Results 131 to 140 of about 312,025 (347)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
IMMUND: an Early Stage Diagnostic and Therapeutic Frame for Neurodegenerative Diseases and Multiple Sclerosis based on Immunological Markers [PDF]
Sagnik Sen +4 more
openalex +1 more source
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
. Background:. Immunoglobulin G4-related disease (IgG4-RD) is a recently recognized immune-mediated disorder that can affect almost any organ in the human body.
Linyi Peng +11 more
doaj +1 more source
Additional file 2: of Gene signature-based mapping of immunological systems and diseases
Hong Liu +4 more
openalex +1 more source
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec +6 more
wiley +1 more source

