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Muscles and connective tissue
Myotonic dystrophy
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Publications and studies (1161)
- 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. Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy. (2025/04/01) ♡
- 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. Atypical Forms of Diabetes. (2025/03/10) ♡
- Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1. (2025/03/01) ♡
- Clinical genetic approaches to the management of patients with myotonic dystrophy type 1 and their families. (2025/03/01) ♡
- 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. Rbm24-mediated post-transcriptional regulation of skeletal and cardiac muscle development, function and regeneration. (2025/03/01) ♡
- 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. New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target. (2025/03/01) ♡
- 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. Newborn screening and rapid genomic diagnosis of neuromuscular diseases. (2025/03/01) ♡
- Diagnostic Crossroads: Coexistence of Myotonic Dystrophy Type 1 and Hirayama Disease in a Case Report. (2025/03/01) ♡
- Myotonic dystrophy-related CDC42-binding kinase alpha (MRCKα) mediates methionine- and leucine-stimulated β-casein synthesis in bovine mammary epithelial cells via targeting mTOR. (2025/02/15) ♡
- Mortality Trends and Causes of Death in Myotonic Dystrophy Type 1 Patients From the UK Clinical Practice Research Datalink. (2025/02/01) ♡
- Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort. (2025/02/01) ♡
- Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing. (2025/02/01) ♡
- Small Molecule Screening Identifies HSP90 as a Modifier of RNA Foci in Myotonic Dystrophy Type 1. (2025/01/01) ♡
- Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1. (2025/01/01) ♡
- 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. Maternal health and obstetric complications of genetic neuromuscular disorders in pregnancy: A systematic review. (2025/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Ovarian response in preimplantation genetic testing for myotonic dystrophy type 1. (2025/01/01) ♡
- 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. Muscular Dystrophies. (2025/01/01) ♡
- 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. CircularRNA and Musculoskeletal Diseases. (2025/01/01) ♡
- Echocardiographic evaluation of cardiac function in patients with myotonic dystrophy - is the right ventricular dysfunction observed? One academic center experience. (2025/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Laparoscopic Cholecystectomy for a Patient after Percutaneous Endoscopic Gastrostomy due to Myotonic Dystrophy: A Case Report and Literature Review. (2025/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Calcium Channel Blocker in Myotonic Dystrophy Type 1 (2025-12-09) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years (2025-12-05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extracellular RNA Biomarkers of Myotonic Dystrophy (2025-11-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of the Efficacy and Safety of Metformin in the Myotonic Dystrophy Type 1 (Steinert's Disease) (2025-11-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarker Development for Muscular Dystrophies (2025-11-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy (2025-11-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-Term Development of Muscular Dystrophy Outcome Assessments (2025-11-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry (2025-10-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients (2025-10-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy (2025-10-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. NIPD on CFTC for Triplet Repeat Diseases (2025-10-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Venous Thromboembolism in Myotonic Dystrophy Type 1 (2025-09-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy (2025-09-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders (2025-09-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies (2025-08-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology (2025-08-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Profile of Dysphagia in Myotonic Dystrophy Type 1 (DM1) (2025-08-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Tideglusib: Expanded Access Use in Congenital Myotonic Dystrophy (2025-08-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period. (2025-07-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment (2025-06-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy of Tideglusib in Congenital or Childhood Onset Myotonic Dystrophy (2025-05-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study (2025-05-20) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Registered Observational Cohort Study of Myotonic Dystrophy Type 1 (2025-05-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Symptoms and Outcome Measures for Upper- Limb Function in Myotonic Dystrophy Type 1 (2025-04-27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy of Pitolisant on Excessive Daytime Sleepiness and Other Non-Muscular Symptoms in Patients With Myotonic Dystrophy Type 1 (2025-04-25) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Remote Physical Activity Program in the Population Suffering from Type 1 Myotonic Dystrophy (2025-03-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy (2025-03-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Pelvic Floor Muscle Training for Women with Myotonic Dystrophy (2025-02-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases (2025-02-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation (2025-02-07) ♡
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