Myotonic dystrophy
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Publications and studies (1161)
- Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials. (2022/03/01) ♡
- 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. An overview of heart rhythm disorders and management in myotonic dystrophy type 1. (2022/03/01) ♡
- MRCK-Alpha and Its Effector Myosin II Regulatory Light Chain Bind ABCB4 and Regulate Its Membrane Expression. (2022/02/10) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene. (2022/02/01) ♡
- Retracted publicationiThis research has been withdrawn by science itself, for example due to a flaw in the method or unreliable data. Do not use it as support and do not discuss it as evidence. Utility of phrenic nerve conduction studies for identification of patients with neuromuscular diseases requiring invasive mechanical ventilation. (2022/02/01) ♡
- 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. Speech and language abnormalities in myotonic dystrophy: An overview. (2022/02/01) ♡
- 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. Outcome measures frequently used to assess muscle strength in patients with myotonic dystrophy type 1: a systematic review. (2022/02/01) ♡
- Blood-Based Markers of Neuronal Injury in Adult-Onset Myotonic Dystrophy Type 1. (2022/01/20) ♡
- Different K(+)-release in distal myogenic and neurogenic muscular weakness during non-ischemic exercise. (2022/01/15) ♡
- Characteristics of myotonic dystrophy patients in the national registry of Japan. (2022/01/15) ♡
- 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 Medley of Malnutrition and Myotonic Dystrophy: Twice Unlucky. (2022/01/12) ♡
- Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes. (2022/01/05) ♡
- Diagnostic and Prognostic Value of Cardiovascular Magnetic Resonance in Neuromuscular Cardiomyopathies. (2022/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia. (2022/01/01) ♡
- 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. Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview. (2022/01/01) ♡
- 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. Differential fates of introns in gene expression due to global alternative splicing. (2022/01/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of induced pluripotent stem cell line (ZZUi015-A) from a DM1 patient with cataract. (2022/01/01) ♡
- Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights. (2022/01/01) ♡
- Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 1. (2022/01/01) ♡
- Alternative Splicing in Human Biology and Disease. (2022/01/01) ♡
- 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. Predicting the CTG Repeat Size from a Single Spirometry Test Performed at Any Time during the Disease Course of Myotonic Dystrophy Type 1. (2022/01/01) ♡
- Cardiac Involvement and Arrhythmias Associated with Myotonic Dystrophy. (2022/01/01) ♡
- Multiple Case Study of Changes in Participation of Adults with Myotonic Dystrophy Type 1: Importance of Redesigning Accomplishment and Resilience. (2022/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Low-frequency Repetitive Nerve Stimulation in Myotonic Dystrophy Type 1 (2022-12-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1 (2022-12-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Bullying in Youth With Muscular Dystrophy and Congenital Myopathies (2022-11-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders (2022-08-24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Breathlessness Assessment in Adult Patients With Myotonic Dystrophy Type 1 (2022-06-15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. DM-IMT - Controlled, Randomized, Three-arm Intervention Study on the Safety and Efficacy of Regular Respiratory Muscle Training in Patients With Myotonic Dystrophy Type 1 (2022-05-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of MYODM on Quality of Life, Fatigue and Hypersomnia in Patients With Myotonic Dystrophy Type 1 (2022-04-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myotonic Dystrophy Type 1 Aerobic Exercise Study (2022-03-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1 (2022-01-06) ♡
- 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. Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1. (2021/12/29) ♡
- Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent. (2021/12/27) ♡
- Care for capabilities: Implementing the capability approach in rehabilitation of patients with neuromuscular diseases. Study protocol of the controlled before-after ReCap-NMD study. (2021/12/21) ♡
- Aurintricarboxylic Acid Decreases RNA Toxicity in a C. elegans Model of Repeat Expansions. (2021/12/20) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis. (2021/12/17) ♡
- Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies. (2021/12/17) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. The Adaptor Protein Lurap1 Is Required for Cell Cohesion during Epiboly Movement in Zebrafish. (2021/12/16) ♡
- Three-dimensional assessment of pharyngeal airway in individuals with myotonic dystrophy type 1. (2021/12/13) ♡
- Altered Local Brain Amplitude of Fluctuations in Patients With Myotonic Dystrophy Type 1. (2021/12/10) ♡
- 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. Disrupting the Molecular Pathway in Myotonic Dystrophy. (2021/12/08) ♡
- 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. Cobb's Tufts: A Systematic Review. (2021/12/04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myotonic dystrophy type 1 as a major risk factor for severe COVID-19? (2021/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Pattern macular dystrophy associated with Steinert myotonic dystrophy: A case report]. (2021/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia. (2021/12/01) ♡
- 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. Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy. (2021/12/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Subjective-objective sleepiness discrepancy in adult-onset myotonic dystrophy type 1. (2021/12/01) ♡
- The actigraphic documentation of circadian sleep-wake rhythm dysregulation in myotonic dystrophy type 1. (2021/12/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Myotonic Dystrophy and Conduction Disease. (2021/12/01) ♡
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