2020 Abstract Search
A biomarker of DUX4 activity to evaluate losmapimod treatment effect in FSHD Phase 2 trials
30Objective: To identify a panel of stable DUX4-regulated gene transcripts expressed in affected…
A Case of Dermatomyositis associated with Antibodies against SUMO Activating Enzyme (SAE)
16Background:
Myositis-specific autoantibodies are increasingly used in the classification…
A knockin mouse allele of Sptlc1-C133W, a model of hereditary autonomic and sensory neuropathy…
210Hereditary autonomic and sensory neuropathy (HSAN1) is caused by dominant mutations in serine…
A mouse model of limb-girdle muscular dystrophy (LGMDR5): Bridging quantitative proteomics to…
99Limb-girdle muscular dystrophy (LGMD) is a genetic disorder characterized by weakness of…
A Phase 2 Study to Evaluate the Efficacy and Safety of SRK-015 in Patients with Later-Onset…
42SRK-015 is a fully human anti-proMyostatin monoclonal antibody that’s being developed and…
A Platform Trial for Duchenne Muscular Dystrophy (DMD): An Innovative, Patient Centric Trial to…
37Background: Duchenne muscular dystrophy has a deep drug development pipeline, with increasing…
A slowly progressive motor neuron phenotype with a SOD1 variant
211Background: Motor neuron disease can be a slowly progressive hereditary disease, possibly…
A Tale of Two Therapies: One or Both in SMA? The University of Rochester Experience
136Objective: To identify the medical and family decision making process in deciding on treatment…
A unique case of severe out of frame dystrophin mutation converted to a milder in frame…
91We report a unique case of a predicted out of frame deletion in dystrophin converted to an in…