Results 51 to 60 of about 30,962 (231)
Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann–Pick Type C
Tremor and Other Hyperkinetic Movements, 2018 Background: Adult-onset Niemann–Pick Type C is a rare neurogenetic lysosomal disorder, whose diagnosis is often delayed and missed because of its heterogeneous clinical presentations and rarity as well as the lack of awareness of characteristic eye ...
Deepak K. Gupta +3 more
doaj +1 more source
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia
Nature Communications, 2021 Niemann-Pick type C disease is a rare childhood neurodegenerative disorder predominantly caused by mutations in NPC1, resulting in abnormal late endosomal and lysosomal defects.
Alessio Colombo +15 more
doaj +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Explaining Episodes of High Inflation: Demand‐ and Supply‐Side Drivers in Times of Uncertainty
International Journal of Finance &Economics, EarlyView.ABSTRACT In this paper, we investigate the extent to which uncertainty anticipates episodes of high inflation in 30 economies worldwide. Our analysis accounts for several factors, including inflation expectations, real global economic activity, and supply chain disruptions.
Maria‐Eleni K. Agoraki +2 more
wiley +1 more source
Alterations of intestinal lipoprotein metabolism in diabetes mellitus and metabolic syndrome [PDF]
, 2015 Diabetes and metabolic syndrome are associated with abnormal postprandial lipoprotein metabolism, with a significant delay in the clearance of many lipid parameters, including triglycerides and chylomicrons.
ARCA, Marcello
core +1 more source
Movement Disorders, EarlyView.Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen +27 more
wiley +1 more source
Cholesterol in Niemann–Pick Type C disease [PDF]
, 2010 Niemann-Pick Type C (NPC) disease is associated with accumulation of cholesterol and other lipids in late endosomes/lysosomes in virtually every organ; however, neurodegeneration represents the fatal cause for the disease. Genetic analysis has identified loss-of-function mutations in NPC1 and NPC2 genes as the molecular triggers for the disease ...
Xiaoning, Bi, Guanghong, Liao
openaire +2 more sources
Risk Prediction for Niemann-Pick Disease
Pediatric Neurology Briefs, 2012 A retrospective chart review of 216 patients with Niemann-Pick disease type C (NP-C) was conducted in 5 centers in Europe including University of Amsterdam and 2 in Australia.
J Gordon Millichap
doaj +1 more source
Niemann Pick disease: a rare lysosomal storage disease
Bangabandhu Sheikh Mujib Medical University Journal, 2023 Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other ...
Gopen Kumar Kundu +8 more
doaj +1 more source
Strategies for Assessing Post‐Wildfire Geomorphic Resilience in Semiarid Rivers
River Research and Applications, EarlyView.ABSTRACT We review and summarize diverse components of a catchment that can be monitored after wildfire to assess the geomorphic resilience of the river corridor in semiarid regions. We distinguish upland portions of river catchments from river corridors.
Ellen Wohl +8 more
wiley +1 more source