1) Preprocessing and Footstep Detection, 2) Feature Extraction, and 3) Model Prediction, the scripts of each step are&nbsp;grouped into a folder with their corresponding names. Detailed function descriptions are included in the scripts.</p> <p>&nbsp;</p> <p>The footstep-induced structural vibration data is stored as both raw data and as individual footsteps. The raw data files start with &ldquo;raw_&rdquo;, each consisting of a series of consecutive footsteps (see the sample plot). The individual footstep data files start with &ldquo;detected_steps_&rdquo;, each consisting of one single footstep detected from the raw data. The dataset is stored in MAT file format that can be accessed through MATLAB.</p> <p>&nbsp;</p> <p>The sensing unit consists of 5 components: 1) the geophone (SM-24), 2) the amplification module, 3) the processor board, 4) the data acquisition module (NI-Daq), and 5) the power cables. The sensing unit converts the structural vibration velocity into voltage records. The sampling frequency is 500 Hz for the lab study and 25600 Hz for the hospital studies.</p> <p>&nbsp;</p> <p>The experiment setup, sample data plot, and code usage can be found in <strong>Dataset Description.pdf</strong>. For more details about the hospital studies, please refer to the MD-Vibe paper at the following link: <a href="https://doi.org/10.1145/3410530.3414610">https://doi.org/10.1145/3410530.3414610</a></p> <p>&nbsp;</p> <p>Please cite this dataset as:</p> <p>Yiwen Dong, Megan Iammarino, Jingxiao Liu, Jesse Codling, Jonathon Fagert, Mostafa Mirshekari, Linda Lowes, Pei Zhang, and Hae Young Noh. 2023. The MD-Vibe Dataset: Footstep-Induced Floor Vibration Data for Functional Gait Assessment of&nbsp;Individuals with Muscular Dystrophy. Zenodo, DOI: <a href="https://doi.org/10.5281/zenodo.8125704">https://doi.org/10.5281/zenodo.8125744</a></p> <p>&nbsp;</p> <p>Yiwen Dong, Joanna Jiaqi Zou, Jingxiao Liu, Jonathon Fagert, Mostafa Mirshekari, Linda Lowes, Megan Iammarino, Pei Zhang, and Hae Young Noh. 2020. MD-Vibe: physics-informed analysis of patient-induced structural vibration data for monitoring gait health in individuals with muscular dystrophy. In Adjunct Proceedings of the 2020 ACM International Joint Conference on Pervasive and Ubiquitous Computing and Proceedings of the 2020 ACM International Symposium on Wearable Computers (UbiComp-ISWC &#39;20). Association for Computing Machinery, New York, NY, USA, 525&ndash;531. <a href="https://doi.org/10.1145/3410530.3414610">https://doi.org/10.1145/3410530.3414610</a></p>

opencc-by-4.0Jul 2023View details →
ClinicalTrials.gov36/100

Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

ClinicalTrials.gov study NCT01826487. IPD Sharing: NO. Countries: 18. Publications: 4.

closedIPD-NOFeb 2026View details →
ClinicalTrials.gov36/100

Trial of Pamrevlumab (FG-3019), in Non-Ambulatory Participants With Duchenne Muscular Dystrophy (DMD)

ClinicalTrials.gov study NCT02606136. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.

restrictedIPD-UNDECIDEDFeb 2026View details →
ClinicalTrials.gov36/100

Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy

ClinicalTrials.gov study NCT04281485. IPD Sharing: YES. Countries: 15. Publications: 0.

controlledIPD-YESFeb 2026View details →
ClinicalTrials.gov36/100

An Open-label Extension Study To Evaluate Safety Of PF-06252616 In Boys With Duchenne Muscular Dystrophy

ClinicalTrials.gov study NCT02907619. IPD Sharing: YES. Countries: 5. Publications: 1.

controlledIPD-YESFeb 2026View details →
ClinicalTrials.gov36/100

Efficacy and Safety of Losmapimod in Treating Participants With Facioscapulohumeral Muscular Dystrophy (FSHD) (REACH)

ClinicalTrials.gov study NCT05397470. IPD Sharing: YES. Countries: 9. Publications: 4.

controlledIPD-YESFeb 2026View details →
ClinicalTrials.gov36/100

A Phase 2 Study to Evaluate the Safety, Efficacy, Pharmacokinetics and Pharmacodynamics of PF-06252616 in Duchenne Muscular Dystrophy

ClinicalTrials.gov study NCT02310763. IPD Sharing: YES. Countries: 8. Publications: 8.

controlledIPD-YESFeb 2026View details →
ClinicalTrials.gov36/100

A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy

ClinicalTrials.gov study NCT03406780. IPD Sharing: NO. Countries: 1. Publications: 1.

closedIPD-NOFeb 2026View details →
ClinicalTrials.gov36/100

Eplerenone for Subclinical Cardiomyopathy in Duchenne Muscular Dystrophy

ClinicalTrials.gov study NCT01521546. IPD Sharing: Not stated. Countries: 1. Publications: 2.

restrictedIPD-UNDECIDEDFeb 2026View details →
ClinicalTrials.gov36/100

An Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)

ClinicalTrials.gov study NCT02760277. IPD Sharing: Not stated. Countries: 6. Publications: 3.

restrictedIPD-UNDECIDEDFeb 2026View details →
ClinicalTrials.gov36/100

Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy

ClinicalTrials.gov study NCT02354352. IPD Sharing: NO. Countries: 1. Publications: 1.

closedIPD-NOFeb 2026View details →
ClinicalTrials.gov36/100

A Study to Evaluate the Safety and Tolerability of PF-06939926 Gene Therapy in Duchenne Muscular Dystrophy

ClinicalTrials.gov study NCT03362502. IPD Sharing: NO. Countries: 1. Publications: 4.

closedIPD-NOFeb 2026View details →
ClinicalTrials.gov36/100

Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)

ClinicalTrials.gov study NCT00759876. IPD Sharing: NO. Countries: 1. Publications: 2.

closedIPD-NOFeb 2026View details →
ClinicalTrials.gov36/100

Outcome Measures in Duchenne Muscular Dystrophy: A Natural History Study

ClinicalTrials.gov study NCT02780492. IPD Sharing: YES. Countries: 3. Publications: 3.

controlledIPD-YESFeb 2026View details →
ClinicalTrials.gov36/100

A Randomized, Double-blind, Placebo-controlled Study of Delandistrogene Moxeparvovec (SRP-9001) for Duchenne Muscular Dystrophy (DMD)

ClinicalTrials.gov study NCT03769116. IPD Sharing: Not stated. Countries: 1. Publications: 1.

restrictedIPD-UNDECIDEDFeb 2026View details →

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DANDI Archive for NWB datasets

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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.

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OpenNeuro

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Last verified 2026-04-29Open record