Results 131 to 140 of about 361,982 (343)
Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett +8 more
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.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
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.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
Agricultural situation report of Cyprus and the market and trade policies for fruit/vegetable and olive oil [PDF]
During the last decade the Cypriot agricultural sector has been declining in terms of most indices in the economy, mainly due to the spiraling growth of tourism, as crucial investment outlays were diverted from agriculture to tourism; the most important ...
Kavazis, Andreas, Markou, Marinos
core +1 more source
The functional and the dysfunctional in the comparative method of law: some critical remarks [PDF]
, 2008 This contribution explores the leading principle in the comparative method of law: functionality of comparisons. The principle is defined, conditioned and analysed. In particular, the author wishes to maintain with this article the orthodox approach when
Platsas, Antonios E.
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source
Modification of the existing MRLs for dimethomorph in various commodities
EFSA Journal, 2011 European Food Safety Authority
doaj +1 more source
Texas Fresh Citrus Shipments by Containers 1972-73 [PDF]
Texas, Citrus, Shipments, Containers, Crop Production/Industries, Food Consumption/Nutrition/Food Safety, Productivity Analysis,
Connolly, Chan C. +2 more
core +1 more source
Counting Apples and Oranges With Deep Learning: A Data-Driven Approach
IEEE Robotics and Automation Letters, 2017 Steven W. Chen +7 more
semanticscholar +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source