2020 Abstract Search

A biomarker of DUX4 activity to evaluate losmapimod treatment effect in FSHD Phase 2 trials

30

Objective: 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)

16

Background:
Myositis-specific autoantibodies are increasingly used in the classification…

A knockin mouse allele of Sptlc1-C133W, a model of hereditary autonomic and sensory neuropathy type 1 (…

210

Hereditary 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…

99

Limb-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 Spinal…

42

SRK-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 Broaden…

37

Background: Duchenne muscular dystrophy has a deep drug development pipeline, with increasing…

A slowly progressive motor neuron phenotype with a SOD1 variant

211

Background: 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

136

Objective: 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 phenotype due to…

91

We report a unique case of a predicted out of frame deletion in dystrophin converted to an in…