Myotonic dystrophy
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Publications and studies (1161)
- 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 Autopsy Case of Myotonic Dystrophy Type 1 With Pancreatic Intraductal Papillary Mucinous Neoplasm. (2024/09/26) ♡
- CTG repeat length underlying cardiac events and sudden death in myotonic dystrophy type 1. (2024/09/18) ♡
- Survival in myotonic dystrophy type 1: a long time follow up-study with special reference to gastrointestinal symptoms. (2024/09/17) ♡
- Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells. (2024/09/15) ♡
- Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy. (2024/09/14) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Alternative splicing dysregulation across tissue and therapeutic approaches in a mouse model of myotonic dystrophy type 1. (2024/09/13) ♡
- Effect of exercise training on clinical and physiological variables in adults with myotonic dystrophy type 1: A systematic review protocol. (2024/09/12) ♡
- The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania. (2024/09/09) ♡
- Investigation of Glucose Metabolism by Continuous Glucose Monitoring and Validation of Dipeptidyl Peptidase 4 Inhibitor Use in Patients with Myotonic Dystrophy Type 1. (2024/09/05) ♡
- Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort. (2024/09/04) ♡
- Computational identification and molecular dynamics simulation of potential circularRNA derived peptide from gene expression profile of Rheumatoid arthritis, Alzheimer's disease, and Atrial fibrillation. (2024/09/01) ♡
- Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands. (2024/09/01) ♡
- Myotonic Dystrophy Type 1 With Cerebellar Ataxia and Cerebellar Atrophy. (2024/09/01) ♡
- 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. Common Characteristics Between Frailty and Myotonic Dystrophy Type 1: A Narrative Review. (2024/08/29) ♡
- NMR structures and magnetic force spectroscopy studies of small molecules binding to models of an RNA CAG repeat expansion. (2024/08/21) ♡
- Zfp697 is an RNA-binding protein that regulates skeletal muscle inflammation and remodeling. (2024/08/20) ♡
- Characterization of the neuropathic pain component contributing to myalgia in patients with myotonic dystrophy type 1 and 2. (2024/08/13) ♡
- Hereditary sensory autonomic neuropathy type VI in the age of genetic testing. (2024/08/11) ♡
- In Myotonic Dystrophy Type 1 Head Repositioning Errors Suggest Impaired Cervical Proprioception. (2024/08/09) ♡
- Ventricular stimulation in patients with myotonic dystrophy type 1 may not predict future ventricular arrhythmias. (2024/08/09) ♡
- Psychosocial functioning in patients with altered facial expression: a scoping review in five neurological diseases. (2024/08/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Msi2 enhances muscle dysfunction in a myotonic dystrophy type 1 mouse model. (2024/08/01) ♡
- Developing small Cas9 hybrids using molecular modeling. (2024/07/26) ♡
- A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned. (2024/07/22) ♡
- Resolving the chromatin impact of mosaic variants with targeted Fiber-seq. (2024/07/13) ♡
- RNA mis-splicing in children with myotonic dystrophy is associated with physical function. (2024/07/03) ♡
- 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. Excessive daytime sleepiness in myotonic dystrophy: a narrative review. (2024/07/01) ♡
- 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. A Systematic Review on the Application of Virtual Reality for Muscular Dystrophy Rehabilitation: Motor Learning Benefits. (2024/06/22) ♡
- Recurrent pulmonary embolism complicated with myotonic dystrophy type 1. (2024/06/14) ♡
- Translation, reliability, and validity of the Norwegian version of the ABILHAND-NMD and the ACTIVLIM for Myotonic Dystrophy type 1. (2024/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy. (2024/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Benefits of Inspiratory Muscle Training in Myotonic Dystrophy: A Case Report. (2024/05/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case report of congenital myotonic dystrophy with multiple prenatal sonographic findings. (2024/04/29) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. COVID-19 and myotonic dystrophy type 1: Case report. (2024/04/01) ♡
- A retrospective study of accuracy and usefulness of electrophysiological exercise tests. (2024/04/01) ♡
- Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA sequencing. (2024/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Differences in respiratory function, depressive symptoms and quality of life between patients with hereditary motor and sensory neuropathy and myotonic dystrophy undergoing maintenance rehabilitation. (2024/03/01) ♡
- Afterdischarges in myotonic dystrophy type 1. (2024/02/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Further insights into afterdischarges as a diagnostic marker for myotonic dystrophy type 1. (2024/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Efficacy of methylphenidate treatment in childhood myotonic dystrophy type 1 and comorbid attention deficit hyperactivity disorder: A case report using eye tracking assessment. (2024/02/01) ♡
- Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1. (2024/02/01) ♡
- Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report. (2024/02/01) ♡
- Mexiletine in Myotonic Dystrophy Type 1: A Randomized, Double-Blind, Placebo-Controlled Trial. (2024/01/23) ♡
- Genetic and sporadic forms of tauopathies-TAU as a disease driver for the majority of patients but the minority of tauopathies. (2024/01/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Integrative Proteogenomics for Differential Expression and Splicing Variation in a DM1 Mouse Model. (2024/01/01) ♡
- Myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital. (2024/01/01) ♡
- Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study. (2024/01/01) ♡
- The Role of Cognition, Affective Symptoms, and Apathy in Treatment Adherence with Noninvasive Home Mechanical Ventilation in Myotonic Dystrophy. (2024/01/01) ♡
- Inherited myotonias. (2024/01/01) ♡
- Breathing disorders during sleep in patients with dystrophic myotonia. (2024/01/01) ♡
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