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Myotonic dystrophy

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (37)Meta-analysis (7)Treatment guideline (7)Systematic review (11)Randomized trial (7)Phase 3 study (5)Clinical trial (148)Review article (142)Early study (phase 1 or 2) (12)Case report (114)Laboratory or animal study (33)Commentary or editorial (59)Retracted publication (1) Studies currently recruiting participants only (33)

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Publications and studies (1161)

• Stepping Activity in Children With Congenital Myotonic Dystrophy. (2018/10/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Commentary on "Stepping Activity in Children With Congenital Myotonic Dystrophy". (2018/10/01) ♡
• 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. Myotonic Dystrophies: Targeting Therapies for Multisystem Disease. (2018/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Considerations for chest clearance and cough augmentation in severe bulbar dysfunction: a case study. (2018/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Teaching NeuroImages: Myotonic dystrophy type 1. (2018/09/25) ♡
• Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. (2018/09/25) ♡
• Social cognition in myotonic dystrophy type 1: Specific or secondary impairment? (2018/09/24) ♡
• Furamidine Rescues Myotonic Dystrophy Type I Associated Mis-Splicing through Multiple Mechanisms. (2018/09/21) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial: Beyond Borders: Myotonic Dystrophies-A European Perception. (2018/09/20) ♡
• Neuropsychological and Psychological Functioning Aspects in Myotonic Dystrophy Type 1 Patients in Italy. (2018/09/19) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy. (2018/09/11) ♡
• Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. (2018/09/05) ♡
• Small molecule alteration of RNA sequence in cells and animals. (2018/09/01) ♡
• 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. [Dystrophic and non-dystrophic myotonias]. (2018/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Oral Management of Steinert's Disease and Role of Anxiolysis. (2018/09/01) ♡
• A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism. (2018/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Myotonic dystrophy type 1 and pulmonary embolism: successful thrombus resolution with dabigatran etexilate therapy. (2018/09/01) ♡
• 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. Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations. (2018/08/31) ♡
• 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. Current Progress in CNS Imaging of Myotonic Dystrophy. (2018/08/21) ♡
• Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2. (2018/07/27) ♡
• Myotonic Dystrophy-A Progeroid Disease? (2018/07/25) ♡
• 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. ACE inhibition to slow progression of myocardial fibrosis in muscular dystrophies. (2018/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. MRI hydrographic 3D sequences: myotonic dystrophy type 1 meets CADASIL. (2018/06/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cognitive impairment and quality of life in patients with myotonic dystrophy type 1. (2018/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Usefulness of the external loop recorder in a patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations: evaluation of the follow-up from diagnosis to 6 month-post-cardiac interventional treatment. (2018/05/01) ♡
• Sarcolemmal excitability in the myotonic dystrophies. (2018/04/01) ♡
• Management of pneumatosis intestinalis in children over the age of 6 months: a conservative approach. (2018/04/01) ♡
• French translation and cross-cultural adaptation of The Myotonic Dystrophy Health Index. (2018/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene. (2018/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-Obstruction. (2018/04/01) ♡
• "Dystrophia Myotonica" and the Legacy of Hans Gustav Wilhelm Steinert. (2018/04/01) ♡
• Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink. (2018/03/15) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Abnormally invasive placentation in a woman with congenital myotonic dystrophy. (2018/03/01) ♡
• Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients. (2018/03/01) ♡
• Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients. (2018/03/01) ♡
• Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy. (2018/03/01) ♡
• Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey. (2018/03/01) ♡
• 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. Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity? (2018/03/01) ♡
• Genotype and other determinants of respiratory function in myotonic dystrophy type 1. (2018/03/01) ♡
• Assessing the Financial Value of Patient Engagement: A Quantitative Approach from CTTI's Patient Groups and Clinical Trials Project. (2018/03/01) ♡
• 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. What the internist should know about hereditary muscle channelopathies. (2018/02/01) ♡
• Imaging of the thymus in myotonic dystrophy type 1. (2018/02/01) ♡
• Mitochondrial dysfunction in myotonic dystrophy type 1. (2018/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An unusual case of placenta percreta in a patient with myotonic dystrophy. (2018/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Non-invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective. (2018/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Non invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective. (2018/02/01) ♡
• 227(th) ENMC International Workshop:: Finalizing a plan to guarantee quality in translational research for neuromuscular diseases Heemskerk, Netherlands, 10-11 February 2017. (2018/02/01) ♡
• The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities. (2018/02/01) ♡
• 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. Neuromuscular diseases: Diagnosis and management. (2018/02/01) ♡
• Dual Action of Mexiletine and Its Pyrroline Derivatives as Skeletal Muscle Sodium Channel Blockers and Anti-oxidant Compounds: Toward Novel Therapeutic Potential. (2018/01/12) ♡

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