Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
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
Cramer-von Mises and Anderson-Darling goodness of fit tests for extreme value distributions with unknown parameters [PDF]
The use of goodness of fit tests based on Cramer-von Mises and Anderson-Darling statistics is discussed, with reference to the composite hypothesis that a sample of observations comes from a distribution, FH, whose parameters are unspecified.
Laio, Francesco, Francesco Laio
core +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi +8 more
wiley +1 more source
The effects of extreme climate events on green technology innovation in manufacturing enterprises
The increasing intensity and frequency of extreme climate events have made improving the adaptability to extreme climate events a strategic imperative for manufacturing companies.
Chengyuan Wang +3 more
doaj +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Complexity measure of extreme events
Complexity is an important metric for appropriate characterization of different classes of irregular signals, observed in the laboratory or in nature. The literature is already rich in the description of such measures using a variety of entropy and disequilibrium measures, separately or in combination.
Dhiman Das +7 more
openaire +3 more sources
The Impact of Extreme Weather Events on Budget Balances and Implications for Fiscal Policy. [PDF]
This paper explores implications of climate change for fiscal policy by assessing the impact of large scale extreme weather events on changes in public budgets.
Eliza M. Lis, Christiane Nickel
core
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
Assessment of Deadly Heat Stress and Extreme Cold Events in the Upper Midwestern United States
Understanding and addressing the implications of extreme temperature-related events are critical under climate change, as they directly impact public health and strain energy infrastructure.
Manas Khan, Rabin Bhattarai, Liang Chen
doaj +1 more source
ABSTRACT Traumatic spinal cord injury (TSCI) caused by sharp‐force penetration is exceptionally rare, and the use of high‐dose methylprednisolone (MP) remains highly controversial, especially beyond the conventional 8‐h treatment window. This case report describes a 30‐year‐old male with acute incomplete TSCI following a knife stab wound to the right ...
Honghong Wang +5 more
wiley +1 more source

