Disease: Paramyotonia congenita
- <em>In Cis</em> Effect of <em>DMPK</em> Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array
- <em>SCN4A</em>-related congenital myopathy in a Han Chinese patient: A case report and literature review
- A case of early onset diabetes with myotonic dystrophy type 1
- Acute cricopharyngeal achalasia after general anesthesia in myotonic dystrophy: A case report
- Afterdischarges in myotonic dystrophy type 1
- 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
- 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
- Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1
- 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
- Cold and warmth intensify pain-linked sodium channel gating effects and persistent currents
- Combinatorial chloride and calcium channelopathy in myotonic dystrophy
- Combinatorial effects of ion channel mis-splicing as a cause of myopathy in myotonic dystrophy
- Computational identification and molecular dynamics simulation of potential circularRNA derived peptide from gene expression profile of Rheumatoid arthritis, Alzheimer's disease, and Atrial fibrillation
- Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation - An Error of Glycosylation Masquerading as a Congenital Myopathy
- Congenital Myopathy as a Phenotypic Expression of <em>CACNA1S</em> Gene Mutation: Case Report and Systematic Review of the Literature
- Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita
- 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
- 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
- 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
- Emigration of Scientists From Czechoslovakia During the Soviet Domination
- Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain
- Evaluation of myotonometry for myotonia, muscle stiffness and elasticity in neuromuscular disorders
- 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
- Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy
- 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
- Genetics, Trinucleotide
- Genomic epidemiology of SARS-CoV-2 δ sublineages of the second wave of 2021 in Antioquia, Colombia
- 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
- Individual transcriptomic response to strength training for patients with myotonic dystrophy type 1
- 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
- Male infertility with muscle weakness: a point of view
- Mitochondrial Dysfunction in Repeat Expansion Diseases
- Modeling Myotonic Dystrophy Type 2 Using <em>Drosophila melanogaster</em>
- Modification of Huntington's disease by short tandem repeats
- Motor unit number estimation by MScanFit in myotonic dystrophies
- Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
- Muscle channelopathies
- Muscleblind-like proteins use modular domains to localize RNAs by riding kinesins and docking to membranes
- Myotonic dystrophy type 1 - a multiorgan disorder
- Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort
- Natural Compound Boldine Lessens Myotonic Dystrophy Type 1 Phenotypes in DM1 Drosophila Models, Patient-Derived Cell Lines, and HSA<sup>LR</sup> Mice
- Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy
- Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function
- Øyesykdom ved dystrophia myotonica type 1
- Patient engagement in clinical trial design for rare neuromuscular disorders: impact on the DELIVER and ACHIEVE clinical trials
- Posttranscriptional regulation of <em>FAN1</em> by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease
- Prediction of respiratory impairment in myotonic dystrophies using the 'Respiratory involvement symptom checklist' (Respicheck)
- Primary mediastinal large B-cell lymphoma complicated with myotonic dystrophy
- Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy
- Proximal myopathy: causes and associated conditions
- 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
- Research progress of RNA pseudouridine modification in nervous system
- Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1
- Restoring myogenesis in myotonic dystrophy
- Role of respiratory characteristics in treatment adherence with noninvasive home mechanical ventilation in myotonic dystrophy type 1, a retrospective study
- 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
- Sleep disorders and fatigue in patients with different forms of myotonic dystrophy type 1
- 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
- Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle Regeneration
- Suitability of the Respicheck questionnaire and Epworth sleepiness scale for therapy monitoring in myotonic dystrophy type 1
- Systemic Diseases and Heart Block
- The current clinical perception of myotonic dystrophy type 2
- The Muscleblind-like protein MBL-1 regulates microRNA expression in Caenorhabditis elegans through an evolutionarily conserved autoregulatory mechanism
- The role of sleep in neuromuscular disorders
- Therapeutic Targeting of the GSK3β-CUGBP1 Pathway in Myotonic Dystrophy
- Thomsen's Disease and Psychiatric Misdiagnosis: a Case Report
- Three-dimensional quantitative muscle ultrasound in patients with facioscapulohumeral dystrophy and myotonic dystrophy
- Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2
- Trinucleotide Repeat Disorders
- 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