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Myotonic dystrophy
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Publications and studies (1160)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. VirtualPark_Pediatric (2026-05-12) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-101 in Participants With Myotonic Dystrophy Type 1 (2026-05-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders (2026-04-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Muscle Oxygenation in Effort in Neuromuscular Diseases (2026-04-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders (2026-04-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders (2026-04-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Investigating Exercise in Myotonic Dystrophy Type 2 (DM2) (2026-04-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Muscle Health Measurements Using Electrical Impedance Myography (2026-04-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Remote Assessments and Genetic Determinants of Myotonic Dystrophy (2026-04-01) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. An Open-Label Extension Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1 (FREEDOM-OLE) (2026-03-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Molecular and Genetic Studies of Congenital Myopathies (2026-03-25) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Fall Frequency and Factors Affecting Dynamic Balance in Patients With Myotonic Dystrophy Type 1 (2026-03-25) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy (2026-03-19) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Study of AOC 1001 in Adult Myotonic Dystrophy Type 1 (DM1) Patients (2026-03-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies (2026-02-25) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Safety, Tolerability, PK, and PD Study of PGN-EDODM1 in Participants With Myotonic Dystrophy Type 1 (2026-02-13) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Study of ATX-01 in Participants With DM1 (2026-02-10) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. The Efficacy and Safety of Once Daily Mexiletine PR in Patients With Myotonic Dystrophy Type 1 and Type 2 (2026-02-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Spanish National Registry for Myotonic Dystrophy Type 1 (2026-02-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Open-Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Once Daily Mexiletine PR in Patients With Myotonic Dystrophy Type 1 and Type 2 Who Have Completed MEX-DM-302 Study. (2026-01-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy (2026-01-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Longitudinal Evaluation of Neuromuscular Involvement in Type 1 Myotonic Dystrophy (2026-01-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Global Study of Del-desiran for the Treatment of DM1 (2026-01-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (2026-01-16) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Pre- and postsynaptic upregulation of FasII synergistically underlies neuropathological and behavioral phenotypes in a Drosophila model of myotonic dystrophy. (2025/12/18) ♡
- Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort. (2025/12/17) ♡
- MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility. (2025/12/16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study. (2025/12/11) ♡
- Genetic anticipation and cardiac conduction abnormalities in myotonic dystrophy type 1: implications for early stratification from a multicenter registry. (2025/12/11) ♡
- Quantification of Interactions between Small Molecules and RNA Probes Representative of Myotonic Dystrophy Type 1 Using Affinity Capillary Electrophoresis and UPLC-UV. (2025/12/07) ♡
- Quantitative Magnetic Resonance Imaging of the Forearm in Myotonic Dystrophy Type 1. (2025/12/05) ♡
- Development of an AAV-delivered microRNA gene therapy for myotonic dystrophy type 1. (2025/12/03) ♡
- AAV-mediated DMPK silencing: A defining moment in myotonic dystrophy type 1 therapeutics. (2025/12/03) ♡
- Characterizing white matter hyperintensities in myotonic dystrophy type 1 through IVIM derived metrics. (2025/12/02) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Beyond Prevalence: The Importance of Multifactorial Assessment in Cancer Risk Among Myotonic Dystrophy Patients. (2025/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Sudden Death Caused by Bilateral Diaphragmatic Eventration in Myotonic Dystrophy Type 1. (2025/12/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply to: "Beyond Prevalence: The Importance of Multifactorial Assessment in Cancer Risk Among Myotonic Dystrophy Patients". (2025/12/01) ♡
- A 12-Week Strength Training Improves Mitochondrial Respiration, H(2)O(2) Emission and Skeletal Muscle Integrity in Women With Myotonic Dystrophy Type 1. (2025/12/01) ♡
- Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1. (2025/12/01) ♡
- 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. From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy. (2025/12/01) ♡
- Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. (2025/12/01) ♡
- Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1. (2025/11/26) ♡
- DNA extrusion size determines pathway choice during CAG repeat expansion. (2025/11/26) ♡
- Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy. (2025/11/25) ♡
- Plasma Neurofilament Light Chain and Phosphorylated Tau Are Elevated in Myotonic Dystrophy Type 1. (2025/11/19) ♡
- A novel discovery of elevated risk of neuroendocrine tumors in patients with myotonic dystrophy. (2025/11/15) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Multiple Defects in Muscle Regeneration in the HSALR Mouse Model of RNA Toxicity. (2025/11/13) ♡
- 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. Cardiac Involvement in Myotonic Dystrophy Type 1: Mechanisms, Clinical Perspectives, and Emerging Therapeutic Strategies. (2025/11/13) ♡
- HSA(LR) Mice Exhibit Co-Expression of Proteostasis Genes Prior to Development of Muscle Weakness. (2025/11/06) ♡
- Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness. (2025/11/05) ♡
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