Results 261 to 270 of about 152,307 (344)

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

open access: yesClinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl   +15 more
wiley   +1 more source

The risk of epilepsy after neonatal seizures

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16288 Abstract Aim To estimate the cumulative risk of epilepsy after neonatal seizures and identify subpopulations at increased risk. Method This was a nationwide register‐based cohort study including all children born in Denmark between 1997 and 2018.
Jeanette Tinggaard   +6 more
wiley   +1 more source

Potential Biomarkers of Fatal Hypothermia Revealed by UHPLC-MS Metabolomics in Mice. [PDF]

open access: yesMetabolites
Cao XZ   +10 more
europepmc   +1 more source

A narrative review of metformin in pregnancy: Navigating benefit and uncertainty

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
Abstract Metformin is well‐established as a treatment for type 2 diabetes in non‐pregnant individuals. The low cost, acceptability and broad tolerability of metformin have also made it an attractive option for research into the treatment of other conditions associated with insulin resistance.
Robert P. McEvoy   +3 more
wiley   +1 more source

A peptide-neurotensin conjugate that crosses the blood-brain barrier induces pharmacological hypothermia associated with anticonvulsant, neuroprotective, and anti-inflammatory properties following status epilepticus in mice. [PDF]

open access: yesElife
Ferhat L   +19 more
europepmc   +1 more source

Unique features of seizure‐induced cardiorespiratory failure in SSKcnj16−/− rats: Implications for sudden unexpected death in epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Patients with uncontrolled epilepsy are at high risk for sudden unexpected death in epilepsy (SUDEP), which likely results from a pathological, seizure‐induced disruption of vital physiological systems. The objective of this study was to characterize seizure‐induced physiological dysfunction leading to death in SSKcnj16−/− rats and ...
Melissa Eilbes   +5 more
wiley   +1 more source

Home - About - Disclaimer - Privacy