WMS Berlin 2014 Prizewinners

    President's Prize for Young Myologist of the Year

    Nicol Voermans Sporadic late onset nemaline myopathy with MGUS: Long term follow-up after melphalan and autologous stem cell transplantation

    President's Prize for Best First-Timer

    Michaela Kreissl Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

    Léa Rose Prize Spinal Muscular Atrophy Award

    Linda Lowes Reliability and validity of the ACTIVE-mini (Ability Captured Through Interactive Video Evaluation-mini) to quantify infant movement

    Duchenne Research Prize

    Maggie Walter Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle

    Elsevier Prizes for best Oral or Poster Presentations (4)

    Yukari Endo Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels

    Patricia Sondergaard AAV gene transfer utilizing homologous overlap vectors mediates functional recovery of dysferlin deficiency

    Laurine Buscara Gene replacement therapy of myotubular myopathy: Restricting expression of MTM1 in skeletal muscle

    Veronique Bolduc Allele-specific silencing of a dominant-negative mutation using siRNA or LNA antisense oligonucleotides alleviates the phenotype of a cellular model of Ullrich congenital muscular dystrophy

    Elsevier Runners-up Subscription Prizes

    Lindsay Alfano Pilot study evaluating motivation on the performance of timed walking in boys with Duchenne muscular dystrophy

    Yves Allenbach Necrotizing auto-immune myopathies: new myopathological aspects

    Macarena Cabrera Adult onset distal and proximal myopathy with complete ophthalmoplegia and bulbar involvement due to de novo mutation in MYH2.

    Ivana Dabaj Cardiac manifestations and gastro-intestinal sequelae in children with LMNA-CMD

    Nathalie Doorenweerd MRI detects Dp140 dystrophin isoform dependent brain changes in boys with DMD

    Danielle Griffin Novel KO mouse provides new insight into LGMD2L pathogenesis

    Julia Hofhuis Membrane and phospolipid binding properties of dysferlin

    Ying Hu Mosaicism for dominant COLVI mutations as a cause for intra-familial phenotypic variability

    Mirjam Larsen SMCHD1 mutations cause FSHD type 2 and act as modifiers of disease severity

    Alexandra Maerkens Proteomic analysis in 72 myofibrillar myopathy (MFM) patients identifies new disease-relevant proteins accumulating in aggregates and reveals subtype-specific proteomic profiles

    Emily Oates Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies

    Eric Pozsgai Beta-sarcoglycan gene transfer leads to functional improvement in a model of LGMD2E

    Jun Tanihata Truncated dystrophin with exon 45-55 deletion induced muscle atrophy and fiber type change through the hyper-nitrosylation of the ryanodine receptor type-1 and constant release of Ca2+ to the cytosol

    Heike Trippe Growth and endocrinological evaluation in spinal muscular atrophies – a single centre study of 43 pediatric patients

    Lindsay Wallace The DUX4 promoter mouse: the next generation