Disease: Myotonia atrophica
- 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