Congenital Absence of MUC5B Defines New Category of Genetic Respiratory Disease and More: RDCRN Research Roundup Dakota Campbell Mon, 04/18/2022 - 15:11
Scientist examining samples in the lab

New research: Congenital absence of MUC5B defines new category of genetic respiratory disease; A roadmap to ALS prevention: Lessons from pre-symptomatic ALS and other neurodegenerative diseases; Close follow-up benefits long-term management of eosinophilic esophagitis

Characterizing Repetitive Behaviors in Phelan-McDermid Syndrome and More: RDCRN Research Roundup Dakota Campbell Tue, 04/12/2022 - 10:45
Scientist examining samples in the lab

New research: Characterizing repetitive behaviors in Phelan-McDermid syndrome; Researchers describe new patients with SLC35C1 congenital disorder of glycosylation; Video captures head posture in cervical dystonia; ALS toolkit harnesses power of the electronic health record