Myotonic dystrophy
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Publications and studies (1161)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. NIPD on cffDNA for Triplet Repeat Diseases (2021-01-07) ♡
- DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan. (2020/12/21) ♡
- A CRISPR-Cas13a Based Strategy That Tracks and Degrades Toxic RNA in Myotonic Dystrophy Type 1. (2020/12/10) ♡
- Design of novel small molecule base-pair recognizers of toxic CUG RNA transcripts characteristics of DM1. (2020/12/06) ♡
- 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. The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I. (2020/12/04) ♡
- 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. Application of CRISPR-Cas9-Mediated Genome Editing for the Treatment of Myotonic Dystrophy Type 1. (2020/12/02) ♡
- Updated size index valid for both neurogenic and myogenic changes. (2020/12/01) ♡
- 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. Epigenetics of neuromuscular disorders. (2020/12/01) ♡
- DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1. (2020/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Image of the month: Severe hydrocephalus in a child with congenital myotonic dystrophy X]. (2020/12/01) ♡
- [Cooperative nurse and management of patients with type 1 myotonic dystrophy (Steinert's disease)]. (2020/12/01) ♡
- 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 type 2: the 2020 update. (2020/12/01) ♡
- 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. Late-onset myopathies: clinical features and diagnosis. (2020/12/01) ♡
- 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. Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries. (2020/11/27) ♡
- Antisense oligonucleotide and adjuvant exercise therapy reverse fatigue in old mice with myotonic dystrophy. (2020/11/26) ♡
- Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration. (2020/11/24) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report on a Patient with Steinert Disease Complicated by COVID-19. (2020/11/20) ♡
- Macrocyclization of a Ligand Targeting a Toxic RNA Dramatically Improves Potency. (2020/11/16) ♡
- 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. Effect of Muscular Exercise on Patients With Muscular Dystrophy: A Systematic Review and Meta-Analysis of the Literature. (2020/11/12) ♡
- Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1. (2020/11/07) ♡
- Replication stress at microsatellites causes DNA double-strand breaks and break-induced replication. (2020/11/06) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Eye involvement in patients with myotonic dystrophy. (2020/11/01) ♡
- The Alternative Splicing Factor, MBNL1, Inhibits Glioblastoma Tumor Initiation and Progression by Reducing Hypoxia-Induced Stemness. (2020/11/01) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. A Phase 2 Study of AMO-02 (Tideglusib) in Congenital and Childhood-Onset Myotonic Dystrophy Type 1 (DM1). (2020/11/01) ♡
- Relationship between tongue pressure and functional oral intake scale diet type in patients with neurological and neuromuscular disorders. (2020/11/01) ♡
- Encoding of facial expressions in individuals with adult-onset myotonic dystrophy type 1. (2020/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Myotonic dystrophy and recurrent pleomorphic adenomas: Case report and association hypothesis. (2020/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Opioid-free general anesthesia and induced recovery from anesthesia in a patient with myotonic dystrophy type-1: a case report]. (2020/11/01) ♡
- Christmas tree cataract in Steinert disease. (2020/10/23) ♡
- A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project. (2020/10/23) ♡
- miR-322/-503 rescues myoblast defects in myotonic dystrophy type 1 cell model by targeting CUG repeats. (2020/10/22) ♡
- MutSβ Stimulates Holliday Junction Resolution by the SMX Complex. (2020/10/20) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dexmedetomidine infusion for sedation in a patient with myotonic dystrophy. (2020/10/16) ♡
- A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report. (2020/10/08) ♡
- 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. Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1. (2020/10/07) ♡
- 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. Prevalence of Left Ventricular Systolic Dysfunction in Myotonic Dystrophy Type 1: A Systematic Review. (2020/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Diagnostic Criteria of Left Ventricular Dysfunction in Patients With Myotonic Dystrophy Type 1. (2020/10/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Quantitative Muscle MRI Depicts Increased Muscle Mass after a Behavioral Change in Myotonic Dystrophy Type 1. (2020/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Expanding genes, repeating themes and therapeutic schemes: The neurobiology of tandem repeat disorders. (2020/10/01) ♡
- Neurodegeneration trajectory in pediatric and adult/late DM1: A follow-up MRI study across a decade. (2020/10/01) ♡
- How to capture activities of daily living in myotonic dystrophy type 2? (2020/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Assessing Prevalence and Characteristics of Rare Disease Cardiomyopathies: A Modest Proposal. (2020/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. [Myotonic dystrophy and primary care]. (2020/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial: Myotonic Dystrophies: Developments in Research From Bench to Bedside. (2020/09/30) ♡
- Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity. (2020/09/29) ♡
- Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice. (2020/09/29) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Non-alcoholic fatty liver disease later diagnosed as myotonic dystrophy. (2020/09/27) ♡
- Myotonic dystrophy: a cause of acute breathlessness not to be missed. (2020/09/24) ♡
- Expanded DNA and RNA Trinucleotide Repeats in Myotonic Dystrophy Type 1 Select Their Own Multitarget, Sequence-Selective Inhibitors. (2020/09/22) ♡
- 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 Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I. (2020/09/22) ♡
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