Intraoperative application of FFR pressure wire and FLOW800 imaging as predictors of postoperative cerebral perfusion abnormalities in Moyamoya disease. [PDF]
Li H +5 more
europepmc +1 more source
Associations between respiratory signs and abnormalities reported in thoracic CT scans of cats [PDF]
Aarsvold +28 more
core +2 more sources
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
Cytoskeletal Dynamics and Molecular Motor Dysfunction in Psychiatric Disorders: Insights from Schizophrenia and Autism Spectrum Disorder. [PDF]
Nakamura K +5 more
europepmc +1 more source
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
Diagnostic value of serum biomarkers for identifying computed tomography abnormalities in male miners. [PDF]
Huang Q, Lai L, Diao J, Chen L, Fang B.
europepmc +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities. [PDF]
Fu G, Hu S.
europepmc +1 more source
Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]
Anderson, RH +6 more
core +1 more source

