Posters with odd numbers will be presented in this session.
Basic sciences and the many faces of CMT
- P1: Paola Saveri (Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy)
CMT1E Under the Reflex Hammer and the Microscope: A Clinical and Biological Analysis (abstract in pdf, 224 kb)
- P3: Karen Libberecht (Hasselt University, Belgium)
Lysosomal dysbalance and cargo release by Schwann cells in Charcot-Marie-Tooth disease type 1A (abstract in pdf, 225 kb)
- P5: Alexandra Ekshteyn (VIB Center for Molecular Neurology, Belgium)
HINT1 deficiency impairs actin cytoskeleton and calcium signaling (abstract in pdf, 511 kb)
- P7: Alessandro Bertini (UCL, Italy)
CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project (abstract in pdf, 229 kb)
- P9: Amelie Blum (University Hospital RWTH Aachen, Germany)
Motor neuropathy gene FAM169A interacts with other neuropathy-causing genes at the nuclear envelope (abstract in pdf, 216 kb)
- P11: Melanie Van Brussel (University of Antwerp, Belgium)
Unraveling the macrophage – Schwann cell crosstalk in Charcot-Marie-Tooth disease type 1A (abstract in pdf, 222 kb)
- P13: Michael Sereda (Max Planck Institute of Multidisciplinary Sciences, Germany)
Schmidt-Lanterman Incisure number supports Schwann cell function in Charcot-Marie-Tooth disease 1A (CMT1A) (abstract in pdf, 219 kb)
Methods: diagnostics/genetics of CMT neuropathies
-
P15
:
Danique
Beijer
(Uniklinik RWTH Aachen
,
Germany)
Novel heterozygous NARS1 variant in a family with axonal peripheral neuropathy (abstract in pdf, 223 kb)
-
P17
:
Arman
Cakar
(Istanbul University,
Turkey)
Genetic distribution of inherited peripheral neuropathies in Türkiye (abstract in pdf, 227 kb)
Therapeutic approaches on CMT neuropathies
-
P19
:
Alexia
Kagiava
(The Cyprus Institute of Neurology and Genetics,
Cyprus)
Efficacy of PLGA nanoparticles for Schwann cell targeted gene delivery (abstract in pdf, 219 kb)
-
P21
:
Mehrnaz
Hamedani
(
IRCCS Polyclinic Hospital San Martino,
Italy)
Static and Dynamic Stabilometric Evaluation and Rehabilitation in Peripheral Neuropathy (abstract in pdf, 222 kb)
-
P23
:
Evan
Bailey
(Applied Therapeutics
,
United States of America)
Understanding the Time Course and Evolution of CMT-SORD (Sorbitol Dehydrogenase Deficiency) (abstract in pdf, 206 kb)
-
P25
:
Valérie
Delague
(INSERM/Aix Marseille Université
,
France)
Gene replacement therapy efficiently restores normal phenotype in hiPSC-derived in vitro models of VRK1-related motor neuropathies (abstract in pdf, 233 kb)
Clinical Outcome Measures / Clinical Trials of CMT neuropathies
-
P27:
Beschan
Ahmad
(Max-Planck-Institute for multidisciplinary sciences Göttingen
,
Germany)
Circulating transcriptional biomarkers serve as surrogates of disease progression in Charcot-Marie-Tooth 1A disease (abstract in pdf, 237 kb)
- P29: Gita
Ramdharry
(Queen Square Centre for Neuromuscular Diseases, UCL Institute of Neurology
,
UK)
Better Balance-CMT: Protocol for a randomised, controlled, efficacy and implementation trial of a home-based, balance training intervention for people with Charcot-Marie-Tooth Disease (abstract in pdf, 218 kb)
Project Concept
- P31: Filippo Genovese (ACMT-Rete per la malattia di Charcot-Marie-Tooth OdV)
ACMT-Rete: A Patient-Led Network Integrating Research, Awareness, and Community for Charcot-Marie-Tooth (abstract in pdf, 182 kb)