Results 171 to 180 of about 465,638 (353)

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

open access: yesAnnals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang   +10 more
wiley   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

open access: yesAnnals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse   +16 more
wiley   +1 more source

Hydroxycarboxylic Acid Receptor 2 Mediates β‐hydroxybutyrate's Antiseizure Effect in Mice

open access: yesAnnals of Neurology, EarlyView.
A Objective The ketogenic diet, a high‐fat, low‐carbohydrate regimen, is often used to treat drug‐resistant seizures and is being studied for Alzheimer's disease and other neuropsychiatric disorders. However, its mechanism of action remains unclear. β‐hydroxybutyrate, a primary circulating ketone body produced by the ketogenic diet, may mediate its ...
Soudabeh Naderi   +10 more
wiley   +1 more source

Technological Innovations and Applications of Spatial Transcriptomics in Livestock and Poultry Research

open access: yesAnimal Research and One Health, EarlyView.
The paper is divided into three main sections: a review of the development of spatial transcriptomics technology, its applications in livestock and poultry research, and its future prospects. This article provides an overview of the current state of spatial transcriptomics in animal research, exploring its integration with multiomics technologies as ...
Mingyu Wang   +5 more
wiley   +1 more source

Randomized Trial of Rapid Multiplex Polymerase Chain Reaction-Based Blood Culture Identification and Susceptibility Testing.

open access: yesClinical Infectious Diseases, 2015
R. Banerjee   +8 more
semanticscholar   +1 more source

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