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Muscles and connective tissue
Myotonic dystrophy
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Publications and studies (1161)
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply: Myotonic Dystrophy and Conduction Disease. (2021/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Mbnl1 and Mbnl2 regulate brain structural integrity in mice. (2021/11/30) ♡
- Time-controlled and muscle-specific CRISPR/Cas9-mediated deletion of CTG-repeat expansion in the DMPK gene. (2021/11/29) ♡
- Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1. (2021/11/25) ♡
- 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. Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease. (2021/11/24) ♡
- 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. Epigenetics of Myotonic Dystrophies: A Minireview. (2021/11/22) ♡
- [Myotonic dystrophy type 1: a series of 107 patients]. (2021/11/16) ♡
- 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. Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1. (2021/11/15) ♡
- [Successful termination of ventricular arrhythmias with implantable cardioverter defibrillator in a patient with myotonic dystrophy]. (2021/11/14) ♡
- 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 Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases. (2021/11/10) ♡
- Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study. (2021/11/08) ♡
- 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. Drosophila Heart as a Model for Cardiac Development and Diseases. (2021/11/08) ♡
- 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. Cardiac Pathology in Myotonic Dystrophy Type 1. (2021/11/02) ♡
- 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. What's new about CNBP? Divergent functions and activities for a conserved nucleic acid binding protein. (2021/11/01) ♡
- [Identification of new factors inducing CTG.CAG repeat contractions in Myotonic Dystrophy type 1]. (2021/11/01) ♡
- [Multidisciplinary care of patients with Myotonic Dystrophy type 1 (DM1) in South Aquitaine]. (2021/11/01) ♡
- Toward Developing Robust Myotonic Dystrophy Brain Biomarkers using White Matter Tract Profiles Sub-Band Energy and A Framework of Ensemble Predictive Learning. (2021/11/01) ♡
- Efficacy and safety of glucocorticoids in the treatment of progressive muscular dystrophy in children: a systematic review and meta-analysis. (2021/11/01) ♡
- 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. Neuromuscular Development and Disease: Learning From in vitro and in vivo Models. (2021/10/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure. (2021/10/25) ♡
- 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. Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children. (2021/10/25) ♡
- Cerebral ventriculomegaly in myotonic dystrophy type 1: normal pressure hydrocephalus-like appearances on magnetic resonance imaging. (2021/10/18) ♡
- Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents. (2021/10/18) ♡
- Respiratory Muscle Function Tests and Diaphragm Ultrasound Predict Nocturnal Hypoventilation in Slowly Progressive Myopathies. (2021/10/14) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Paradoxical cardiac conduction during exercise stress testing in myotonic dystrophy type 1: a case report. (2021/10/12) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Muscular Dystrophy and Heart Failure: An Unusual Association. (2021/10/08) ♡
- Loss of muscleblind splicing factor shortens Caenorhabditis elegans lifespan by reducing the activity of p38 MAPK/PMK-1 and transcription factors ATF-7 and Nrf/SKN-1. (2021/10/02) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report of Congenital Kyphoscoliosis with Myotonic Dystrophy Type 1: Perioperative and Anesthetic Considerations. (2021/10/01) ♡
- 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. Newborn screening of neuromuscular diseases. (2021/10/01) ♡
- 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. Intellectual disability in paediatric patients with genetic muscle diseases. (2021/10/01) ♡
- Long-term Safety and Efficacy of Mexiletine in Myotonic Dystrophy Types 1 and 2. (2021/10/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Defined D-hexapeptides bind CUG repeats and rescue phenotypes of myotonic dystrophy myotubes in a Drosophila model of the disease. (2021/09/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Myotonic Dystrophy Type I patient with Predominant Proximal Muscle Weakness without Action Myotonia- A Case Report and Review of Pathology. (2021/09/30) ♡
- [Questionnaire surveys of clinical genetic specialists on the medical genetics for patients with myotonic dystrophy type 1]. (2021/09/28) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Screening of coronary microvascular dysfunction in cardiomyopathy of myotonic muscular dystrophy type 1. (2021/09/23) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A Candidate RNAi Screen Reveals Diverse RNA-Binding Protein Phenotypes in Drosophila Flight Muscle. (2021/09/22) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Translational control of polyamine metabolism by CNBP is required for Drosophila locomotor function. (2021/09/14) ♡
- High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1). (2021/09/14) ♡
- miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1. (2021/09/14) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. [Steinert's disease and refusal to treatment]. (2021/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mediastinal and pleural lipomatosis as a manifestation of myotonic dystrophy type 1. (2021/09/01) ♡
- 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. Treatment of central disorders of hypersomnolence: an American Academy of Sleep Medicine clinical practice guideline. (2021/09/01) ♡
- 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. Treatment of central disorders of hypersomnolence: an American Academy of Sleep Medicine systematic review, meta-analysis, and GRADE assessment. (2021/09/01) ♡
- Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles. (2021/08/31) ♡
- Tideglusib, a Non-ATP Competitive Inhibitor of GSK-3β as a Drug Candidate for the Treatment of Amyotrophic Lateral Sclerosis. (2021/08/20) ♡
- Inhibition of Postn Rescues Myogenesis Defects in Myotonic Dystrophy Type 1 Myoblast Model. (2021/08/19) ♡
- Musashi-2 contributes to myotonic dystrophy muscle dysfunction by promoting excessive autophagy through miR-7 biogenesis repression. (2021/08/19) ♡
- Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1. (2021/08/10) ♡
- Longitudinal Changes of Tongue Thickness and Tongue Pressure in Neuromuscular Disorders. (2021/08/05) ♡
- 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. Cerebral involvement and related aspects in myotonic dystrophy type 2. (2021/08/01) ♡
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