Posters with odd numbers will be presented in this session.

Basic sciences and the many faces of CMT

  • P2: Nathan Donies (University of Antwerp , Belgium)
    SCREEN4PN: Efficient evaluation of therapeutic compounds for Charcot-Marie-Tooth disease using patient-derived induced motor neurons and neuromuscular organoids (abstract in pdf, 193 kb)
  • P4: Francesco Gentile (San Raffaele Scientific Institute , Italy)
    Genetic and pharmacologic modulation of the ATF6 UPR-related pathway affect disease pathogenesis in CMT1B (abstract in pdf, 235 kb)
  • P6: Nathalie Dirkx (Hasselt University , Belgium)
    Phenotypic and functional impairments in human CMT1A Dental Pulp Stem Cell-derived Schwann cells (abstract in pdf, 223 kb)
  • P8: Hanne Jeurissen (Hasselt University , Belgium)
    Cellular stress responses induced by PMP22 overexpression in Charcot-Marie-Tooth disease type 1A (abstract in pdf, 225 kb)
  • P10: Akram Khanghahi (UAntwerpen - VIB Center for Molecular Neurology, Belgium)
    Modelling YARS-Related Charcot-Marie-Tooth Disease: Establishing a Link Between YARS1-related Neurodegeneration and Mitochondrial Dysfunction (abstract in pdf, 216 kb)
  • P12: Yara Lambrechts (BIOMED-UHasselt + VIB-KU Leuven , Belgium)
    The impact of Schwann cell differentiation on transgene expression in human stem cells (abstract in pdf, 216 kb)

Methods: diagnostics/genetics of CMT neuropathies

  • P14: Katherine Forsey (Charcot-Marie-Tooth Association , USA / UK)
    An In Vitro Model for Motor Neurons Displays Axonal and Mitochondrial Deficiencies Associated With Charcot-Marie-Tooth Disease Type 2A (abstract in pdf, 221 kb)
  • P16: Edouard Berling (Paris-Saclay , France)
    Whole-Body muscle MRI in Non‑5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications (abstract in pdf, 259 kb)
  • P18: Christopher J Record (UCL Queen Square IoN , UK)
    A neuropathy-mitochondrial multidisciplinary team meeting: enhancing diagnosis (abstract in pdf, 210 kb)

Therapeutic approaches on CMT neuropathies

  • P20: Laurence Lee (University College London , United Kingdom) 
    “Getting the Balance Right”: Co-creating a Sensory-Integrated Balance Programme for People Living with Charcot-Marie-Tooth Disease (abstract in pdf, 210 kb)
  • P22: Barbara Chaloupek (CMT-Austria Patients Self-help Organisation , Austria)
    Patient survey: The lived experience with Charcot-Marie-Tooth in Austria: therapies actually used and medical care (abstract in pdf, 213 kb)
  • P24: Eleonora Cavalca (Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy)
    Physiotherapy in Charcot-Marie-Tooth Disease: insights from the Italian CMT Registry (abstract in pdf, 233 kb)
  • P26: Martina D'Agostino (IRCCS Ca’ Granda Ospedale Maggiore Policlinico , Italy)
    AAV9 MFN1 gene therapy as proof of principle for the treatment of CMT2A (abstract in pdf, 214 kb)

Clinical Outcome Measures / Clinical Trials of CMT neuropathies

  • P28: Ana Claudia Mattiello-Sverzut (Ribeirão Preto Medical School, University of São Paulo , Brazil)
    Responses to the cardiopulmonary exercice test for upper limbs in children and adolescents with Charcot-Marie-Tooth disease (abstract in pdf, 228 kb)

Project concepts

  • P30: Filippo Genovese (European CMT Federation (ECMTF), Belgium)
    The European CMT Federation (ECMTF): A Unified Voice to Accelerate Research and Raise Awareness for CMT (abstract in pdf, 209 kb)

Late-breaking

  • P32: Lydia Jestice (University of Sheffield, UK)
    Investigating Axonal Transport In Charcot-Marie-Tooth Disease Type 2A Using A Pluripotent Stem Cell-based Model  (abstract in pdf, 197 kb)