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Myotonic dystrophy
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Publications and studies (1161)
- Resolving the chromatin impact of mosaic variants with targeted Fiber-seq. (2024/12/23) ♡
- CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders. (2024/12/20) ♡
- Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics. (2024/12/18) ♡
- The AMPK allosteric activator MK-8722 improves the histology and spliceopathy in myotonic dystrophy type 1 (DM1) skeletal muscle. (2024/12/15) ♡
- A new method to evaluate staircase phenomenon in skeletal muscle using piezoelectric sensor. (2024/12/15) ♡
- Trinucleotide Repeat Disorders. (2024/12/11) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Erratum: Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity. (2024/12/09) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Managing Myotonic Dystrophy Type 1 Complicated by Metabolic Syndrome. (2024/12/04) ♡
- Changes in body composition revealed by bioelectrical impedance analysis reflect strength and motor performance in myotonic dystrophy type 2. (2024/12/04) ♡
- CRISPR/Cas9-induced double-strand breaks in the huntingtin locus lead to CAG repeat contraction through DNA end resection and homology-mediated repair. (2024/12/03) ♡
- 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. Intellectual Profile in Myotonic Dystrophy Type 1 and Its Association With Its Onset: A Systematic Review and Meta-Analysis. (2024/12/01) ♡
- 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. A meta-analysis of the prevalence of neuropsychiatric disorders and their association with disease onset in myotonic dystrophy. (2024/12/01) ♡
- The heterodimer of 2-amino-1,8-naphthyridine and 3-aminoisoquinoline binds to the CTG/CTG triad via hydrogen bonding. (2024/12/01) ♡
- Video head impulse gain is impaired in myotonic dystrophy types 1 and 2. (2024/12/01) ♡
- RNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function. (2024/12/01) ♡
- 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. Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature. (2024/12/01) ♡
- A Novel Class of FKBP12 Ligands Rescues Premature Aging Phenotypes Associated with Myotonic Dystrophy Type 1. (2024/11/22) ♡
- Cardiac risk and myocardial fibrosis assessment with cardiac magnetic resonance in patients with myotonic dystrophy. (2024/11/21) ♡
- Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR. (2024/11/20) ♡
- 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. Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy. (2024/11/18) ♡
- 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. Myotonic Dystrophy Type 1. (2024/11/14) ♡
- Beyond the heart: multisystem complications fuelling cardiac dysfunction in myotonic dystrophy type 1. (2024/11/13) ♡
- CUG repeat RNA-dependent proteasomal degradation of MBNL1 in a cellular model of myotonic dystrophy type 1. (2024/11/12) ♡
- Influence of metal ions on the isothermal self-assembly of DNA nanostructures. (2024/11/06) ♡
- Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1. (2024/11/05) ♡
- 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. Decoding Nucleotide Repeat Expansion Diseases: Novel Insights from Drosophila melanogaster Studies. (2024/11/02) ♡
- Tissue Doppler ultrasound of arm muscles to assess myotonia in myotonic dystrophies: An exploratory study. (2024/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Life expectancy and causes of death in patients with Myotonic Dystrophy Type 2. (2024/11/01) ♡
- Hypogammaglobulinemia and infection risk in myotonic dystrophy type 1. (2024/11/01) ♡
- Calcium handling abnormalities increase arrhythmia susceptibility in DMSXL myotonic dystrophy type 1 mice. (2024/11/01) ♡
- Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course. (2024/11/01) ♡
- The COVID-19 Pandemic and Its Influence on Patients With Myotonic Dystrophy Type 1: Lessons Learned. (2024/11/01) ♡
- 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. [Metabolic dysfunctions in type I myotonic dystrophy: A potential therapeutic target]. (2024/11/01) ♡
- International collaboration to improve knowledge on myotonic dystrophy type 2. (2024/11/01) ♡
- 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. Hereditary Neuromuscular Disorders in Reproductive Medicine. (2024/10/30) ♡
- Spiny mice are primed but fail to regenerate volumetric skeletal muscle loss injuries. (2024/10/29) ♡
- MBNL splicing factors regulate the microtranscriptome of skeletal muscles. (2024/10/28) ♡
- Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy: A Register-Based Cohort Study. (2024/10/22) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Altered drug metabolism and increased susceptibility to fatty liver disease in a mouse model of myotonic dystrophy. (2024/10/21) ♡
- 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 Gut Microbiota Involvement in the Panorama of Muscular Dystrophy Pathogenesis. (2024/10/21) ♡
- Quantum Chemical Characterization of Rotamerism in Thio-Michael Additions for Targeted Covalent Inhibitors. (2024/10/14) ♡
- AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action. (2024/10/11) ♡
- [Application of triplet-primer PCR technology for the genetic testing and prenatal diagnosis of patients with Myotonic dystrophy type 1]. (2024/10/10) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Rescue of Scn5a mis-splicing does not improve the structural and functional heart defects of a DM1 heart mouse model. (2024/10/07) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Longitudinal Course of Myotonic Dystrophy Type 1 With Gait Training Using a Hybrid Assistive Limb: A Case Report. (2024/10/07) ♡
- Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing. (2024/10/04) ♡
- 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. Late-onset myopathies. (2024/10/01) ♡
- Comprehensive four-year disease progression assessment of myotonic dystrophy type 1. (2024/10/01) ♡
- Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland. (2024/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Beyond premature apnea pauses: congenital myotonic dystrophy type 1]. (2024/10/01) ♡
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