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Myotonic dystrophy

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (37)Meta-analysis (7)Treatment guideline (7)Systematic review (11)Randomized trial (7)Phase 3 study (5)Clinical trial (148)Review article (142)Early study (phase 1 or 2) (12)Case report (114)Laboratory or animal study (33)Commentary or editorial (59)Retracted publication (1) Studies currently recruiting participants only (33)

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Publications and studies (1161)

• Aberrant Myokine Signaling in Congenital Myotonic Dystrophy. (2017/10/31) ♡
• CELF1 Mediates Connexin 43 mRNA Degradation in Dilated Cardiomyopathy. (2017/10/27) ♡
• BNA(NC) Gapmers Revert Splicing and Reduce RNA Foci with Low Toxicity in Myotonic Dystrophy Cells. (2017/10/20) ♡
• Investigation of the molecular mechanisms underlying myotonic dystrophy types 1 and 2 cataracts using microRNA‑target gene networks. (2017/10/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Corneal Endothelial Dystrophy Associated With Myotonic Dystrophy: A Report of 2 Cases. (2017/10/01) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. The cognitive profile of myotonic dystrophy type 1: A systematic review and meta-analysis. (2017/10/01) ♡
• 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. DNA mismatch repair in trinucleotide repeat instability. (2017/10/01) ♡
• 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. Neuromuscular Disorders and the Role of the Clinical Electrophysiologist. (2017/10/01) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association. (2017/09/26) ♡
• High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. (2017/09/26) ♡
• Hyperostosis Frontalis Interna in Myotonic Dystrophy. (2017/09/15) ♡
• Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle. (2017/09/15) ♡
• RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. (2017/09/13) ♡
• A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)(n) Repeats Associated with Friedreich's Ataxia. (2017/09/05) ♡
• Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies. (2017/09/01) ♡
• Evolving Motivations: Patients' and Caregivers' Perceptions About Seeking Myotonic Dystrophy (DM1) and Huntington's Disease Care. (2017/09/01) ♡
• 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. Global muscular dystrophy research: A 25-year bibliometric perspective. (2017/09/01) ♡
• Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy. (2017/09/01) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Brain imaging in myotonic dystrophy type 1: A systematic review. (2017/08/29) ♡
• 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 biology of disease-associated microsatellite repeat expansions. (2017/08/29) ♡
• Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9. (2017/08/24) ♡
• RNA fluorescence in situ hybridization for high-content screening. (2017/08/15) ♡
• Structural Basis for Interaction of the Tandem Zinc Finger Domains of Human Muscleblind with Cognate RNA from Human Cardiac Troponin T. (2017/08/15) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Myotonic dystrophy—Beyond the limbs. (2017/07/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Author's Reply: Myotonic dystrophy: The occurrence of early-onset cataract. (2017/07/01) ♡
• The proposal of a clinical protocol to assess central and peripheral fatigue in myotonic dystrophy type 1. (2017/07/01) ♡
• Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy. (2017/07/01) ♡
• Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy. (2017/06/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Congenital myotonic dystrophy—an RNA-mediated disease across a developmental continuum. (2017/06/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myotonic Dystrophy Type 1 Clinical, Electrophysiological and Molecular Characterization: Experience at Tertiary Care Centre. (2017/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Use of Sugammadex in a Patient with Myotonic Dystrophy Undergoing Laparoscopic Cholecystectomy. (2017/05/01) ♡
• 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. Steinert syndrome and repercussions in dental medicine. (2017/03/01) ♡
• Personality traits in patients with myotonic dystrophy type 2. (2017/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Effect on lung function of mouthpiece ventilation in Steinert disease. A case report. (2017/03/01) ♡
• Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability. (2017/02/13) ♡
• Spinal Muscular Atrophy Type I: Is It Ethical to Standardize Supportive Care Intervention in Clinical Trials? (2017/02/01) ♡
• Cutaneous manifestations in Steinert's disease. Apropos of four clinical cases. (2017/01/01) ♡
• Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients. (2017/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive (2017-11-20) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Multicenter Observational Study of Myotonic Dystrophy Type 1 (2017-10-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Observational Prolonged Trial in Myotonic Dystrophy Type 1 (2017-07-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Venous Thromboembolism in DM1 (2017-05-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy (2017-03-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders (2017-01-13) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Compare Train and 3D-4D Left Ventricular Systolic Function in Subjects Suffering From Dystrophy and Healthy Subjects (2016-10-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Quality of Life in Neuromuscular Disease (2016-09-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Lamotrigine as Treatment of Myotonia (2016-04-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study (2016-04-06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- (2016-03-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders (2015-05-28) ♡

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