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Myotonic dystrophy

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (37)Meta-analysis (7)Treatment guideline (7)Systematic review (11)Randomized trial (7)Phase 3 study (5)Clinical trial (148)Review article (142)Early study (phase 1 or 2) (12)Case report (114)Laboratory or animal study (33)Commentary or editorial (59)Retracted publication (1) Studies currently recruiting participants only (33)

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Publications and studies (1161)

• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Open Label Study in Adolescents and Children With Myotonic Disorders (2024-11-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myotonic Dystrophy Family Registry (2024-11-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Wheelchair Skills Training for People with ARSACS and DM1 (2024-09-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Risk of Falls Index for Patients With Neuromuscular Disorders (2024-09-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Trial Readiness and Endpoint Assessment in Congenital and Childhood Myotonic Dystrophy (2024-07-05) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Technology Assisted Rehabilitation for Upper Limb Function in Myotonic Dystrophy Type 1 (2024-05-14) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study to Investigate the Efficacy and Safety of Mexiletine in Patients With Myotonic Dystrophy Type 1 and Type 2 (2024-05-06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation [MDCJ-NeuBeRe] (2024-04-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions (2024-04-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of Cognitive Functions in 20 Patients With Type 1 Myotonic Dystrophy With Virtual Reality Approach (2024-02-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Poor Neck Proprioception May Cause Balance Deficits in Myotonic Dystrophy 1 (2024-02-20) ♡
• Erythromycin for myotonic dystrophy type 1: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. (2023/12/26) ♡
• The Muscleblind-like protein MBL-1 regulates microRNA expression in Caenorhabditis elegans through an evolutionarily conserved autoregulatory mechanism. (2023/12/22) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late-Onset Proximal Myotonic Myopathy (PROMM): A Rare Presentation in an Adult. (2023/12/18) ♡
• Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA). (2023/12/08) ♡
• Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies. (2023/12/01) ♡
• Executive functions and daily functioning in myotonic dystrophy type 1 ecological assessment with virtual reality. (2023/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Acute cricopharyngeal achalasia after general anesthesia in myotonic dystrophy: A case report. (2023/12/01) ♡
• Acute leg pain and weakness in pregnancy: A new diagnosis of myotonic dystrophy. (2023/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ultra-widefield imaging and peripheral optical coherence tomography of peripheral reticular pigmentary degeneration (PRPD) in myotonic dystrophy. (2023/11/30) ♡
• Enhancing evidence-informed policymaking in medicine and healthcare: stakeholder involvement in the Commons Project for rare diseases in Japan. (2023/11/29) ♡
• A cyclic pyrrole-imidazole polyamide reduces pathogenic RNA in CAG/CTG triplet repeat neurological disease models. (2023/11/15) ♡
• Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy. (2023/11/07) ♡
• MRCK activates mouse oocyte myosin II for spindle rotation and male pronucleus centration. (2023/11/06) ♡
• Myospreader improves gene editing in skeletal muscle by myonuclear propagation. (2023/11/06) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Comprehensive pathological and genetic investigation of three young adult myotonic dystrophy type 1 patients with sudden unexpected death. (2023/11/01) ♡
• Prevalence of Neuromuscular Diseases in Young South Korean Males; A Korean Military Manpower Administration and Medical Command Data-Based Study. (2023/11/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characterization of theory of mind performance in patients with myotonic dystrophy type 1. (2023/11/01) ♡
• Trunk muscle dysfunction in patients with myotonic dystrophy type 2 and its contribution to chronic low back pain. (2023/10/26) ♡
• Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy. (2023/10/23) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Treatment of bilateral encrusted ureteral stents, large volume renal stones, and ureteral stricture in a complex pediatric patient: a surgical video and case review. (2023/10/15) ♡
• PPP1R12C Promotes Atrial Hypocontractility in Atrial Fibrillation. (2023/10/13) ♡
• CAG repeat expansion in the Huntington's disease gene shapes linear and circular RNAs biogenesis. (2023/10/13) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Small bowel obstruction secondary to phytobezoar in a patient with myotonic dystrophy. (2023/10/05) ♡
• Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation. (2023/10/01) ♡
• Three-dimensional quantitative muscle ultrasound in patients with facioscapulohumeral dystrophy and myotonic dystrophy. (2023/10/01) ♡
• 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. The current clinical perception of myotonic dystrophy type 2. (2023/10/01) ♡
• A highly sensitive and quantitative assay for dystrophin protein using Single Molecule Count Technology. (2023/10/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Suitability of the Respicheck questionnaire and Epworth sleepiness scale for therapy monitoring in myotonic dystrophy type 1. (2023/10/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A). (2023/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An Unusual Case of Hybrid Odontogenic Tumor in Type 1 Myotonic Dystrophy Patient. (2023/10/01) ♡
• Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls. (2023/09/27) ♡
• Structure and Dynamics of DNA and RNA Double Helices Formed by d(CTG), d(GTC), r(CUG), and r(GUC) Trinucleotide Repeats and Associated DNA-RNA Hybrids. (2023/09/21) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Electrophysiological basis of cardiac arrhythmia in a mouse model of myotonic dystrophy type 1. (2023/09/21) ♡
• Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels. (2023/09/18) ♡
• 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. Modeling Myotonic Dystrophy Type 2 Using Drosophila melanogaster. (2023/09/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Obstructive Sleep Apnea Treatment with Oral Appliance in a Myotonic Dystrophy Type I Subject: A Case Report. (2023/09/11) ♡
• Psychological Factors Influencing Adherence to NIV in Neuromuscular Patients Dependent on Non Invasive Mechanical Ventilation: Preliminary Results. (2023/09/09) ♡
• Peptide-conjugated antimiRs improve myotonic dystrophy type 1 phenotypes by promoting endogenous MBNL1 expression. (2023/09/05) ♡
• 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. [Eye disease with myotonic dystrophy type 1]. (2023/09/04) ♡

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