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