Bi-Allelic NOTCH3 Variants May Cause Early-Onset Vascular Leukoencephalopathy and More: RDCRN Research Roundup Dakota Campbell Tue, 05/03/2022 - 11:10
Scientists using microscopes in the laboratory

New research: Bi-allelic NOTCH3 variants may cause early-onset vascular leukoencephalopathy; Review discusses sphingolipids in kidney diseases; Chest x-rays alone may not detect organ laterality defects in primary ciliary dyskinesia 

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