Evaluation of the methodology of independent Community Advisory Boards in health products research and development: a mixed-methods cross-sectional survey study.

Progressive cardiac phenotypes and reduced reversibility from long-term CUGexp RNA expression in a DM1 mouse model.

Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1.

Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review.

CRISPR Gene Editing for Nucleotide Repeat Expansion Disorders: A Systematic Review of Preclinical and Clinical Evidence.

Stepwise transcription stalling by the anti-cancer drug Actinomycin D and insights into short tandem repeat transcription inhibition.

Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1.

MRCKα Is a Suppressor of GEF-H1/RhoA/MRTF Signaling in Tubular Cells.

Delpacibart etedesiran improves the molecular pathology of myotonic dystrophy type 1 in the phase 1/2 MARINA study.

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1).

A systems perspective on rare diseases: integrating human phenotype ontology with the Anukta framework of Ayurveda.

Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 mice.

Fading Muscle and a Flaccid Bladder: Atonic Bladder in a Case of Myotonic Dystrophy-A Case Report.

What Is in the Myopathy Literature?

Clinical and healthcare burden of myotonic dystrophy type 1 (DM1) in the United States: a claims-based study.

Intraocular pressure and corneal biomechanics in patients affected by myotonic dystrophy type 1.

Clinical features, quality of life, and fatigue in children with myotonic dystrophy type 1.

Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1.

Elevated Risk of Endometrial Cancer and Precursor Lesions in Patients With Myotonic Dystrophy: A Retrospective Study at a Single Institution in Japan.

Test-Retest Reliability of Remote Assessments in Patients With Myotonic Dystrophy Type 1.

A New His-Ventricular Threshold for Myotonic Dystrophy Type 1.

A New His-Ventricular Threshold for Myotonic Dystrophy Type 1-Reply.

Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant.

Statins in Genetic Myopathies: A Retrospective Analysis of Safety and Tolerability.

Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1.

Modeling myotonic dystrophy type 1 with hiPSCs-derived cardiac organoids reveals key disease mechanisms.

Modified Polycyclic Compounds Rescue Mis-splicing in Myotonic Dystrophy Type 1 Disease Models.

Identification of enzymatically modified isoquercitrin as a therapeutic lead for myotonic dystrophy type 1.

An Antibody-Oligonucleotide Conjugate for Myotonic Dystrophy Type 1.

Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 1.

Potential pitfalls in the differential diagnosis of myositis versus hereditary myopathies.

Quantitative susceptibility mapping in myotonic dystrophy: clinical relevance of subcortical iron accumulation.

MBNL2 dysfunction in outer radial glial cells is associated with disrupted corticogenesis in congenital myotonic dystrophy.

Substance use may be associated with non-adherence to non-invasive ventilation in adults with myotonic dystrophy type 1.

High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial.

Disruptions of cell signaling pathways in myotonic dystrophy type 1 skeletal muscle, their pathogenic impact, and potential for combinatorial therapeutics.

Assessment of safety and efficacy of risdiplam treatment in adults with spinal muscular atrophy.

Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy.

Neonatal congenital myotonic dystrophy with DMPK gene expansion: clinical features and short-term outcomes.

Cardiac conduction abnormalities in myotonic dystrophy type I: The ongoing value of the ECG.

Nuclear MBL-1 modulates mitochondrial morphology through carnitine palmitoyltransferase in Caenorhabditis elegans with toxic trinucleotide repeats.

Role of Cardiovascular Magnetic Resonance in Diagnosis and Management of Muscular Dystrophies.

Endogenous circadian rhythm sleep disorders through the lens of nonparametric variables of actigraphy: an exploratory study in myotonic dystrophy type 1.

Chylous Collection in the Pacemaker Pocket Masquerading as Infection.

Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity.

Dropped Head Syndrome Unmasking Myotonic Dystrophy Type 1 in a Patient with Parkinson's Disease: A Case Report and a Case-Based Review.

Translational behavioral phenotypes in DMSXL mice for CNS manifestations of DM1.

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies.

Emerging therapeutic strategies in muscular dystrophy: an updated review on pathogenesis and treatment advances.

The Rasch-transformed gastrointestinal symptoms rating scale in myotonic dystrophy type 1 (RT-GSRS-DM1).

A pothole-filling strategy for selective targeting of rCUG-repeats associated with myotonic dystrophy type 1.

Quantification of Interactions between Small Molecules and RNA Probes Representative of Myotonic Dystrophy Type 1 Using Affinity Capillary Electrophoresis and UPLC-UV.

Bridging the gap in sexuality and neuromuscular disorders: a scoping review of an overlooked but crucial topic.

Genetic anticipation and cardiac conduction abnormalities in myotonic dystrophy type 1: implications for early stratification from a multicenter registry.

Myotonic dystrophy and cancer risk: Insights, limitations, and the need for genetic certainty.

Predictors of quality of life and social participation in myotonic dystrophy type 1.

Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort.

Quantitative Magnetic Resonance Imaging of the Forearm in Myotonic Dystrophy Type 1.

Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice?

Atrial arrhythmia ablation in myotonic muscular dystrophy patients: a single institution experience.

DNA extrusion size determines pathway choice during CAG repeat expansion.

Pre- and postsynaptic upregulation of FasII synergistically underlies neuropathological and behavioral phenotypes in a Drosophila model of myotonic dystrophy.

Transcriptome-wide isoform and promoter remodeling in DM1 fibroblasts uncovered by long-read RNA sequencing.

Neural damage and inflammation in myotonic dystrophy type 1: Longitudinal analysis of serum NFL, GFAP, and IL-6.

Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1.

MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility.

Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study.

Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015-2025).

A Live-Cell NanoBRET Assay to Monitor RNA-Protein Interactions and Their Inhibition by Small Molecules.

Characterizing white matter hyperintensities in myotonic dystrophy type 1 through IVIM derived metrics.

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios.

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy.

Massive Splenic Infarction: A Rare Entity in a Female Teenager.

Cardiac Involvement in Myotonic Dystrophy Type 1: Mechanisms, Clinical Perspectives, and Emerging Therapeutic Strategies.

Multiple Defects in Muscle Regeneration in the HSALR Mouse Model of RNA Toxicity.

Plasma Neurofilament Light Chain and Phosphorylated Tau Are Elevated in Myotonic Dystrophy Type 1.

Development and Validation of a Disease-Specific, Patient-Reported Outcome Measure: The Myotonic Dystrophy Type 2 Health Index.

287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28-30 March 2025.

Reduced Muscular Carnosine in Proximal Myotonic Myopathy-A Pilot 1H-MRS Study.

Pathological mechanism in Fuchs endothelial corneal dystrophy and myotonic dystrophy type 1: more than meets the eye.

Potential of Nanopore Long Read Sequencing for Determining CTG Repeat Lengths in the DMPK1 Gene During Prenatal or Preimplantation Genetic Testing.

From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy.

Characterization of DMPK and MBNL1 expression in cell models of myotonic dystrophy: a platform for drug screening.

Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1.

Corpus Callosum Diffusion Restriction in Neonatal Congenital Myotonic Dystrophy.

A 12-Week Strength Training Improves Mitochondrial Respiration, H2O2 Emission and Skeletal Muscle Integrity in Women With Myotonic Dystrophy Type 1.

AAV-mediated DMPK silencing: A defining moment in myotonic dystrophy type 1 therapeutics.

Clinical features, quality of life, and fatigue in children with myotonic dystrophy type 1: A cross-sectional study.

Neuropsychological and behavioral outcomes in childhood-onset myotonic dystrophy type 1 through lifespan: a scoping review.

Huntington disease: somatic expansion, pathobiology and therapeutics.

HSALR Mice Exhibit Co-Expression of Proteostasis Genes Prior to Development of Muscle Weakness.

Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness.

Aberrant Splicing of DNM1L Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1).

From Mutations to Microbes: Investigating the Impact of the Gut Microbiome on Repeat Expansion Disorders.

Psychometric Properties of MFM32 in Myotonic Dystrophy Type 1.

Unusual dermoscopic features of multiple pilomatricomas, including a rare bullous variant.

Gastrointestinal Manifestations As the Initial Presentation of Neurological Disease.

284th ENMC International Workshop: Cognitive and behavioral abnormalities in pediatric DM1; what should we measure in preparation for clinical trials? Hoofddorp, The Netherlands, January 24-26 2025.

Different operationalizations of the capability approach in evaluating rehabilitation for persons with neuromuscular diseases: a mixed-methods study.

Health-related quality of life, pain, and fatigue in myotonic dystrophy type 2: a 13-year follow-up study.

Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States.

Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity.

Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.

Synthesis of Janus Bases for Targeting C‑G and U-U Pairs of CUG-RNA Repeats Associated with Myotonic Dystrophy Type 1.

Comparative Analysis of CRISPR/Cas9-targeted Nanopore Sequencing Approaches in Repeat Expansion Disorders.

288th ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. 16-18 May 2025, Hoofddorp, the Netherlands.

Predictors of respiratory failure and survival in myotonic dystrophy type 1.

A novel discovery of elevated risk of neuroendocrine tumors in patients with myotonic dystrophy.

Cortical thinning and white matter alterations in myotonic dystrophy type 2 over a 10-year period.

Automated Classification of Neuromuscular Diseases Using Thigh Muscle MRI With Model Interpretations.

Myopathies: Radiologist's Essential Tips for Clinical, Pathologic, and Imaging Findings.

Autoimmunity-associated DIORA1 binds the MRCK family of serine/threonine kinases and controls cell motility.

In Vivo Evaluation of CTG Repeat-Affected Muscle Pathology in a Myotonic Dystrophy Model Mouse Using Electromyography and Fluorescence In Situ Hybridization.

Therapeutic advances in type 1 myotonic dystrophy complicated with type 2 diabetes mellitus.

Adherence to Non-Invasive Ventilation in Steinert Disease: Clinical and Psychological Insights.

Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy.

Elimination of myotonia improves myopathy in a muscleblind knockout model of myotonic dystrophy.

Non-muscle myosin II-dependent cumulus cell migration at ovulation is required for sperm to reach the egg in mice.

Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1.

Effectiveness of the capability approach in rehabilitation for persons with neuromuscular diseases: A controlled before-after study.

Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives.

Echocardiographic evaluation of cardiac function in patients with myotonic dystrophy - is the right ventricular dysfunction observed? One academic center experience.

Discovery of RNA-Reactive Small Molecules Guides the Design of Electrophilic Modules for RNA-Specific Covalent Binders.

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells.

Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis.

Efficacy and safety of respiratory strength and endurance training in patients with myotonic dystrophy type 1 (DM1): a randomized controlled trial.

Sudden Death Caused by Bilateral Diaphragmatic Eventration in Myotonic Dystrophy Type 1.

Video-Based Biomechanical Analysis Captures Disease-Specific Movement Signatures of Different Neuromuscular Diseases.

[Expert consensus on the diagnosis and treatment of sleep-disordered breathing related to neuromuscular diseases].

Muscle-driven spinal cord histological and transcriptomic alterations in a myotonic dystrophy mouse model: insights into neuropathy.

Beyond Prevalence: The Importance of Multifactorial Assessment in Cancer Risk Among Myotonic Dystrophy Patients.

Development of an AAV-delivered microRNA gene therapy for myotonic dystrophy type 1.

Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy.

circARHGAP10 as a candidate biomarker and therapeutic target in myotonic dystrophy type 1.

Aphasia Leading to the Diagnosis of Myotonic Dystrophy Type 1: A Case Report.

CircularRNA and Musculoskeletal Diseases.

Population Pharmacokinetics of Tideglusib in Congenital and Childhood Myotonic Dystrophy Type 1: Influence of Demographic and Clinical Factors on Systemic Exposure.

Streamlined Fragment-Based Discovery Platform for Targeting Structured RNAs.

Co-Opting MBNL-Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy.

Measuring Myotonia: Normative Values and Comparison with Myotonic Dystrophy Type 1.

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Three cases of pregnancies complicated with myotonic dystrophy type 1.

Living and coping with adult-onset myotonic dystrophy type 1 from the perspectives of caregivers.

Promoter-targeted small RNA duplexes increase MBNL1 transcription and mitigate myotonic dystrophy-associated spliceopathy.

Differential pathology and susceptibility to MBNL loss across muscles in myotonic dystrophy mouse models.

Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials.

The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1.

Spectrum of Cancers and Their Prognosis Among Patients With Myotonic Dystrophy.

Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1.

Emerging drivers of DNA repeat expansions.

Lymphatic dysplasia evaluated by indocyanine green lymphography in congenital myotonic dystrophy.

The "greta oto" sign for diagnosing axial myopathy with low back pain as the major clinical manifestation: a novel MRI sign with report of four cases.

Non-invasive mechanical ventilation for chronic hypoventilation in myotonic dystrophy.

Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development.

Assessing the Safety and Efficacy of Lamotrigine as Anti-myotonic Agent in Myotonic Dystrophy Type 1 (DM1): A Longitudinal, Open-Label, Pilot Study.

Innovations In Physical Medicine and Rehabilitation: Advances in the Diagnosis, Treatment, and Care of Amyotrophic Lateral Sclerosis.

Efficacy of Manual Wheelchair Skills Training for Improving Skills and Confidence in People With Hereditary Degenerative Disorders: Protocol for a Sequential Multimethods Study.

Drug delivery agent that acts as a drug for synergistic activity.

Assessment of psychosocial adjustment and reduced initiative in children with myotonic dystrophy type 1: a pilot study on the reliability and clinical utility of a short parent-report questionnaire.

Exon Skipping by Ultrasound-Enhanced Delivery of Morpholino with Bubble Liposomes for Myotonic Dystrophy Model Mice.

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

Evaluation of echocardiography monitoring in myotonic dystrophy type 1 patients.

Oxford Nanopore third generation sequencing for analysis of FMR1 5'UTR CGG repeat expansions.

Quantitative brain volumetry in neurological disorders: from disease mechanisms to software solutions.

"This Disease Is a Verdict You Must Live With for the Rest of Your Life": Experiences and Perspectives From People Living With Adult-Onset Myotonic Dystrophy Type 1.

Signals of complexity and fragmentation in accelerometer data.

IgG4-Related Disease Associated With Myotonic Dystrophy Type 2.

Diagnosis of Myotonic Dystrophy Based on a History of Grip Myotonia in a 21-Year-Old Woman Undiagnosed for Five Years: A Case Report.

Cancer and benign tumors in myotonic dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy: a 23-year, single-center, retrospective study.

Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles.

Christmas tree cataract: an ocular clue to myotonic dystrophy.

Repeat length as a key determinant for disease severity and antisense oligonucleotide activity in myotonic dystrophy type 1.

Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches.

miR-107 represses DMPK and is sequestered by CUG repeats triggering the MSI2/miR-7 pathogenesis axis in myotonic dystrophy.

Long-Term Follow-Up of Inducible Bundle Branch Reentrant Ventricular Tachycardia in Patients Without Structural Heart Disease: Beyond the Electrophysiology Laboratory.

Elevated Cancer Prevalence Identified at Specific Anatomical Sites Among People With Myotonic Dystrophy Using a Population-Based Sample.

The Impact of Splicing Dysregulation on Neuromuscular Disorders and Current Neuromuscular Genetic Therapies.

Comparative Analysis of MBNL1 Antibodies: Characterization of Recognition Sites and Detection of RNA Foci Colocalization.

Extended Cardiac Rhythm Monitoring Detects More Arrhythmias in Myotonic Dystrophy Patients.

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.

The Role of Actigraphy in the Assessment of Central Disorders of Hypersomnolence: A Systematic Review and Meta-Analysis.

Short tandem repeat variants are possibly associated with RNA secondary structure and gene expression.

Left ventricular systolic dysfunction screening in muscular dystrophies using deep learning-based electrocardiogram interpretation.

Societal Costs, Healthcare Utilisation and Labour Market Affiliation of Persons With Adult-Onset Myotonic Dystrophy Type 1 (DM1)-A Register-Based Study II.

General anesthesia using remimazolam in an extremely preterm infant with myotonic dystrophy.

Multisystem Symptoms in Myotonic Dystrophy Type 1: A Management and Therapeutic Perspective.

Prevalence and prognostic impact of cardiac resonance abnormalities in myotonic dystrophy patients.

Current understanding of skeletal muscle repeat expansion disorders.

Myotonic dystrophy-related CDC42-binding kinase alpha (MRCKα) mediates methionine- and leucine-stimulated β-casein synthesis in bovine mammary epithelial cells via targeting mTOR.

Left bundle branch area pacing in a case of Steinert's disease.

A multi-sensor approach to improve interpretability of the 6-min walk test as an outcome in muscular dystrophies: an observational study.

[Phenomenon of anticipation in a patient with dystrophic myotonia type 1].