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Muscles and connective tissue
Myotonic dystrophy
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Publications and studies (1160)
- Predictors of quality of life and social participation in myotonic dystrophy type 1. (2026/03/01) ♡
- Elevated Risk of Endometrial Cancer and Precursor Lesions in Patients With Myotonic Dystrophy: A Retrospective Study at a Single Institution in Japan. (2026/03/01) ♡
- 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. What Is in the Myopathy Literature? (2026/03/01) ♡
- A systems perspective on rare diseases: integrating human phenotype ontology with the Anukta framework of Ayurveda. (2026/03/01) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. CRISPR Gene Editing for Nucleotide Repeat Expansion Disorders: A Systematic Review of Preclinical and Clinical Evidence. (2026/03/01) ♡
- Response to noninvasive home mechanical ventilation in Myotonic Dystrophy type 1: The multicenter REMeDY study. (2026/02/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fading Muscle and a Flaccid Bladder: Atonic Bladder in a Case of Myotonic Dystrophy-A Case Report. (2026/02/25) ♡
- Living and coping with adult-onset myotonic dystrophy type 1 from the perspectives of caregivers. (2026/02/01) ♡
- Potential of Nanopore Long Read Sequencing for Determining CTG Repeat Lengths in the DMPK1 Gene During Prenatal or Preimplantation Genetic Testing. (2026/02/01) ♡
- Development and Validation of a Disease-Specific, Patient-Reported Outcome Measure: The Myotonic Dystrophy Type 2 Health Index. (2026/02/01) ♡
- 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. Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015-2025). (2026/02/01) ♡
- 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. Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice? (2026/02/01) ♡
- Statins in Genetic Myopathies: A Retrospective Analysis of Safety and Tolerability. (2026/02/01) ♡
- Aberrant Splicing of DNM1L Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1). (2026/02/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Myotonic dystrophy and cancer risk: Insights, limitations, and the need for genetic certainty. (2026/01/15) ♡
- Assessment of safety and efficacy of risdiplam treatment in adults with spinal muscular atrophy. (2026/01/14) ♡
- Neonatal congenital myotonic dystrophy with DMPK gene expansion: clinical features and short-term outcomes. (2026/01/08) ♡
- Rehabilitation technology in assessment and treatment of arm and hand function in myotonic dystrophy type 1: A single subject experimental design study. (2026/01/01) ♡
- Co-Opting MBNL-Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy. (2026/01/01) ♡
- The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells. (2026/01/01) ♡
- 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. Huntington disease: somatic expansion, pathobiology and therapeutics. (2026/01/01) ♡
- Clinical features, quality of life, and fatigue in children with myotonic dystrophy type 1: A cross-sectional study. (2026/01/01) ♡
- 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. Pathological mechanism in Fuchs endothelial corneal dystrophy and myotonic dystrophy type 1: more than meets the eye. (2026/01/01) ♡
- 287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28-30 March 2025. (2026/01/01) ♡
- Neural damage and inflammation in myotonic dystrophy type 1: Longitudinal analysis of serum NFL, GFAP, and IL-6. (2026/01/01) ♡
- Transcriptome-wide isoform and promoter remodeling in DM1 fibroblasts uncovered by long-read RNA sequencing. (2026/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Clinical features, quality of life, and fatigue in children with myotonic dystrophy type 1. (2026/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Shared decision-making about prolonged invasive ventilation for adults with myotonic dystrophy type 1. (2026/01/01) ♡
- 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. A Study of Long-term Safety and Efficacy of VX-670 in Participants With Myotonic Dystrophy Type I (2026-08-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension (2026-08-06) ♡
- 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) Extension (2026-08-06) ♡
- 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. A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping (2026-08-04) ♡
- 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. Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1 (2026-07-31) ♡
- 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. A Clinical Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1 (2026-07-29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Music Intervention for Brain-Heart Disease in Myotonic Dystrophy Type 1 (DM1) (2026-07-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Ambispective Natural History Study in Myotonic Dystrophy Patients Linking Retrospective Data Captured From the DM-Scope Registry With a Prospective 24-month Follow-up Period (2026-07-28) ♡
- 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. Global Open-Label Extension Study of Del-desiran for the Treatment of DM1 (2026-07-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (2026-07-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Virtual Reality-training in Theory of Mind in the Childhood Form of Myotonic Dystrophy Type 1 (2026-06-29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Observational Study in Adult Patients With Non-dystrophic Myotonic Disorders (2026-06-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Personalized Training for People With Rare Neuromuscular Disorders (2026-06-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) (2026-06-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. DMCRN-02-001: Assessing Pediatric Endpoints in DM1 (2026-06-10) ♡
- 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. A Phase 1/2 Study of VX-670 in Adult Participants With Myotonic Dystrophy 1 (DM1) (2026-06-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy (2026-06-05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1) (2026-06-02) ♡
- 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. A Study to Investigate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants Aged 10 to 55 Years of Age With Non-congenital Myotonic Dystrophy Type 1 (2026-06-01) ♡
- 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. Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO) (2026-05-27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myotonic Dystrophy - Vascular and Cognition (2026-05-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers (2026-05-19) ♡
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