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Muscles and connective tissue
Myotonic dystrophy
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Publications and studies (1161)
- 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) ♡
- Unusual dermoscopic features of multiple pilomatricomas, including a rare bullous variant. (2025/11/04) ♡
- 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 dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives. (2025/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1. (2025/11/01) ♡
- 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. Myopathies: Radiologist's Essential Tips for Clinical, Pathologic, and Imaging Findings. (2025/11/01) ♡
- 284th ENMC International Workshop: Cognitive and behavioral abnormalities in pediatric DM1; what should we measure in preparation for clinical trials? Hoofddorp, The Netherlands, January 24-26 2025. (2025/11/01) ♡
- 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 Mutations to Microbes: Investigating the Impact of the Gut Microbiome on Repeat Expansion Disorders. (2025/11/01) ♡
- Neuropsychological and behavioral outcomes in childhood-onset myotonic dystrophy type 1 through lifespan: a scoping review. (2025/11/01) ♡
- 288(th) ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. 16-18 May 2025, Hoofddorp, the Netherlands. (2025/11/01) ♡
- Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States. (2025/10/28) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Massive Splenic Infarction: A Rare Entity in a Female Teenager. (2025/10/28) ♡
- Comparative Analysis of CRISPR/Cas9-targeted Nanopore Sequencing Approaches in Repeat Expansion Disorders. (2025/10/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Corpus Callosum Diffusion Restriction in Neonatal Congenital Myotonic Dystrophy. (2025/10/17) ♡
- Cortical thinning and white matter alterations in myotonic dystrophy type 2 over a 10-year period. (2025/10/15) ♡
- Autoimmunity-associated DIORA1 binds the MRCK family of serine/threonine kinases and controls cell motility. (2025/10/07) ♡
- Synthesis of Janus Bases for Targeting C‑G and U-U Pairs of CUG-RNA Repeats Associated with Myotonic Dystrophy Type 1. (2025/10/06) ♡
- 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 Dystrophy. (2025/10/01) ♡
- Automated Classification of Neuromuscular Diseases Using Thigh Muscle MRI With Model Interpretations. (2025/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Gastrointestinal Manifestations As the Initial Presentation of Neurological Disease. (2025/09/30) ♡
- 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 Dystrophy Type 2. (2025/09/25) ♡
- A Live-Cell NanoBRET Assay to Monitor RNA-Protein Interactions and Their Inhibition by Small Molecules. (2025/09/25) ♡
- Discovery of RNA-Reactive Small Molecules Guides the Design of Electrophilic Modules for RNA-Specific Covalent Binders. (2025/09/24) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Non-muscle myosin II-dependent cumulus cell migration at ovulation is required for sperm to reach the egg in mice. (2025/09/24) ♡
- Effectiveness of the capability approach in rehabilitation for persons with neuromuscular diseases: A controlled before-after study. (2025/09/23) ♡
- Elimination of myotonia improves myopathy in a muscleblind knockout model of myotonic dystrophy. (2025/09/21) ♡
- Streamlined Fragment-Based Discovery Platform for Targeting Structured RNAs. (2025/09/19) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Zero-fluoroscopy catheter ablation of maternal atrial arrhythmias during pregnancy in a patient with myotonic dystrophy. (2025/09/16) ♡
- Expert consensus on the diagnosis and treatment of sleep-disordered breathing related to neuromuscular diseases. (2025/09/12) ♡
- Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis. (2025/09/12) ♡
- 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. Efficacy and safety of respiratory strength and endurance training in patients with myotonic dystrophy type 1 (DM1): a randomized controlled trial. (2025/09/11) ♡
- 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 advances in type 1 myotonic dystrophy complicated with type 2 diabetes mellitus. (2025/09/11) ♡
- Adherence to Non-Invasive Ventilation in Steinert Disease: Clinical and Psychological Insights. (2025/09/06) ♡
- Video-Based Biomechanical Analysis Captures Disease-Specific Movement Signatures of Different Neuromuscular Diseases. (2025/09/01) ♡
- 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. Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy. (2025/09/01) ♡
- Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy. (2025/08/27) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Muscle-driven spinal cord histological and transcriptomic alterations in a myotonic dystrophy mouse model: insights into neuropathy. (2025/08/25) ♡
- Population Pharmacokinetics of Tideglusib in Congenital and Childhood Myotonic Dystrophy Type 1: Influence of Demographic and Clinical Factors on Systemic Exposure. (2025/08/16) ♡
- Differential pathology and susceptibility to MBNL loss across muscles in myotonic dystrophy mouse models. (2025/08/14) ♡
- Promoter-targeted small RNA duplexes increase MBNL1 transcription and mitigate myotonic dystrophy-associated spliceopathy. (2025/08/11) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Three cases of pregnancies complicated with myotonic dystrophy type 1. (2025/08/01) ♡
- 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. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome. (2025/08/01) ♡
- Measuring Myotonia: Normative Values and Comparison with Myotonic Dystrophy Type 1. (2025/07/31) ♡
- circARHGAP10 as a candidate biomarker and therapeutic target in myotonic dystrophy type 1. (2025/07/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Aphasia Leading to the Diagnosis of Myotonic Dystrophy Type 1: A Case Report. (2025/07/29) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC). (2025/07/01) ♡
- Characterization of DMPK and MBNL1 expression in cell models of myotonic dystrophy: a platform for drug screening. (2025/06/20) ♡
- Living with adult-onset myotonic dystrophy type 1: a scoping review. (2025/05/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. In Vivo-Like Scaffold-Free 3D In Vitro Models of Muscular Dystrophies: The Case for Anchored Cell Sheet Engineering in Personalized Medicine. (2025/05/01) ♡
- Analysis of Corneal Phenotypes in Japanese Patients With Myotonic Dystrophy Type 1. (2025/04/01) ♡
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