President's Prize, Young Myologist of the Year

Laurent Servais: Congenital muscular dystrophy phenotype with excess of neuromuscular spindles in a 5-year old girl

President's Prize, Best First Timer

N. Doorenweerd: The Duchenne Brain: A matter of grey and white.

Young researcher in DMD Treatment

N. Wein: Using out-of-frame exon skipping to induce IRES-driven expression of an N-truncated dystrophin isoform for 5’ DMD mutations

Léa Rose Spinal Muscular Atrophy Award

S. Duque: Intrathecal delivery of AAV9 vectors to model and rescue a large animal model of SMA

Elsevier Award for best oral or poster presentation

  1. Debbie Hicks: Collagen XII as a new disease gene for Bethlem-like myopathy
  2. Emily Oates: Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP)
  3. F. Montanaro: Identification of novel dystroglycan-associated glycoprotein complexes in skeletal muscle
  4. C. Kornblum: Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder

Elsevier Runner-up prizes

  1. M. Lek: Systematic identification of causal mutations in Mendelian disorders using exome sequence data
  2. V. Ricotti: Assessing T cell-mediated immune response to dystrophin in the natural history of Duchenne muscular dystrophy
  3. L. Alfano: A shorter timed walking or running test may be sufficient for testing function in Duchenne muscular dystrophy
  4. J. Rendu: Exon skipping as a therapeutic strategy applied to a RyR1 mutation causing severe core myopathy
  5. O. Ceyhan: Transgenic zebrafish expressing mutant skeletal muscle actin, acta1a, model human nemaline myopathy
  6. E. Todd: Next generation sequencing provides diagnosis for multiple foetal akinesia disorders
  7. L. Wallace: The DUX4 promoter is expressed in FSHD-affected tissues
  8. T. Gidaro: OPMD from the myoblast’s and fibroblast’s point of view
  9. A. Vulin: Restoration of dystrophin expression after skipping of single and double exon DMD duplications in patient-derived cell lines using antisense oligonucleotide and AAV-U7snRNA approaches
  10. D Pehl: New insights into eosinophilic fasciitis
  11. C. Preusse: Targeting fibrosis and inflammation in DMD
  12. D. Bharucha-Goebel: Variable clinical and histological features in severe congenital RYR1-associated myopathy
  13. T. Sztal: Exploring the pathological mechanism of Actin myopathies in zebrafish
  14. H. Peay: Expectations and decision making in clinical trials for Duchenne and Becker muscular dystrophy
  15. A. Evila: Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity

Published on 8 October 2013.


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