Myotonic dystrophy
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Publications and studies (1161)
- Commentary or editorialiAn expert's opinion or commentary, not new research. Electrophysiologic Consequences and Sudden Death in Myotonic Dystrophy: Beyond the ECG and Toward Precision Medicine. (2021/08/01) ♡
- Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy. (2021/07/29) ♡
- The role of noninvasive ventilation in the management of type II respiratory failure in patients with myotonic dystrophy. (2021/07/26) ♡
- Thymoma-associated myasthenia gravis coexisting with myotonic dystrophy: a case report. (2021/07/08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances. (2021/07/01) ♡
- Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1. (2021/07/01) ♡
- CTG-Repeat Detection in Primary Human Myoblasts of Myotonic Dystrophy Type 1. (2021/06/28) ♡
- A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles. (2021/06/21) ♡
- Quantitative Muscle MRI in Patients with Neuromuscular Diseases-Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region. (2021/06/08) ♡
- 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. Regulatory Potential of Competing Endogenous RNAs in Myotonic Dystrophies. (2021/06/04) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Myotoxic drugs and immunodeficiency may contribute to the poor outcome of COVID-19 patients with myotonic dystrophy. (2021/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Levator palpebrae superioris muscle advancement for Steinert myotonic dystrophy eyelid ptosis. (2021/06/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease: Sleepiness and role of Epworth Sleepiness Scale. (2021/05/01) ♡
- Type 1 Myotonic Dystrophy Presenting with Bulbar Weakness without Myotonia. (2021/05/01) ♡
- Characterization of individuals with selected muscular dystrophies from the expanded pilot of the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) in the United States. (2021/04/15) ♡
- 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 hallmarks of myotonic dystrophy type 1 muscle dysfunction. (2021/04/01) ♡
- Gender effect on cardiac involvement in myotonic dystrophy type 1. (2021/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply to the Editor-Mexiletine in myotonic dystrophy: Beware of ventricular arrhythmias! (2021/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. To the Editor-Mexiletine in myotonic dystrophy: Beware of ventricular arrhythmias! (2021/04/01) ♡
- 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. Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert's disease: A case of triple dystrophy. (2021/03/01) ♡
- Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases. (2021/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dual hereditary and immune-mediated neuromuscular diagnoses after cancer immunotherapy. (2021/03/01) ♡
- 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. Review: Preimplantation genetic diagnosis (PGD) as a reproductive option in patients with neurodegenerative disorders. (2021/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dual molecular diagnoses in a neurometabolic specialty clinic. (2021/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A DM1 patient with CCG variant repeats: Reaching the diagnosis. (2021/03/01) ♡
- Isokinetic strength and degeneration of lower extremity muscles in patients with myotonic dystrophy; an MRI study. (2021/03/01) ♡
- 12-Month progression of motor and functional outcomes in congenital myotonic dystrophy. (2021/03/01) ♡
- Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study. (2021/02/01) ♡
- Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis. (2021/02/01) ♡
- The sustained expression of Cas9 targeting toxic RNAs reverses disease phenotypes in mouse models of myotonic dystrophy type 1. (2021/02/01) ♡
- 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. Repeat RNA expansion disorders of the nervous system: post-transcriptional mechanisms and therapeutic strategies. (2021/02/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A transgenic cell line with inducible transcription for studying (CGG)n repeat expansion mechanisms. (2021/02/01) ♡
- A Small Molecule that Binds an RNA Repeat Expansion Stimulates Its Decay via the Exosome Complex. (2021/01/21) ♡
- Cancer frequency among the patients with myotonic dystrophy in the South Korean population using the national health insurance database. (2021/01/15) ♡
- 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. Mexiletine in Myotonic Dystrophy Type 1: A Randomized, Double-Blind, Placebo-Controlled Trial. (2021/01/12) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply. (2021/01/08) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Ocular findings in patients affected by myotonic dystrophy. (2021/01/08) ♡
- Performance of diagnostic ultrasound to identify causes of hydramnios. (2021/01/01) ♡
- Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I. (2021/01/01) ♡
- Adaptive skills and mental health in children and adolescents with neuromuscular diseases. (2021/01/01) ♡
- The prevalence of hereditary neuromuscular disorders in Northern Norway. (2021/01/01) ♡
- 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. Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy. (2021/01/01) ♡
- Multifocal Noninvasive Magnetic Stimulation of the Primary Motor Cortex in Type 1 Myotonic Dystrophy -A Proof of Concept Pilot Study. (2021/01/01) ♡
- A Multi-Omic Huntington's Disease Transgenic Sheep-Model Database for Investigating Disease Pathogenesis. (2021/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects of a 12-week Strength Training Program in Men With Myotonic Dystrophy Type 1 (2021-12-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2 (ASCEND-DM) (2021-11-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Congenital Muscle Disease Study of Patient and Family Reported Medical Information (2021-08-09) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety, Tolerability and Pharmacokinetics of ERX-963 in Adults With Myotonic Dystrophy Type 1 (2021-06-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Sudden Cardiac Death Stratification in Myotonic Dystrophy Type 1 Patients (2021-06-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) (2021-04-13) ♡
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