• A case of myotonic dystrophy type 1 with severe dilated cardiomyopathy: an unusual presenting manifestation of the most common muscular dystrophy in adults
• A couple of the first cousins born with hypotonia and maternal polyhydramnios
• A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned
• A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals
• A Systematic Review on the Application of Virtual Reality for Muscular Dystrophy Rehabilitation: Motor Learning Benefits
• AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges
• Analysis of Corneal Phenotypes in Japanese Patients With Myotonic Dystrophy Type 1
• Anesthesia for a Patient with Undiagnosed Myotonic Dystrophy
• Bilateral choroidal melanoma at presentation in a patient with myotonic dystrophy: a case report and review of the literature
• Bilateral choroidal melanoma at presentation in a patient with myotonic dystrophy: case report and review of the literature
• Bruno 1/CELF regulates splicing and cytoskeleton dynamics to ensure correct sarcomere assembly Drosophila flight muscles
• Bruno 1/CELF regulates splicing and cytoskeleton dynamics to ensure correct sarcomere assembly in Drosophila flight muscles
• CaMKIIbeta deregulation contributes to neuromuscular junction destabilization in Myotonic Dystrophy type I
• Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study
• Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release
• Clarification on "Myotonic Dystrophy Type 1 - An Atypical Presentation"
• Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
• Clinicopathological Profile of Muscle Diseases Presenting the Adult Population in Northern India: Preliminary Analysis in a Limited Resource Setting
• CNS involvement in myotonic dystrophy type 1: does sex play a role?
• Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy
• Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report
• Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review
• Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network
• Correction to: A case of myotonic dystrophy type 1 with severe dilated cardiomyopathy: an unusual presenting manifestation of the most common muscular dystrophy in adults
• Critical Hemorrhage Caused by a Size-Mismatched Extracorporeal Membrane Oxygenation Cannula in a Patient with Myotonic Dystrophy Type 1: A Case Report and Literature Review
• Decreased and Improved Movement Abilities in a Case of Myotonic Dystrophy Type 1: Examining Longitudinal Characteristics Based on Repeated Evaluations
• Developing small Cas9 hybrids using molecular modeling
• Diabetes with GLP-1R polymorphism (rs3765467) accompanied by myotonic dystrophy: A case of myotonic dystrophy with p.R131Q polymorphism at the glucagon-like peptide-1 receptor (rs3765467) resulting in marked effects of its agonist, dulaglutide
• Diagnoses of muscular dystrophy in a veterans health system
• Diagnosis and Management of Myotonic Dystrophy Type 1
• Different neuropsychological and brain volumetric profiles in a pair of identical twins with myotonic dystrophy type 1 indicate a non-genetic modulation of clinical phenotype
• Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus
• Disturbance of the human gut microbiota in patients with Myotonic Dystrophy type 1
• Dysphagia Secondary to Myotonic Dystrophy Unveiled in a Case of Destructive Spondylitis With Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) Syndrome Presenting As Torticollis
• Editorial commentary on "myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital"
• Effects of interrupting residues on DNA dumbbell structures formed by CCTG tetranucleotide repeats associated with myotonic dystrophy type 2
• Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain
• Erythromycin for myotonic dystrophy type 1: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial
• Excessive daytime sleepiness in myotonic dystrophy: a narrative review
• Expert opinion on mexiletine treatment in adult patients with myotonic dystrophy
• Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1
• Forward genetic screen using a gene-breaking trap approach identifies a novel role of <em>grin2bb</em>-associated RNA transcript (<em>grin2bbART</em>) in zebrafish heart function
• From bedside to genetic analysis: New insights into pathophysiology of melanoma, basal cell carcinoma, and other cancers
• Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy
• Generation of three myotonic dystrophy type 1 patient iPSC lines (CBRCULi018-A, CBRCULi019-A, CBRCULi020-A) derived from lymphoblastoid cell lines for disease modelling and therapeutic research
• Greater cortical thinning and microstructural integrity loss in myotonic dystrophy type 1 compared to myotonic dystrophy type 2
• Heterogeneity of cognitive impairments in myotonic dystrophy type 1 explained by three distinct cognitive profiles
• Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity
• Inherited myotonias
• Late-onset myopathies
• Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center
• Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses
• microRNA-mRNA expression profiles in the skeletal muscle of myotonic dystrophy type 1
• Modification of Huntington's disease by short tandem repeats
• Mouse models of non-dystrophic and dystrophic myotonia exhibit nociplastic pain-like behaviors
• Multifaceted nucleic acid probing with a rationally upgraded molecular rotor
• Multiple Follicular Hybrid Tumors Presenting in Association With Myotonic Dystrophy Type 1
• Muscle MRI as a biomarker of disease activity and progression in myotonic dystrophy type 1: a longitudinal study
• Myospreader improves gene editing in skeletal muscle by myonuclear propagation
• Myotonic dystrophy type 1 - a multiorgan disorder
• Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort
• Myotonic dystrophy type 1 in South Korea: a comprehensive analysis of cancer and comorbidity risks
• Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
• Natural history of cardiac involvement in myotonic dystrophy type 1 - Emphasis on the need for lifelong follow-up
• Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy
• Neurocognitive disorder in Myotonic dystrophy type 1
• Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
• NMR structures of small molecules bound to a model of a CUG RNA repeat expansion
• NMR structures of small molecules bound to a model of an RNA CUG repeat expansion
• Normal-Pressure Hydrocephalus-Like Appearance in Myotonic Dystrophy Type 1
• Periodic limb movements during sleep in children with neuromuscular disease or cerebral palsy - An important potential contributor to sleep-related morbidity
• Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia
• Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands
• Posttranscriptional regulation of <em>FAN1</em> by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease
• Prevalence of cardiovascular implantable electronic devices in children with type 1 myotonic dystrophy
• Prevalence of Steinert's Myotonic Dystrophy and Utilization of Healthcare Services: A Population-Based Cross-Sectional Study
• Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing
• Psychosocial resources and psychopathology among persons with neuromuscular disorders during the COVID-19 pandemic
• Recognizing Myopathy in Patients with Muscle Weakness or Pain
• Rescue of Scn5a mis-splicing does not improve the structural and functional heart defects of a DM1 heart mouse model
• Research progress of RNA pseudouridine modification in nervous system
• Resistance training in women with myotonic dystrophy type 1: a multisystemic therapeutic avenue
• Resolving the chromatin impact of mosaic variants with targeted Fiber-seq
• Retinal vascular abnormalities in myotonic dystrophy assessed by optical coherence tomography angiography - Cross-sectional study
• Rettelse: Dystrofia myotonika type 1 – en multiorgansykdom
• RNA mis-splicing in children with myotonic dystrophy is associated with physical function
• Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model
• Small and large fiber neuropathy in adults with myotonic dystrophy type 1
• Statins in hereditary myopathies: to give or not to give
• Structural Studies of a Complex of a CAG/CTG Repeat Sequence-Specific Binding Molecule and A-A-Mismatch-Containing DNA
• Structures of small molecules bound to RNA repeat expansions that cause Huntington's disease-like 2 and myotonic dystrophy type 1
• Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle Regeneration
• The Role of Cognition, Affective Symptoms, and Apathy in Treatment Adherence with Noninvasive Home Mechanical Ventilation in Myotonic Dystrophy
• Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models
• Tissue Doppler ultrasound of arm muscles to assess myotonia in myotonic dystrophies: An exploratory study
• Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2
• Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies
• Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases
• Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
• Zfp697 is an RNA-binding protein that regulates skeletal muscle inflammation and remodeling