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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)

• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lymphoblastoid cell lines derived from iPSCs of a myotonic dystrophy type 1 patient carrying 700 CTG repeats (CBRCULi007-A) and a control (CBRCULi006-A). (2023/09/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Restoring myogenesis in myotonic dystrophy. (2023/09/01) ♡
• Role of respiratory characteristics in treatment adherence with noninvasive home mechanical ventilation in myotonic dystrophy type 1, a retrospective study. (2023/09/01) ♡
• Double Trouble Myotonic Dystrophy Type-1 and Parkinson Syndrome Associated with Variants in SYNJI, VPS13C, and DNAJC6. (2023/09/01) ♡
• Myotonic Dystrophy-1 and Parkinson's Disease: Clarify the Role of CTG-repeat Size and Variants in VPS13C, SYNJ1, and DNAJC6. (2023/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Undiagnosed myotonic dystrophy: A case report and literature review. (2023/08/29) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Huge Leiomyomas Arising from Bilateral Uterine Remnants in a Mayer-Rokitansky-Küster-Hauser Syndrome Patient with Coexisting Myotonic Dystrophy Type 1: A Case Report and Literature Review. (2023/08/28) ♡
• Motor unit number estimation by MScanFit in myotonic dystrophies. (2023/08/15) ♡
• Genetics, Trinucleotide. (2023/08/14) ♡
• Autistic traits in myotonic dystrophy type 1 due to MBNL inhibition and RNA mis-splicing. (2023/08/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Male infertility with muscle weakness: a point of view. (2023/08/14) ♡
• 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. Mitochondrial Dysfunction in Repeat Expansion Diseases. (2023/08/10) ♡
• Longitudinal changes in white matter as measured with diffusion tensor imaging in adult-onset myotonic dystrophy type 1. (2023/08/01) ♡
• Visuoconstructional impairment in DM1: exploring underlying cognitive processes through the Rey complex figure. (2023/08/01) ♡
• Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function. (2023/07/26) ♡
• Characterization of Anticancer Effects of the Analogs of DJ4, a Novel Selective Inhibitor of ROCK and MRCK Kinases. (2023/07/26) ♡
• Individual transcriptomic response to strength training for patients with myotonic dystrophy type 1. (2023/07/24) ♡
• Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1. (2023/07/19) ♡
• History of international connections of myology in Europe. (2023/07/10) ♡
• Massive contractions of Myotonic Dystrophy Type 2-associated CCTG tetranucleotide repeats occur via double strand break repair with distinct requirements for helicases. (2023/07/07) ♡
• Prediction of respiratory impairment in myotonic dystrophies using the 'Respiratory involvement symptom checklist' (Respicheck). (2023/07/01) ♡
• Learning Spectral Fractional Anisotropy and Mean Diffusivity Features as Neuroimaging Biomarkers for Tracking White Matter Integrity Changes in Myotonic Dystrophy Type 1 Patients using Deep Convolutional Neural Networks. (2023/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Managing thyroid cancer in Steinert's disease: the role of radiofrequency ablation. (2023/06/30) ♡
• 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 role of sleep in neuromuscular disorders. (2023/06/29) ♡
• 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 case of early onset diabetes with myotonic dystrophy type 1. (2023/06/28) ♡
• Mexiletine. (2023/06/26) ♡
• Myotonic Dystrophy. (2023/06/26) ♡
• Therapeutic Targeting of the GSK3β-CUGBP1 Pathway in Myotonic Dystrophy. (2023/06/26) ♡
• Transcriptome-Wide Studies of RNA-Targeted Small Molecules Provide a Simple and Selective r(CUG)(exp) Degrader in Myotonic Dystrophy. (2023/06/26) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell lines. (2023/06/15) ♡
• In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array. (2023/06/14) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Natural Compound Boldine Lessens Myotonic Dystrophy Type 1 Phenotypes in DM1 Drosophila Models, Patient-Derived Cell Lines, and HSA(LR) Mice. (2023/06/06) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Adult orbital xanthogranulomatous disease and myotonic dystrophy type 2: coexistence or association? (2023/06/01) ♡
• Combinatorial chloride and calcium channelopathy in myotonic dystrophy. (2023/06/01) ♡
• Epigastric pain and partial ptosis. (2023/05/01) ♡
• 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. Primary Sjögren's syndrome with type II respiratory failure caused by myotonic dystrophy type 1: A case report and literature review. (2023/05/01) ♡
• Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. (2023/04/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Ocular findings in a Spanish cohort of myotonic dystrophy type 1. (2023/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. DILEMMAS ABOUT THE SELECTION OF ANESTHESIA FOR ELECTIVE CESAREAN SECTION IN PREGNANT WOMEN WITH MYOTONIC DYSTROPHY TYPE 2 AND SUSPECTED von WILLEBRAND DISEASE: A CASE REPORT. (2023/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon. (2023/03/06) ♡
• 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. Phenotype and management of neurologic intronic repeat disorders (NIRDs). (2023/03/01) ♡
• Clinical score for early diagnosis of myotonic dystrophy type 2. (2023/03/01) ♡
• Patient reported pregnancy and birth outcomes in genetic neuromuscular diseases. (2023/03/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model. (2023/02/14) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Concurrent antibody-mediated myasthenia gravis and myotonic dystrophy type 1. (2023/02/01) ♡
• Safety and immunogenicity of mRNA COVID-19 vaccine in inpatients with muscular dystrophy. (2023/02/01) ♡
• Myotonic dystrophy type 1: A comparison between the adult- and late-onset subtype. (2023/02/01) ♡
• Dyspnea assessment in myotonic dystrophy type 1. (2023/02/01) ♡
• Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European survey. (2023/02/01) ♡
• Nuclear envelope transmembrane proteins involved in genome organization are misregulated in myotonic dystrophy type 1 muscle. (2023/01/09) ♡

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