Immune checkpoint molecules are potent regulators of immunologic homeostasis that prevent
the development of autoimmunity while maintaining self-tolerance. Inhibitors of immune …

Cancer immunotherapy has transformed the field of oncology and enabled more effective
management of previously refractory neoplasms by activation of the immune response. …

Objective To assess mexiletine's long-term safety and effect on 6-minute walk distance in a
well-defined cohort of patients with myotonic dystrophy type 1 (DM1). Methods We performed …

Objective To develop RNA splicing biomarkers of disease severity and therapeutic response
in myotonic dystrophy type 1 (DM1) and type 2 (DM2). Methods In a discovery cohort, we …

Background: Although myasthenia gravis (MG) is often considered the best-understood
autoimmune disorder and effective treatments have controlled life-threatening complications, the …

Introduction: The long exercise test (LET) is used to assess the diagnosis of periodic
paralysis (PP), but LET methodology and normal “cutoff” values vary. Methods: To determine …

Introduction: The Myotonic Dystrophy Health Index (MDHI) is a disease‐specific patient‐reported
outcome measure. Here, we examine the associations between the MDHI and other …

Since the introduction of the Orphan Drug Act in 1983, designed to promote development of
treatments for rare diseases, at least 378 orphan drugs have been approved. Incentives …

Background Myasthenia gravis is an autoimmune disorder of the neuromuscular junction.
Treatment typically includes symptomatic oral cholinesterase inhibitors, immunosuppression, …

We evaluated voltage‐gated Na + (I Na ) and inward rectifier K + (I Kir ) currents and Na +
conductance (G Na ) in patients with Type 1 hypokalemic (HOPP) and thyrotoxic periodic …