Eduardo Malfatti – A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy
Jean Seto - A gene for speed: the influence of ACTN3 on muscle performance in health and disease
Haiyan Zhou - Generation and rescue of intermediate SMA mice by slow-dose morpholino antisense oligomer
Caroline Le Guiner - Adeno-associated virus vector (AAV) microdystrophin gene therapy prolongs survival and restores muscle function in the canine model of Duchenne muscular dystrophy (DMD)
Belinda Cowling - Reducing dynamin 2 rescues a severe congenital myopathy in mice
Maaike van Putten - Natural history study of mouse models for limb girdle muscular dystrophy, types 2D and 2F
Robert Bryson-Richardson - Investigating the pathobiology of myofibrillar myopathies and potential therapies using zebrafish
Payam Mohassel - Col6A2 null mice are a new mouse model of collagen-VI related dystrophies and relevant to the human disease
A. Reghan Foley - GGPS1 mutations cause a unique childhood-onset muscular dystrophy associated with sensorineural deafness and primary ovarian failure in females
Dimuthu Wasgewatte Wijesinghe - Investigation of the sources of osteopontin required for normal regeneration of injured muscle
Louiza Arouche Delaperche – Effects of auto-antibodies anti-signal recognition particle (SRP) and hydroxymethylglutaryl-CoA reductase (HMGCR) on muscle cells
Rainiero Avila-Polo – Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies
Alison Barnard – Genetic polymorphisms modify intramuscular fat infiltration in Duchenne muscular dystrophy
Raphael Boursereau – New targets to control skeletal muscle inflammation: MicroRNAs regulated by adiponectin
Astrid Emilie Buch - High intensity training in patients with facioscapulohumeral muscular dystrophy
Anna Maria Lara Coenen-Stass – Identification of novel therapy-responsive protein biomarkers for Duchenne muscular dystrophy by aptamer-based serum proteomics
Anni Evilä – Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy
Hernan Gonorazky – Filling in the gap between exome and genome: mRNA analysis as a clinical diagnosis tool
Akihiko Ishiyama - Mutations in iron-sulfur cluster assembly gene IBA57 cause progressive cavitating leukoencephalopathy
Kosuke Kohashi – Early scoliosis surgery may prevent deterioration of respiratory function in Ullrich congenital muscular dystrophy
Jenni Laitila – Functional assessment of nebulin missense variants
Carmen Paradas Lopez – Quantifiable diagnosis of neuromuscular diseases through network analysis
Valeria Ricotti – Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials
Jachinta Rooney - Late-onset mild myopathy with protein aggregates in two transgenic mouse models of FHL1
Sandra Sandaradura – Recessive TNNT3 splice variants are associated with severe nemaline myopathy with distal arthrogryposis
Nozumo Tawara – A single center analysis of the clinicopathological findings of anti-cytosolic 5’-nucleotidase 1a antibody-positive sporadic inclusion body myositis
Mariana Voos – Effects of a program based on home exercise on muscle force and functional independence in patients with amyotrophic lateral sclerosis: A 2-year follow-up study
Nicholas Whitehead - Simvastatin improves physiological function and protects against muscle degeneration in mdx mice: A novel therapeutic approach for Duchenne muscular dystrophy
Michele Yang – Elucidation of the mechanism of disease in DYNC1H1-associated motor neuron disease and potential therapeutic targets
Irina Zaharieva – Recessive loss-of-function SCN4A mutations associated with a novel phenotype of congenital myopathy