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Myotonic dystrophy
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Publications and studies (1161)
- Dynamic docking of small molecules targeting RNA CUG repeats causing myotonic dystrophy type 1. (2023/01/03) ♡
- Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing. (2023/01/01) ♡
- Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow-up study. (2023/01/01) ♡
- Repurposing pentamidine using hyaluronic acid-based nanocarriers for skeletal muscle treatment in myotonic dystrophy. (2023/01/01) ♡
- Prevalence of urinary incontinence and other pelvic floor disorders in women with myotonic dystrophy type 1. (2023/01/01) ♡
- Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 1. (2023/01/01) ♡
- Open Bite Malocclusion and Orofacial Dysfunction in Patients with Myotonic Dystrophy Type 1 and Duchenne Muscular Dystrophy. (2023/01/01) ♡
- DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results. (2023/01/01) ♡
- Longitudinal Changes in Neuropsychological Functioning in Japanese Patients with Myotonic Dystrophy Type 1: A Five Year Follow-Up Study. (2023/01/01) ♡
- Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1. (2023/01/01) ♡
- [Sleep disorders and fatigue in patients with different forms of myotonic dystrophy type 1]. (2023/01/01) ♡
- 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. Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 1. (2023/01/01) ♡
- Differences in diffusion tensor imaging parameters of brain white matter tracts between patients with myotonic dystrophy type 1 and type 2 - a retrospective single-centre study. (2023/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Primary mediastinal large B-cell lymphoma complicated with myotonic dystrophy]. (2023/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The United Kingdom National Registry for Myotonic Dystrophy (2023-12-04) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myotonic Dystrophy Type 1 and Resistance Exercise (2023-11-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2 (2023-11-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Home-based Training and Supplementation in DM1 Patients (2023-10-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Observational Study of Digital Biomarkers of Myotonia and Gait in Adults and Children With Myotonic Dystrophy (2023-10-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Diastolic Function in Myotonic Dystrophy Type 1 (2023-09-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effects of a 12-week Strength Training Program in Women With Myotonic Dystrophy Type 1 (2023-02-10) ♡
- 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. Proximal myopathy: causes and associated conditions. (2022/12/31) ♡
- L-Carnitine Functionalization to Increase Skeletal Muscle Tropism of PLGA Nanoparticles. (2022/12/24) ♡
- Neuropathology of classic myotonic dystrophy type 1 is characterized by both early initiation of primary age-related tauopathy of the hippocampus and unique 3-repeat tauopathy of the brainstem. (2022/12/19) ♡
- Cognate RNA-Binding Modes by the Alternative-Splicing Regulator MBNL1 Inferred from Molecular Dynamics. (2022/12/18) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Child Neurology: Maternal Transmission of Congenital Myotonic Dystrophy Type 2: Case Report. (2022/12/12) ♡
- Calcitriol increases MBNL1 expression and alleviates myotonic dystrophy phenotypes in HSA(LR) mouse models. (2022/12/12) ♡
- Study of an RNA-Focused DNA-Encoded Library Informs Design of a Degrader of a r(CUG) Repeat Expansion. (2022/12/07) ♡
- A Greek National Cross-Sectional Study on Myotonic Dystrophies. (2022/12/07) ♡
- [Risk factors for ischaemic stroke in myotonic dystrophy type 1]. (2022/12/04) ♡
- 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. Quality of instruments assessing activity and participation of people with muscular dystrophy: A systematic review of participant-reported outcome measures. (2022/12/01) ♡
- European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. (2022/12/01) ♡
- Genetic studies in isolated bilateral clubfoot detected by prenatal ultrasound. (2022/12/01) ♡
- Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1. (2022/12/01) ♡
- Ventricular arrhythmias in Kearns-Sayre syndrome: A cohort study using the National Inpatient Sample database 2016-2019. (2022/12/01) ♡
- Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort. (2022/12/01) ♡
- Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France. (2022/12/01) ♡
- Challenging Neuromuscular Disease Cases. (2022/12/01) ♡
- 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. Complications After Dental Sedation: A Myotonic Mystery Case Report. (2022/12/01) ♡
- 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. (2022/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Rare Co-Existence of Multiple Cerebral Cavernous Malformations and Pleomorphic Adenoma of the Parotid Gland in Myotonic Dystrophy. (2022/12/01) ♡
- 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. Cholesterol Management in Neurology: Time for Revised Strategies? (2022/11/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Dystrophia myotonica Type 1 associated with glioblastoma: a case report]. (2022/11/26) ♡
- 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 Insights into Gastrointestinal Dysfunction in Myotonic Dystrophy Types 1 & 2. (2022/11/26) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Commentary: Autoimmune diseases in patients with myotonic dystrophy type 2. (2022/11/17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. (2022/11/10) ♡
- Sustainable recovery of MBNL activity in autoregulatory feedback loop in myotonic dystrophy. (2022/11/03) ♡
- 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 Novel Nerve Block Technique for a Patient Undergoing Cardiac Device Implantation. (2022/11/03) ♡
- Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing. (2022/11/01) ♡
- Inverted Tako-Tsubo cardiomyopathy as the first cardiac manifestation in patient with Steinert's disease. (2022/11/01) ♡
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