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
Design and research of bridge collision avoidance system based on camera calibration technology and motion detection. [PDF]
Wang X, Wang S, Wei Z, Ren R, Huang J.
europepmc +1 more source
Motion Detection and Correction for Frame-Based Stereotactic Localization. [PDF]
Sedrak M +11 more
europepmc +1 more source
Clinical Validation of Plasma p‐217tau in Neurological Diseases
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi +13 more
wiley +1 more source
Design of a PEBA-Silicone Composite Magneto-Sensitive Airbag Sensor for Simultaneous Contact Force and Motion Detection. [PDF]
Zhao Z +6 more
europepmc +1 more source
Sensor Fusion Approach for Multiple Human Motion Detection for Indoor Surveillance Use-Case. [PDF]
Abbasi A +4 more
europepmc +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Motion detection or time-lapse? A comparison of camera trap triggers for monitoring breeding taiga bean geese (Anser fabalis fabalis). [PDF]
Nykänen M +3 more
europepmc +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
Respiratory Rate Sensing for a Non-Stationary Human Assisted by Motion Detection. [PDF]
Hsu HC, Chen WH, Lin YW, Huang YF.
europepmc +1 more source

