1. Repeat-Associated Pathomechanisms
1-1 Repeat instability
P-01 | Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing | Stéphanie Tomé |
1-2 RNA-mediated mechanisms
P-02 | Transcriptome analysis in a primary human muscle cell differentiation model for myotonic dystrophy type 1 | Vanessa Jimayma Todorow |
P-03 | A genome-scale RNAi knock-down screen identifies modifiers of RNA toxicity in myotonic dystrophy | Kaalak Reddy |
P-04 | withdrawn | |
P-05 | Muscleblind-like proteins use modular domains to localize RNAs by riding kinesins and docking to membranes | Ryan Hildebrandt |
1-3 Cell/organoids and animal models
P-06 | Characterisation of DM1 cell culture models by In-Cell Western technology | Andrea López-Martínez |
P-07 | RAN Translation in Myotonic Dystrophy Type 1 Primary Cell Cultures | Gisela Nogales-Gadea |
P-08 | MBNL loss of function in visceral smooth muscle as a model of myotonic dystrophy type 1 | Janel Ann Merkel Peterson |
P-09 | Drug screening using iPSCs derived from myotonic dystrophy type 1 patient | Mika Suga |
P-10 | Bioengineered in vitro 3D models of myotonic dystrophy type 1 human skeletal muscle | Xiomara Fernández-Garibay |
P-11 | Elucidation of the neuropathological defects in iPSC-derived iNeurons from patients with DM1 | Lisa Christina Rahm |
1-4 Tissue specific mechanisms
P-12 | Mechanism of DM1 cardiac pathogenesis | Rong-Chi Hu |
P-13 | Circadian disruptions in myotonic dystrophy type I | Zoe Julia Scherzer |
P-14 | Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes | Mario Gomes-Pereira |
P-15 | Splicing defects in the grey and white matter of Myotonic Dystrophy Type 1 | Kazuki Yoshizumi |
2. Clinical Aspects
2-1 Specific disease features
P-16 | Current status of reproductive medicine for myotonic dystrophy and views of geneticists in Japan | Tsuyoshi Matsumura |
P-17 | Painful muscle spasm with marked hyper-creatine kinase (CK) level after more than twenty weeks of four pregnant women with myotonic dystrophy type 1 (DM1) and a pregnant woman with paramyotonia congen | Masanobu Kinoshita |
P-18 | Sinusitis in myotonic dystrophy: A retrospective study of brain MRI | Michio Kobayashi |
P-19 | Cognitive assessment in patients with myotonic dystrophy type 2 | Vukan Ivanovic |
P-20 | Is Myotonic Dystrophy type 1 (DM1) associated with Mild Cognitive Impairment and Dementia? | Stefan Winblad |
P-21 | Poor visuoconstruction in DM1 through Rey Complex Figure: underlying cognitive processes | Joana Garmendia |
P-22 | Assessment of energy expenditure using doubly labeled water and reported dietary intake in patients with myotonic dystrophy type 1: A preliminary study | George Umemoto |
P-23 | Differential diagnosis of myotonic dystrophy type 2 | Vukan Ivanovic |
P-24 | Dysphagia in Myotonic Dystrophy type 1 (DM1): a single-center experience | valentina Camesasca |
P-25 | A cognitive portrait of adults with the DM1 childhood phenotype | Benjamin Gallais |
P-26 | TREAT-NMD Myotonic Dystrophy (DM) Global Registry Network: An Update in 2022 | Richard Roxburgh |
P-27 | Safety and immunogenicity of mRNA COVID-19 vaccine in patients with muscular dystrophy | Tomoko Saito |
P-28 | Fat accumulation in liver complicated with myotonic dystrophy type 1 is related to insulin resistance rather than muscle mass or CTG repeated elongation. | Hiroto Takada |
P-29 | Identification of individuals with highly interrupted DM1 alleles by the analysis of co-segregating single nucleotide polymorphisms near the CTG expansion | Sarah Ann Cumming |
P-30 | Clinical Symptoms in an 8-Year Old with Myotonic Dystrophy Type 2 | Jordan Bontrager |
P-31 | Nocturnal transcutaneous carbon dioxide measurement in patients with myotonic dystrophy not receiving respiratory therapy | Toshiaki Takahashi |
P-32 | Cluster Analysis of Phenotypic Characteristics in patients with Myotonic dystrophy type 2 | Lana Radenkovic |
P-33 | Congenital and Childhood Myotonic Dystrophy Type 1 in the UK |
Emma-Jayne Ashley |
P-34 | Myotonic dystrophy type 1 multi-organ involvement: combined or independent phenotypic features? | Guillaume Bassez |
P-35 | Are research publications aligned with myotonic dystrophy type 1 individuals’ expectations? | Melinda Gyenge |
2-2 Biomarkers, outcome measures, trial design, etc
P-36 | Multicenter study on the impact of non-invasive ventilation in myotonic dystrophy | Satoshi Kuru |
P-37 | Technology-assisted Rehabilitation for Upper Limb function in Myotonic Dystrophy type 1 | Hanne Ludt Fossmo |
P-38 | The current status of medical care for myotonic dystrophy type 1 in Japan: A comprehensive cross-sectional study using the national registry of Japan. | Kosuke Yamauchi |
P-39 | MRI volumetry and the P40 amplitude following posterior tibial nerve stimulation in patients with DM1 | Shugo Suwazono |
P-40 | Assessment of intelligence in Myotonic dystrophy type 1: a WAIS-IV short-form proposal | Garazi Labayru |
P-41 | Extracellular RNA splice events in cerebrospinal fluid as candidate biomarkers of myotonic dystrophy | Preeti Kumari |
P-42 | Electrical impedance myography predicts muscle function in DM1 patients | Parker Conquest |
P-43 | Muscle-specific miRNAs as potential monitoring biomarkers of muscle wasting progression in DM1 | Leonidas A. Phylactou |
P-44 | Muscle MRI in Myotonic Dystrophy type 1: a long-term follow-up study | Matteo Garibaldi |
P-45 | Gait analysis by IMU sensor in Myotonic Dystrophy type 1 | Laura Tufano |
P-46 | Fatigue in Japanese patients with myotonic dystrophy type 1 (DM1) | Osamu IMURA |
P-47 | TREAT-NMD Myotonic Dystrophy Global Registry Network: Providing Data in Congenital Myotonic Dystrophy to Support FDA Regulatory Decision Making | Richard Roxburgh |
P-48 | Mitochondrial dysfunction in Myotonic Dystrophy type 1 patients | Valeria Di Leo |
P-49 | Histomorphological adaptations in myotonic dystrophy type 1: a 3-year follow-up study | Marie-Pier Roussel |
P-50 | Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1) | Sylvia Nieuwenhuis |
P-51 | The DM-Scope registry: an innovative framework to promote myotonic dystrophy translational research |
Melinda Gyenge |
P-52 | Initial Psychometric Properties of the Congenital Myotonic Dystrophy Type 1 Rating Scale (CDM1-RS) | N. Nikolenko |
3. Therapeutic Strategies and Targets
P-53 | Sustainable recovery of MBNL activity in autoregulatory feedback loop |
Zuzanna Rogalska |
P-54 | Generation of novel compounds for Myotonic Dystrophy type 1 | Joseba Elizazu |
P-55 | Ahulkenoids rescue premature aging phenotypes in Myotonic Dystrophy type 1 | Mikel García-Puga |
P-56 | Musashi-2 overexpression contributes to myotonic dystrophy muscle dysfunction by the repression of miR-7 biogenesis | Maria Sabater Arcis |
P-57 | Peptide conjugated antimiRs rescue Myotonic Dystrophy phenotypes in animal and cell models by promoting MBNL1 expression | Irene González-Martínez |
P-58 | PCSK9 inhibitor mono-treatment and its effect for myotonic dystrophy type I | Hajime Arahata |
P-59 | Efficacy of DPP-4 inhibitors in myotonic dystrophy type 1 with diabetes mellitus: validation by continuous glucose monitoring | Hiroto Takada |
P-60 | Development of psychosocial self-care program for myotonic dystrophy type 1 patients and caregivers | Makiko Endo |
P-61 | Strength exercise program improves transcriptome-level changes in myotonic dystrophy type 1 | Emily E Davey |
P-62 | MBNL dependent-impaired development connectivity within neuromuscular circuits in Myotonic Dystrophy type 1 | Florine Roussange |
P-63 | IPSC-derived pericytes for the alleviation of muscle symptoms in DM1 | Renée Henrica Lamberta Raaijmakers |
P-64 | Assessing therapeutic potential and mechanism of action of novel small molecules in Myotonic Dystrophy type 1 | Jesus Frias |
P-65 | Combinatorial drug therapy for Myotonic Dystrophy Type 1 | Nafisa Neault |
P-66 | A therapeutic approach targeting muscle stem cells to mitigate myotonic dystrophy type 1 | Elise Duchesne |
P-67 | Sleep deprivation induces aging like changes in antigravity muscles of young adult male wistar rats |
Binney Sharma |
P-68 | Advancing antisense therapy against DM1 in a patient-directed manner | Najoua El Boujnouni |
P-69 | Target-agnostic drug discovery approach using informative high-content imaging for identification of a myogenic modulator in DM1 context | Florine Roussange |
P-70 | STARFiSH: Study of Testosterone and rHGH in FSHD: A Proof-of-Concept Study | Chad Heatwole |
P-71 | Exercise enhances the beneficial effect of AICAR in DM1 mouse muscles in a sex-specific manner | Aymeric Ravel-Chapuis |
P-72 | Switch-off the trouble: DMPK promoter targeting by CRISPRi as an original specific therapy in DM1 | Florent Porquet |
P-73 | Fatigue and Sleepiness in the OPTIMISTIC Trial | Niamh Mahon |
P-74 | Altered behavioral responses show GABA sensitivity in Muscleblind-like (Mbnl2) deficient mice: Implications for CNS symptoms in myotonic dystrophy | Kamyra Edokpolor |
P-75 | Hybrid Assistive Limb treatment for Patients with Myotonic dystrophy | Toshio Saito |
P-76 | Aurintricarboxylic Acid Decreases RNA Toxicity in a C. elegans Model of Repeat Expansions | Shachar Shoshani |