Objective: Repurposing of Tofacitinib and Ruxolitinib, FDA-approved Janus Kinase Inhibitors, would be both time and cost effective in finding a potential treatment for DMD. Inflammation, […]
Myotonic dystrophy type 1 (DM1) is a hereditary progressive multisystemic neuromuscular disease encompassing a wide variety of pathologies including myotonia, cardiac complications, cataracts, insulin sensitivity […]
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder that occurs in 1 in 3,500 live male births. Mutations in the DMD gene result […]
Background: Spinal Muscular Atrophy (SMA) patients receiving gene therapy have limited surrogate gene markers and associated signaling pathways which may determine therapeutic response. Objective: We […]
Mutations in the gene coding for Fukutin related protein (FKRP) can lead to different diseases, ranging from very severe multi-organ syndromes like Walker Warburg Syndrome […]
Background: Eteplirsen is indicated to treat Duchenne muscular dystrophy (DMD) with genetic mutations amenable to exon 51 skipping. Previous analyses have shown that eteplirsen is […]
Background: Pompe disease is a rare autosomal recessive disorder characterized by progressive loss of muscle and respiratory function due to acid α-glucosidase (GAA) deficiency. The […]
Background: Long-chain fatty acid oxidation disorders (LC-FAOD) are rare, life-threatening, autosomal recessive conditions. Clinical symptoms of LC-FAOD are heterogeneous and primarily affect organs that rely […]
Objective: To report the impact of telemedicine (TM) in the access of our ALS patients seen at our MCC during the COVID 19 pandemic period. […]