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. Improved grip myotonia in a patient with myotonic dystrophy type 1 following electroacupuncture therapy: A CARE-compliant case report. (2020/09/11) ♡
- Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy. (2020/09/04) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Multiple Pilomatricomas in Twins with Rubinstein-Taybi Syndrome. (2020/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1. (2020/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Expiratory Muscle Strength Training Improves Measures of Pressure Generation and Cough Strength in a Patient with Myotonic Dystrophy Type 1. (2020/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Predictors of Prognosis in Type 1 Myotonic Dystrophy (DM1): Longitudinal 18-Years Experience from a Single Center. (2020/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Silent Dysphagia in Two Patients with Steinert Disease and Recurrent Respiratory Exacerbations. (2020/09/01) ♡
- Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1. (2020/08/13) ♡
- Variant Repeats within the DMPK CTG Expansion Protect Function in Myotonic Dystrophy Type 1. (2020/08/12) ♡
- Diabetes, Metformin and Cancer Risk in Myotonic Dystrophy Type I. (2020/08/01) ♡
- Usefulness of Neuromuscular Co-morbidity, Left Bundle Branch Block, and Atrial Fibrillation to Predict the Long-Term Prognosis of Left Ventricular Hypertrabeculation/Noncompaction. (2020/08/01) ♡
- Responsiveness of Outcome Measures in Myotonic Dystrophy Type 1. (2020/08/01) ♡
- Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders. (2020/08/01) ♡
- Optimization of the Linker Domain in a Dimeric Compound that Degrades an r(CUG) Repeat Expansion in Cells. (2020/07/23) ♡
- Impact of Prematurity and the CTG Repeat Length on Outcomes in Congenital Myotonic Dystrophy. (2020/07/23) ♡
- Three-Dimensional Imaging in Myotonic Dystrophy Type 1: Linking Molecular Alterations with Disease Phenotype. (2020/07/21) ♡
- MBNL1 Reverses the Proliferation Defect of Skeletal Muscle Satellite Cells in Myotonic Dystrophy Type 1 by Inhibiting Autophagy via the mTOR Pathway. (2020/07/18) ♡
- Resection and Repair of a Cas9 Double-Strand Break at CTG Trinucleotide Repeats Induces Local and Extensive Chromosomal Deletions. (2020/07/16) ♡
- Three-Dimensional Chromatin Interactions Remain Stable upon CAG/CTG Repeat Expansion. (2020/07/03) ♡
- Learnings from Patient-Report Workshop on Disease Progression in Myotonic Dystrophy. (2020/07/01) ♡
- Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks. (2020/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy. (2020/07/01) ♡
- Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders. (2020/06/26) ♡
- Daily Activity Performance in Congenital and Childhood Forms of Myotonic Dystrophy Type 1: A Population-Based Study. (2020/06/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Understanding Factors Hampering Activities of Daily Living Performance in Childhood-Onset Myotonic Dystrophy Phenotypes. (2020/06/01) ♡
- Meet and eat, an interdisciplinary group intervention for patients with myotonic dystrophy about healthy nutrition, meal preparation, and consumption: a feasibility study. (2020/06/01) ♡
- Efficacy and Safety of Ropivacaine HCl in Peribulbar Anaesthesia for Cataract Surgery in Patients with Myotonic Dystrophy Type 1. (2020/06/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Outcome of Myotonic Dystrophy 1 Depends on Comprehensive Diagnostic and Therapeutic Management. (2020/06/01) ♡
- Hormonal and Metabolic Gender Differences in a Cohort of Myotonic Dystrophy Type 1 Subjects: A Retrospective, Case-Control Study. (2020/05/01) ♡
- The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1. (2020/05/01) ♡
- The Impact of Parental Unaffected Allele Combination on the Diagnostic Outcome in the Preimplantation Genetic Testing for Myotonic Dystrophy Type 1 in Japanese Ancestry. (2020/04/29) ♡
- Systemic Evaluation of Chimeric LNA/2'-O-Methyl Steric Blockers for Myotonic Dystrophy Type 1 Therapy. (2020/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Affection of the Gastrointestinal Smooth Muscles in Myotonic Dystrophy Is Not Unusual. (2020/03/15) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Secondary Achalasia in Myotonic Dystrophy May Have a Different Pathology and Management. (2020/03/15) ♡
- miR-7 Restores Phenotypes in Myotonic Dystrophy Muscle Cells by Repressing Hyperactivated Autophagy. (2020/03/06) ♡
- Age-Related Cognitive Decline in Myotonic Dystrophy Type 1: An 11-Year Longitudinal Follow-Up Study. (2020/03/01) ♡
- Antioxidant Imbalance in the Erythrocytes of Myotonic Dystrophy Type 1 Patients. (2020/02/15) ♡
- A DM1 Family with Interruptions Associated with Atypical Symptoms and Late Onset but Not with a Milder Phenotype. (2020/02/01) ♡
- A Role for Cannabinoids in the Treatment of Myotonia? Report of Compassionate Use in a Small Cohort of Patients. (2020/02/01) ♡
- Predicting Daytime Sleepiness and Fatigue: A 9-Year Prospective Study in Myotonic Dystrophy Type 1. (2020/02/01) ♡
- Myotonic Dystrophy Type 1 Alters Muscle Twitch Properties, Spinal Reflexes, and Perturbation-Induced Trans-Cortical Reflexes. (2020/02/01) ♡
- Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1. (2020/02/01) ♡
- Spectral domain optical coherence tomography findings in myotonic dystrophy. (2020/02/01) ♡
- 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. RNA toxicity in non-coding repeat expansion disorders. (2020/01/02) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Achalasia in a Patient with Myotonic Dystrophy. (2020/01/01) ♡
- 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. Syndromes associated with multiple pilomatricomas: When should clinicians be concerned? (2020/01/01) ♡
- Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study. (2020/01/01) ♡
- Characteristics of respiratory muscle involvement in myotonic dystrophy type 1. (2020/01/01) ♡
- Study of expression of genes potentially responsible for reduced fitness in patients with myotonic dystrophy type 1 and identification of new biomarkers of testicular function. (2020/01/01) ♡
- Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy. (2020/01/01) ♡
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