1. Repeat-Associated Pathomechanisms
  2. Clinical Aspects
  3. Therapeutic Strategies and Targets

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P-04 withdrawn   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