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Myotonic dystrophy

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All (1160)Publications (1018)Studies (142)

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Publications and studies (1160)

Clinical and healthcare burden of myotonic dystrophy type 1 (DM1) in the United States: a claims-based study. (2026/12/01) ♡
Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease. (2026/09/01) ♡
Gynecological and Obstetrical Issues Experienced by Women Diagnosed with Myotonic Dystrophy Type 1: A Scoping Review. (2026/09/01) ♡
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. Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial. (2026/09/01) ♡
Tissue-specific CTG•CAG expansion rate and disease severity are modified by DNA repair genes expression levels in myotonic dystrophy type 1 patients. (2026/09/01) ♡
Natural History of Adult-Onset Myotonic Dystrophy Type 1: Longitudinal Changes in Radiologic, Clinical, and Patient-Reported Outcomes. (2026/08/25) ♡
Enhanced antisense oligonucleotide delivery reveals that transcript turnover impacts apparent splicing rescue in myotonic dystrophy. (2026/08/05) ♡
Total energy expenditure assessed by doubly labeled water in patients with myotonic dystrophy type 1: Associations with body composition and functional status. (2026/08/05) ♡
A bitter melon natural compound ameliorates the myotonic dystrophy type 1 skeletal muscle phenotype in a sex-specific manner. (2026/08/03) ♡
Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation and characterization of two human induced pluripotent stem cell lines from myotonic dystrophy type 1 patients. (2026/08/01) ♡
Generation of iPSC lines from myotonic dystrophy type 1 patients with varying CTG repeat lengths. (2026/08/01) ♡
MRI-Determined Muscle Fat Fractions and Contractile Volumes in Myotonic Dystrophy Type 2. (2026/08/01) ♡
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. Aquatic training improves muscle strength and functional mobility in adults with myotonic dystrophy type 1: a pilot randomized trial. (2026/08/01) ♡
3D Radiomic Texture Analysis of Quantitative Muscle MRI Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot-Marie-Tooth Neuropathy Type 1A: A Proof-of-Concept Study. (2026/08/01) ♡
Energy expenditure and the accuracy of predictive equations in myotonic dystrophy type 1. (2026/07/31) ♡
Gastrointestinal manifestations are common and highly burdensome in patients with adult-onset myotonic dystrophy type 1. (2026/07/30) ♡
Bis(monoacylglycero)phosphate (BMP) as a circulating biomarker of lysosomal dysfunction in GNE myopathy. (2026/07/25) ♡
Differential expression of microRNAs and other small RNAs in the serum of patients with myotonic dystrophy type 1 and facioscapulohumeral muscular dystrophy type 1. (2026/07/24) ♡
Fatty-acid-based antimiR-23b delivery in the DMSXL model: A potential therapeutic strategy for brain dysfunction in myotonic dystrophy type 1. (2026/07/22) ♡
HSP90 Inhibition Partially Rescues Alternative Splicing Dysregulation in Cell Models of Myotonic Dystrophy. (2026/07/22) ♡
Genotype-phenotype relationship in a cohort of 131 Chinese patients with myotonic dystrophy type 1. (2026/07/18) ♡
Cardiac pacing in myotonic dystrophy type 1: a retrospective cohort study on indications, diagnostic modalities, and long-term outcomes. (2026/07/17) ♡
Anesthetic Consideration of Patient With Myotonic Dystrophy Type 1: A Case Report and Review of Literature. (2026/07/17) ♡
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. Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies. (2026/07/16) ♡
Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy. (2026/07/08) ♡
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. Convergent innate immune and regulated cell-death pathways in selected myopathies. (2026/07/08) ♡
Atypical Phenotype of Myotonic Dystrophy Type 1 with Variant Repeats at the Age of Diagnosis. (2026/07/06) ♡
Myotonic dystrophy family registry. The patient experience. (2026/07/05) ♡
Psychometric Properties of MFM32 in Myotonic Dystrophy Type 1. (2026/07/01) ♡
Delpacibart etedesiran improves the molecular pathology of myotonic dystrophy type 1 in the phase 1/2 MARINA study. (2026/07/01) ♡
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. Therapeutic Strategies Targeting the Molecular Pathogenesis of Myotonic Dystrophy Type 1: Current Status and Future Directions. (2026/07/01) ♡
Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1. (2026/07/01) ♡
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. Systematic mapping of rare genetic disease studies using UK primary care electronic health records. (2026/07/01) ♡
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 myotonic dystrophy type 1 drug development pipeline: 2026 Edition. (2026/07/01) ♡
Recognizing repeat expansion disorders in clinical practice. (2026/07/01) ♡
Spectrum of potentially lethal cardiac conditions presenting with fetal sinus bradycardia: a report on 34 cases. (2026/07/01) ♡
A new era for myotonic dystrophy: Improved delivery of a DMPK-targeted oligonucleotide modulates muscle transcriptomes and function. (2026/07/01) ♡
Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC models. (2026/07/01) ♡
Bottlebrush polymer conjugates for enhanced antisense oligonucleotide therapy in myotonic dystrophy type 1. (2026/06/22) ♡
Generation of isogenic rescue iPSC lines by targeted CTG-repeat excision for myotonic dystrophy type 1. (2026/06/19) ♡
Exploring barriers to clinical trial readiness among the myotonic dystrophy community: a mixed-methods study. (2026/06/18) ♡
Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey. (2026/06/16) ♡
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. Current biomarker development in myotonic dystrophies. (2026/06/14) ♡
Antisense-mediated gene therapy targeting DMPK restores cardiac ion channel function and electrical stability in myotonic dystrophy type 1. (2026/06/04) ♡
Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Chylous Collection in the Pacemaker Pocket Masquerading as Infection. (2026/06/03) ♡
Health-related quality of life, pain, and fatigue in myotonic dystrophy type 2: a 13-year follow-up study. (2026/06/01) ♡
Intraocular pressure and corneal biomechanics in patients affected by myotonic dystrophy type 1. (2026/06/01) ♡
Phonatory assessments in patients with slowly progressive neuromuscular disorders: a new tool for evaluating inspiratory muscle dysfunction. (2026/06/01) ♡
Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe Focal Abdominal Weakness Presenting as an Abdominal Hernia. (2026/06/01) ♡
Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development. (2026/06/01) ♡

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