Kristen Nowak: Efficacy of cardiac actin over-expression therapy for ACTA1 disease seems mutation specific (CO3)
Kate Quinlan: ACTN3 genotype influences skeletal muscle performance through alterations in calcineurin signaling (GP125)
Faraz Farooq: Induction of SMN protein by combination of STAT5 and p38 kinase activating, clinic ready compounds for the treatment of SMA (TP8)
Aurélie Goyenvalle: Tricyclo-DNA: A promising chemistry for the synthesis of antisense molecules for splice-switching approaches in DMD (TO3)
Special Prize
The DMD Upper Limb Function working group: T. Duong, M. Eagle, A.G. Mayhew, E. Mazzone, J. Florence, M. James, M. Main, M. Ash, K. Klingels, M. Van den Hauwe, V. Decostre. (SP9) - Development of an upper limb functional scale in dystrophinopathies
Elsevier Award for best oral or poster presentation (4 awards)
Jordan Boutilier: (DP14) – Mining modifier genes for skeletal muscle actin diseases
Claire Chauveau: (CO5) – Ventricular noncompaction with arthrogyrposis due to TTN compound heterozygosity leading to loss of functional TTN kinase domain
Elizabeth MacDonald: (TO6) - Myostatin inhibitor ActIIB rescues atrophy and protects muscle growth signaling pathways in immobilization but not denervation
Rebecca Terry: (TP4) – Treatment with oral metmorfin improves muscle function in mdx mouse
Najwa Al-Bustani | (GP126) – Strongman syndrome, a new autosomal dominant herculaean painful myopathy |
Marie Elodi Cattin | (GP122) – Heterozygous LmnadelK32 mutant mice showed alterations of the ubiquitin-proteasome system and developed dilated cardiomyopathy |
Sandra Donkervoort | (GP82) – Double trouble diagnostic challenge in DMD patients with an additional hereditary skeletal dysplasia |
Vandana Gupta | (GP3) – Modelling congenital muscular dystrophy in zebrafish |
Ayse Karaduman | (SP16) – EK for DMD and SMA validity and reliability study of Turkish version |
Kirisi Kiiski | (DP13) – Targeted array CGH analysis of the nebulin gene: identification of large deletions causing nemalin myopathy |
Johan Lindqvist | (CP12) – The H40Y alpha actin mutation differently affects limb and respiratory muscle contraction |
Linda Lowes | (SP3) – Diverse walking distances predict functional outcome in DMD |
Alexandra Maerkens | (G57) – Differential proteomic analysis of protein aggregates in desminopathy |
Abath Osario | (CP11) – Centronuclear and myotubular myopathis: clinical, histological and molecular findings in a large series of Brazilian patients |
Jessica Terrill | (TP3) – Treatment with cysteine precursors decreases protein thiol oxidation and improves muscle pathology in the mdx mouse |
Emily Todd | (DP6) – Whole exome sequencing applied to foetal akinesia |
Janneke Van den Bergen | (GP76) – Dystrophin levels do not influence progression in Becker muscular dystrophy patienst with an exon 45-47 deletion |
Lindsay Wallace | (GP110) – The DUX4 promoter is preferentially expressed in FSHD affected tissues |
Nicolas Wein | (TP17) – Alternative translation initiation and amelioration of phenotype in the DMD gene |