• <em>SCN4A</em>-related congenital myopathy in a Han Chinese patient: A case report and literature review
• A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene
• AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges
• Acute cricopharyngeal achalasia after general anesthesia in myotonic dystrophy: A case report
• Anesthesia for a Patient with Undiagnosed Myotonic Dystrophy
• Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA)
• Behavioral Management of Respiratory/Phonatory Dysfunction for Dysarthria Associated With Neurodegenerative Disease: A Systematic Review
• Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children
• CAG repeat expansion in the Huntington's disease gene shapes linear and circular RNAs biogenesis
• CaMKIIbeta deregulation contributes to neuromuscular junction destabilization in Myotonic Dystrophy type I
• Characterization of ClC-1 chloride channels in zebrafish: a new model to study myotonia
• Characterization of theory of mind performance in patients with myotonic dystrophy type 1
• Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release
• Clinical and genetic characteristics of myotonia congenita in Chinese population
• Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients
• Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
• Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls
• 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?
• Combinatorial effects of ion channel mis-splicing as a cause of myopathy in myotonic dystrophy
• Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation - An Error of Glycosylation Masquerading as a Congenital Myopathy
• Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita
• 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
• Diagnosis and Management of Myotonic Dystrophy Type 1
• Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
• Diagnostics in skeletal muscle channelopathies
• Differences in diffusion tensor imaging parameters of brain white matter tracts between patients with myotonic dystrophy type 1 and type 2 - a retrospective single-centre study
• 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
• 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
• Diverse biophysical mechanisms in voltage-gated sodium channel Na_v1.4 variants associated with myotonia
• Dynamic Correlations and Disorder in the Masticatory Musculature Network
• Editorial commentary on "myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital"
• Efficacy of methylphenidate treatment in childhood myotonic dystrophy type 1 and comorbid attention deficit hyperactivity disorder: A case report using eye tracking assessment
• Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain
• Excessive daytime sleepiness in myotonic dystrophy: a narrative review
• Executive functions and daily functioning in myotonic dystrophy type 1 ecological assessment with virtual reality
• Expert Insights from a Delphi-driven Neurologists' Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy
• Frequency and satisfaction of conventional and complementary or alternative therapies for neuromuscular disorders
• From bedside to genetic analysis: New insights into pathophysiology of melanoma, basal cell carcinoma, and other cancers
• Gastrointestinal involvement in neuromuscular disorders
• Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy
• Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A)
• 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
• Genomic epidemiology of SARS-CoV-2 δ sublineages of the second wave of 2021 in Antioquia, Colombia
• Greater cortical thinning and microstructural integrity loss in myotonic dystrophy type 1 compared to myotonic dystrophy type 2
• Hospital admissions from the emergency department of adult patients affected by myopathies
• Idiopathic generalized epilepsy in a family with SCN4A-related myotonia
• Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1
• Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
• Inherited myotonias
• Integrative Proteogenomics for Differential Expression and Splicing Variation in a DM1 Mouse Model
• Late-Onset Proximal Myotonic Myopathy (PROMM): A Rare Presentation in an Adult
• 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
• Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom
• Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center
• Male infertility with muscle weakness: a point of view
• microRNA-mRNA expression profiles in the skeletal muscle of myotonic dystrophy type 1
• Modeling Myotonic Dystrophy Type 2 Using <em>Drosophila melanogaster</em>
• Modification of Huntington's disease by short tandem repeats
• Mouse models of non-dystrophic and dystrophic myotonia exhibit nociplastic pain-like behaviors
• Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
• Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier
• 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 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
• Øyesykdom ved dystrophia myotonica type 1
• Patient engagement in clinical trial design for rare neuromuscular disorders: impact on the DELIVER and ACHIEVE clinical trials
• Pediatric neuromuscular channelopathies
• Periodic limb movements during sleep in children with neuromuscular disease or cerebral palsy - An important potential contributor to sleep-related morbidity
• 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
• Primary mediastinal large B-cell lymphoma complicated with myotonic dystrophy
• Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy
• Psychosocial functioning in patients with altered facial expression: a scoping review in five neurological diseases
• 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
• Rettelse: Dystrofia myotonika type 1 – en multiorgansykdom
• Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies
• Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants
• Small bowel obstruction secondary to phytobezoar in a patient with myotonic dystrophy
• Special electromyographic features in a child with paramyotonia congenita: A case report and review of literature
• Statins in hereditary myopathies: to give or not to give
• Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle Regeneration
• Systemic Diseases and Heart Block
• The Muscleblind-like protein MBL-1 regulates microRNA expression in Caenorhabditis elegans through an evolutionarily conserved autoregulatory mechanism
• Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models
• Thomsen's Disease and Psychiatric Misdiagnosis: a Case Report
• Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2
• Two cases of potassium-aggravated myotonia induced by SCN4A gene variation
• Ultra-widefield imaging and peripheral optical coherence tomography of peripheral reticular pigmentary degeneration (PRPD) in myotonic dystrophy
• Verapamil mitigates chloride and calcium bi-channelopathy in a myotonic dystrophy mouse model
• Visuoconstructional impairment in DM1: exploring underlying cognitive processes through the Rey complex figure