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Muscles and connective tissue
Myotonic dystrophy
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Publications and studies (1161)
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Anesthetic Management for Multiple Family Members with Myotonic Dystrophy for Interventional Cardiac Procedures-A Case Series. (2018/01/08) ♡
- MBNL expression in autoregulatory feedback loops. (2018/01/02) ♡
- MRCKα is activated by caspase cleavage to assemble an apical actin ring for epithelial cell extrusion. (2018/01/02) ♡
- Seeking a better landscape for therapy development in neuromuscular disorders. (2018/01/01) ♡
- Lower limb muscle magnetic resonance imaging in myotonic dystrophy type 1 correlates with the six-minute walk test and CTG repeats. (2018/01/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lymphoblastoids cell lines - Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)(200) expansion in the DMPK gene: CHUQi001-A. (2018/01/01) ♡
- Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy. (2018/01/01) ♡
- 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. An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases. (2018/01/01) ♡
- Exon Skipping by Ultrasound-Enhanced Delivery of Morpholino with Bubble Liposomes for Myotonic Dystrophy Model Mice. (2018/01/01) ♡
- Myotonic Dystrophy Type 2 - Data from the Serbian Registry. (2018/01/01) ♡
- Report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop Paris, France, June 8, 2015. (2018/01/01) ♡
- How to Interpret Abnormal Findings of Spirometry and Manometry in Myotonic Dystrophies? (2018/01/01) ♡
- A potential role of extended simple sequence repeats in competing endogenous RNA crosstalk. (2018/01/01) ♡
- 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. Disturbed Ca(2+) Homeostasis in Muscle-Wasting Disorders. (2018/01/01) ♡
- 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. Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies. (2018/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life (2018-07-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy (2018-07-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 (2018-06-19) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Arrhythmias in Myotonic Muscular Dystrophy (2018-02-14) ♡
- Minimizing carry-over PCR contamination in expanded CAG/CTG repeat instability applications. (2017/12/21) ♡
- CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients. (2017/12/15) ♡
- Hybrid splicing minigene and antisense oligonucleotides as efficient tools to determine functional protein/RNA interactions. (2017/12/14) ♡
- 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. Invasive versus non-invasive ventilation for acute respiratory failure in neuromuscular disease and chest wall disorders. (2017/12/04) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Kubrick's The Shining and the erased myopathic face. (2017/12/01) ♡
- Template-operated MUP analysis is not accurate in the diagnosis of myopathic or neuropathic changes in the diaphragm. (2017/12/01) ♡
- 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. Palliative care in neuromuscular diseases. (2017/12/01) ♡
- Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions. (2017/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Steakhouse Syndrome in Myotonic Dystrophy. (2017/12/01) ♡
- Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution. (2017/12/01) ♡
- Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. (2017/12/01) ♡
- Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair. (2017/12/01) ♡
- Cardiac involvement in myotonic dystrophy: The role of troponins and N-terminal pro B-type natriuretic peptide. (2017/12/01) ♡
- Understanding people with Steinert's disease to provide them with better care. (2017/12/01) ♡
- Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results. (2017/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report. (2017/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a patient with Myotonic Dystrophy type 1 and atrial fibrillation. (2017/12/01) ♡
- Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1. (2017/11/07) ♡
- Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9. (2017/11/02) ♡
- Brain gray matter structural network in myotonic dystrophy type 1. (2017/11/02) ♡
- 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. Myotonic dystrophy: candidate small molecule therapeutics. (2017/11/01) ♡
- The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure. (2017/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Which is the true epidemiology of left ventricular dysfunction in patients with myotonic dystrophy type 1? (2017/11/01) ♡
- 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. Genome engineering: a new approach to gene therapy for neuromuscular disorders. (2017/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Genetic testing of individuals with pre-senile cataract identifies patients with myotonic dystrophy type 2. (2017/11/01) ♡
- Reduced renal function in patients with Myotonic Dystrophy type 1 and the association to CTG expansion and other potential risk factors for chronic kidney disease. (2017/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Successful treatment of a patient with statin-induced myopathy and myotonic dystrophy type II with proprotein convertase subtilisin/kexin type 9 inhibitor, alirocumab (Praluent). (2017/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Fuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients. (2017/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. [Age-related cognitive decline in adults with DM1: a 9-year longitudinal study]. (2017/11/01) ♡
- Cardiac autonomic control during sleep in patients with myotonic dystrophy type 1: the effects of comorbid obstructive sleep apnea. (2017/11/01) ♡
- The relative frequency of common neuromuscular diagnoses in a reference center. (2017/11/01) ♡
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