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 retrospective study of accuracy and usefulness of electrophysiological exercise tests
- Acute cricopharyngeal achalasia after general anesthesia in myotonic dystrophy: A case report
- Acute leg pain and weakness in pregnancy: A new diagnosis of myotonic dystrophy
- An Unusual Case of Hybrid Odontogenic Tumor in Type 1 Myotonic Dystrophy Patient
- Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA sequencing
- 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
- Benefits of Inspiratory Muscle Training in Myotonic Dystrophy: A Case Report
- CAG repeat expansion in the Huntington's disease gene shapes linear and circular RNAs biogenesis
- Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels
- Cardiovascular magnetic resonance in muscular dystrophies: looking ahead
- Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy
- Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release
- 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
- 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
- Combinatorial effects of ion channel mis-splicing as a cause of myopathy in myotonic dystrophy
- Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network
- COVID-19 and myotonic dystrophy type 1: Case report
- Diagnosis and Management of Myotonic Dystrophy Type 1
- Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
- Differences in respiratory function, depressive symptoms and quality of life between patients with hereditary motor and sensory neuropathy and myotonic dystrophy undergoing maintenance rehabilitation
- 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
- Double Trouble Myotonic Dystrophy Type-1 and Parkinson Syndrome Associated with Variants in <em>SYNJI, VPS13C</em>, and <em>DNAJC6</em>
- Double Trouble Myotonic Dystrophy Type-1 and Parkinson Syndrome Associated with Variants in SYNJI, VPS13C, and DNAJC6
- 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"
- Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis
- Efficacy of methylphenidate treatment in childhood myotonic dystrophy type 1 and comorbid attention deficit hyperactivity disorder: A case report using eye tracking assessment
- Electrophysiological basis of cardiac arrhythmia in a mouse model of myotonic dystrophy type 1
- Enhancing evidence-informed policymaking in medicine and healthcare: stakeholder involvement in the Commons Project for rare diseases in Japan
- Erythromycin for myotonic dystrophy type 1: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial
- 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
- 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
- Further insights into afterdischarges as a diagnostic marker for myotonic dystrophy type 1
- 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
- Genetic and sporadic forms of tauopathies-TAU as a disease driver for the majority of patients but the minority of tauopathies
- Genetics, Trinucleotide
- Hospital admissions from the emergency department of adult patients affected by myopathies
- Impact of gastrointestinal and urological symptoms in children 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
- Massive contractions of Myotonic Dystrophy Type 2-associated CCTG tetranucleotide repeats occur via double strand break repair with distinct requirements for DNA helicases
- Massive contractions of myotonic dystrophy type 2-associated CCTG tetranucleotide repeats occur via double-strand break repair with distinct requirements for DNA helicases
- Mexiletine in Myotonic Dystrophy Type 1
- Mexiletine in Myotonic Dystrophy Type 1: A Randomized, Double-Blind, Placebo-Controlled Trial
- Modification of Huntington's disease by short tandem repeats
- Msi2 enhances muscle dysfunction in a myotonic dystrophy type 1 mouse model
- Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
- Multifaceted nucleic acid probing with a rationally upgraded molecular rotor
- Multiple hydrogen bonding driven supramolecular architectures and their biomedical applications
- 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 (Steinert disease): 29 years of experience at a tertiary pediatric hospital
- Myotonic dystrophy type 1 in South Korea: a comprehensive analysis of cancer and comorbidity risks
- Myotonic dystrophy type 1: palliative care guidelines
- Myotonic Dystrophy-1 and Parkinson's Disease: Clarify the Role of CTG-repeat Size and Variants in <em>VPS13C, SYNJ1</em>, and <em>DNAJC6</em>
- Myotonic Dystrophy-1 and Parkinson's Disease: Clarify the Role of CTG-repeat Size and Variants in VPS13C, SYNJ1, and DNAJC6
- 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
- No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon
- Normal-Pressure Hydrocephalus-Like Appearance in Myotonic Dystrophy Type 1
- Obstructive Sleep Apnea Treatment with Oral Appliance in a Myotonic Dystrophy Type I Subject: A Case Report
- Outcomes of BRCA pre-implantation genetic testing according to the parental mutation origin: a cohort study
- Patient engagement in clinical trial design for rare neuromuscular disorders: impact on the DELIVER and ACHIEVE clinical trials
- Polysomnographic findings of myotonic dystrophy type 1/type 2: evidence from case-control studies
- Polysomnographic findings of myotonic dystrophy type1/type 2: evidence from case-control studies
- Posttranscriptional regulation of <em>FAN1</em> by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease
- Prevalence of Steinert's Myotonic Dystrophy and Utilization of Healthcare Services: A Population-Based Cross-Sectional Study
- Primary mediastinal large B-cell lymphoma complicated with myotonic dystrophy
- Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy
- Prophylactic immunoglobulin therapy for pediatric congenital myotonic dystrophy
- Psychological Factors Influencing Adherence to NIV in Neuromuscular Patients Dependent on Non Invasive Mechanical Ventilation: Preliminary Results
- Research progress of RNA pseudouridine modification in nervous system
- Retinal vascular abnormalities in myotonic dystrophy assessed by optical coherence tomography angiography - Cross-sectional study
- Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies
- Small and large fiber neuropathy in adults with myotonic dystrophy type 1
- Small bowel obstruction secondary to phytobezoar in a patient with myotonic dystrophy
- Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle Regeneration
- The Muscleblind-like protein MBL-1 regulates microRNA expression in Caenorhabditis elegans through an evolutionarily conserved autoregulatory mechanism
- Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2
- Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases
- Treatment of bilateral encrusted ureteral stents, large volume renal stones, and ureteral stricture in a complex pediatric patient: a surgical video and case review
- Trinucleotide Repeat Disorders
- Trunk muscle dysfunction in patients with myotonic dystrophy type 2 and its contribution to chronic low back pain
- 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
- Whether Inspiratory Muscle Training Really Makes Sense in Myotonic Dystrophy Requires Appropriately Designed Trials
- Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias