Richard Lemmers: Facioscapulohumeral muscular dystrophy: muscle running out of control (O.19)
Dwi Kemaladewi: Interference of myostatin and TGF-beta signaling by antisense-mediated exon skipping in ALK4/5 receptors (O.13)
Stefania Corti: A model for motor neuron degeneration and treatment of Spinal Muscular Atrophy using human induced pluripotent stem cells (P3.15)
Edgar Gomes: Role of BIN-1/Amphiphysin II and N-Wasp during nuclear positioning in centronuclear myopathies (O.17)
Kristen Perkins: Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weakness ((P3.48)
Gianina Ravenscroft: Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies (O.24)
Giorgio Tasca: Lower limb muscle MRI in a large cohort of FSHD patients (P2.38)
Maisoon Alhamidi |
Fukutin-related protein resides in the Golgi cisternae of human skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction interface (P2.17) |
Roberta Capogrosso |
Toward the identification of druggable pathways involved in disease-related fatigue in Duchenne muscular dystrophy: in vivo and ex vivo studies in dystrophic mdx mice (P4.26) |
Olivier Dorchies |
Tamoxifen, an estrogen receptor modulator, is extremely potent on dystrophic 9mdx5Cv) mice (P4.15) |
Chiara Fiorillo |
Novel mutation of TRPV4 in congenital distal SMA with vocal cord paralysis (P3.2) |
Teresa Genesini |
The effects of psychoanalysis in neuromuscular disorders (P1.60) |
Ana Rita Gonçalves |
Molecular profile of 307 Portuguese patients with dystrophinopathy, including 39 new variants (P1.4) |
Rudy Kley |
Proteomic analysis of protein aggregates in filaminopathy (P5.57) |
Laura McAdam |
Early death following minor trauma in Duchenne muscular dystrophy (P1.7) |
Hannah Radley-Crabb |
A comparison of metabolism and protein synthesis rates in young and adult dystrophic mdx and control C57Bl/10 mice (P1.26) |
Valeria Ricotti |
Benefits and adverse effects of glucocorticoids in boys with Duchenne muscular dystrophy (P4.5) |
Jaakko Sarparanta |
LGMD1D mutations impair the antiaggregation activity of DNAJB6 (P2.26) |
Verena Schoewel |
Mstn/Dysf double knockout mice gain muscle mass but no strength (P2.55) |
Maaike van Putten |
Low dystrophin levels improve life expectancy, phenotype and functional performance in the mdx/utrn-/- (P1.22) |
Luis Vernengo |
Migration of an ancestral dysferlin splicing mutation from the Iberian peninsula to South America (P2.56) |
Eiji Wada |
Effects of dietary phosphate on extensive ectopic calcification in mdx mouse and its muscle function (P4.20) |