Results 31 to 40 of about 235,104 (268)
Wilson's disease (WD) is an autosomal recessive disorder with a genetic basis. The predominant non-motor symptom of WD is cognitive dysfunction, although the specific genetic regulatory mechanism remains unclear.
Dan Wang +6 more
doaj +1 more source
Ammonia, infection and inflammation in hepatic encephalopathy. [PDF]
For over a century, we have known that ammonia is important in the pathogenesis of hepatic encephalopathy. Studies in patients with acute liver failure have shown rapid progression to severe encephalopathy in those patients with evidence of a systemic ...
Shawcross, D.L. +1 more
core
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Depression is a common mental disorder that presents a considerable challenge for public health. The natural product geniposide has neuroprotective effects on depression, but the underlying mechanism behind these effects had remained undefined.
Tianyu Zou +5 more
doaj +1 more source
Nutrition and Hepatic Encephalopathy
This Chapter evaluates the correlation between malnutrition and hepatic encephalopathy in liver ...
MERLI, Manuela +5 more
core +1 more source
No H- and L-type cases in Belgium in cattle diagnosed with bovine spongiform encephalopathy (1999-2008) aging seven years and older [PDF]
Background The bovine spongiform encephalopathy (BSE) epidemic presented homogeneity of the phenotype. This classical BSE (called C-type) was probably due to the contamination of the food chain by a single prion strain.
Caroline Rodeghiero +29 more
core +1 more source
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng +4 more
wiley +1 more source
Recently, there has been a surge of interest in enhancing the differentiation of neural stem cells (NSCs) and supplementing dopamine neurons as a potential treatment for Parkinson’s disease, the second most prevalent neurodegenerative disorder.
Zicong Wu +3 more
doaj +1 more source
The Peripheral Benzodiazepine Receptor and Neurosteroids in Hepatic Encephalopathy
Hepatic encephalopathy (HE) represents one of the most common events in terminal liver failure. Acute HE (fulminant hepatic failure, FHF) presents with the abrupt onset of delirium, seizures, and coma, and has a mortality rate of about 90%. The principal
Norenberg, Michael D +5 more
core +2 more sources
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source

