Fascinating, US researchers discuss a version of myotonic dystrophy impacting Quarter horses (they found no trinucleotide repeat expansions were not found in the DMPK 3'UTR (CTG)n nor tetranucleotide repeat expansions (CCTG)n in intron 1 of CNBP) journals.plos.org/plosone/arti...

Finnish study: Nuclear MBL-1 modulates mitochondrial morphology through carnitine palmitoyltransferase in Caenorhabditis elegans with toxic trinucleotide repeats www.pnas.org/doi/10.1073/...

#$RNA Avidity adjusts endpoints of del-desiran P3 trial in myotonic dystrophy T1 patients. Now measured at 54 weeks (was 30 weeks). Adds 10 minute walk test as secondary outcome measure clinicaltrials.gov/study/NCT064...

Int'l study: Large-scale Proteomics Profiling of Peripheral Blood of DM1 patients identifies biomarkers for disease severity and functional capacity www.medrxiv.org/content/10.1...

Canadian study: Endogenous circadian rhythm sleep disorders through the lens of nonparametric variables of actigraphy: an exploratory study in myotonic dystrophy type 1 www.researchgate.net/publication/...

Italian/French study: Translational behavioral phenotypes in DMSXL mice for CNS manifestations of DM1 journals.sagepub.com/doi/10.1177/...

Dutch study: The Rasch-transformed gastrointestinal symptoms rating scale in myotonic dystrophy type 1 (RT-GSRS-DM1) www.sciencedirect.com/science/arti....

Multi-center study: A pothole-filling strategy for selective targeting of rCUG-repeats associated with myotonic dystrophy type 1 www.pnas.org/doi/10.1073/...

Belgian study: Quantification of Interactions between Small Molecules and RNA Probes Representative of Myotonic Dystrophy Type 1 Using Affinity Capillary Electrophoresis and UPLC-UV pubs.acs.org/doi/10.1021/...

Spanish study: Genetic anticipation and cardiac conduction abnormalities in myotonic dystrophy type 1: implications for early stratification from a multicenter registry www.sciencedirect.com/science/arti...

Italian review: Myotonic dystrophy and cancer risk: Insights, limitations, and the need for genetic certainty www.jns-journal.com/article/S002...

French study: Predictors of quality of life and social participation in myotonic dystrophy type 1 www.em-consulte.com/article/1784...

Mexican study: Fifteen Years of Myotonic Dystrophy Type 1 in Mexico: Clinical, Molecular, and Socioeconomic Insights from a National Reference Cohort www.mdpi.com/2073-4425/16...

Univ of Florida study: Quantitative Magnetic Resonance Imaging of the Forearm in Myotonic Dystrophy Type 1 www.mdpi.com/2379-139X/11...

Multi-institution study: Atrial arrhythmia ablation in myotonic muscular dystrophy patients: a single institution experience link.springer.com/article/10.1...

Chinese study: Transcriptome-wide isoform and promoter remodeling in DM1 fibroblasts uncovered by long-read RNA sequencing www.sciencedirect.com/science/arti...

Int'l study: Pre- and postsynaptic upregulation of FasII synergistically underlies neuropathological and behavioral phenotypes in a Drosophila model of myotonic dystrophy www.nature.com/articles/s41...

Spanish study: Neural Damage and Inflammation in Myotonic Dystrophy Type 1: Longitudinal Analysis of Serum NFL, GFAP, and IL-6 www.sciencedirect.com/science/arti...

Baylor/Stanford/Oregon study: MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility www.pnas.org/doi/10.1073/...

Stanford/Univ Florida study: Cerebrospinal fluid proteomic profiling reveals potential biomarkers and altered pathways in myotonic dystrophy type 1 www.frontiersin.org/journals/neu...

Italian/Dutch study: Characterizing white matter hyperintensities in myotonic dystrophy type 1 through IVIM derived metrics www.nature.com/articles/s41...

NY/Quebec review: Cardiac Involvement in Myotonic Dystrophy Type 1: Mechanisms, Clinical Perspectives, and Emerging Therapeutic Strategies www.mdpi.com/1422-0067/26...

Univ of Virginia study: Multiple Defects in Muscle Regeneration in the HSALR Mouse Model of RNA Toxicity www.mdpi.com/1422-0067/26...

Japanese study: Plasma Neurofilament Light Chain and Phosphorylated Tau Are Elevated in Myotonic Dystrophy Type 1 www.mdpi.com/2077-0383/14...

Int'l review: 287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28–30 March 2025 www.nmd-journal.com/article/S096...

Dutch/UK review: Pathological mechanism in Fuchs endothelial corneal dystrophy and myotonic dystrophy type 1: more than meets the eye www.researchgate.net/publication/...

Sarepta Provides Progress Update for SRP-1003, its Investigational siRNA treatment for Myotonic Dystrophy Type 1 finance.yahoo.com/news/sarepta...

Japanese study: Potential of Nanopore Long Read Sequencing for Determining CTG Repeat Lengths in the DMPK1 Gene During Prenatal or Preimplantation Genetic Testing obgyn.onlinelibrary.wiley.com/doi/10.1002/...

Italian review: From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy www.sciencedirect.com/science/arti...

Spanish study: Characterization of DMPK and MBNL1 expression in cell models of myotonic dystrophy: a platform for drug screening academic.oup.com/narmolmed/ar...

Japanese study: Corpus Callosum Diffusion Restriction in Neonatal Congenital Myotonic Dystrophy www.cureus.com/articles/416...

French study: Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1 www.researchgate.net/publication/...

Turkish study: Clinical features, quality of life, and fatigue in children with myotonic dystrophy type 1: A cross-sectional study www.sciencedirect.com/science/arti...

Quebec study: Neuropsychological and behavioral outcomes in childhood-onset myotonic dystrophy type 1 through lifespan: a scoping review www.sciencedirect.com/science/arti...

Quebec study: A 12-Week Strength Training Improves Mitochondrial Respiration, H2O2 Emission and Skeletal Muscle Integrity in Women With Myotonic Dystrophy Type 1 onlinelibrary.wiley.com/doi/10.1111/...

Serbian study: HSALR Mice Exhibit Co-Expression of Proteostasis Genes Prior to Development of Muscle Weakness www.mdpi.com/1422-0067/26...

Cincinnati/German study: Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness www.mdpi.com/1422-0067/26...

$ARWR adds a couple of arms to its P1/2a myotonic dystrophy study, pushes out primary completion date 3 months clinicaltrials.gov/study/NCT061...

University of Illinois study: Aberrant Splicing of Dnm1l Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1) www.ahajournals.org/doi/10.1161/...

Norwegian study: Psychometric properties of MFM32 in Myotonic Dystrophy type 1 www.sciencedirect.com/science/arti...

International review: 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 www.nmd-journal.com/article/S096...

Multi-center U.S. study: Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States www.neurology.org/doi/10.1212/...

Costa Rica/Univ. of Florida study: 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 jmg.bmj.com/content/earl...

Carnegie Mellon study: Synthesis of Janus Bases for Targeting C-G and U–U Pairs of CUG-RNA Repeats Associated with Myotonic Dystrophy Type 1 pubs.acs.org/doi/10.1021/...

Important (!!!) new int'l publication:288th ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. www.nmd-journal.com/article/S096...

French study: Predictors of respiratory failure and survival in myotonic dystrophy type 1 journals.sagepub.com/doi/10.1177/...

Yale/NCI study: A novel discovery of elevated risk of neuroendocrine tumors in patients with myotonic dystrophy www.sciencedirect.com/science/arti...

Review in Continuum Journal on Myotonic Dystrophy continuum.aan.com/doi/10.1212/...

Japanese study: In Vivo Evaluation of CTG Repeat-Affected Muscle Pathology in a Myotonic Dystrophy Model Mouse Using Electromyography and Fluorescence In Situ Hybridization link.springer.com/protocol/10....