…of treatment – improvement of motor function exceeded the investigators’ expectations of mere disease stabilization, justifying treatment beyond childhood and early adolescence. Significant improvements were noted on the 6-Minute-Walk-Test (6MWT)…

…CMS experts to classify the individual CMS types as a foundation for their use in computer-based diagnostic and decision-support systems in which it is important to differentiate individual entities, for…

…consent procedures, formulation of interventions, identification and recruitment of study sample populations, feasibility of a clinical trial, identification, selection, and specification of endpoints and outcomes in clinical trials and observational…

…This will reduce the time it takes for patients to receive a CMS diagnosis and helps ensure timely access to therapies. Our new study, Clinical and genetic characterisation of a…

…for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2 Relationship between eating and digestive symptoms and respiratory function in advanced…

…functioning, motor axon shortening, and hearing impairment. This model was then employed for therapeutic screening of riboflavin and probenecid, a potential inhibitor of riboflavin excretion via inhibition of organic anion…

…as an additional patient representative in addition to representation from EURORDIS, the European Organisation for Rare Diseases. Membership is free of charge and open to organisations, research groups and individuals…

…muscular dystrophy: A mixed methods study design Identification and characterization of splicing defects by single-molecule real-time sequencing technology (PacBio) Swallowing, chewing, and speaking: Frequently impaired in oculopharyngeal muscular dystrophy Correlation…