Results 191 to 200 of about 9,708 (244)

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini   +13 more
wiley   +1 more source

Compensatory rearrangement of parvalbumin interneuron voltage‐gated sodium channel subunits in a mouse model of Dravet syndrome

open access: yesEpilepsia, EarlyView.
Abstract Heterozygous loss‐of‐function variants in the gene SCN1A, which encodes the voltage‐gated sodium channel (VGSC) pore‐forming (α) subunit NaV1.1, lead to a spectrum of neurological disease, including Dravet syndrome. NaV1.1 is prominently expressed at the proximal portion of the axon initial segment (AIS) of fast‐spiking γ‐aminobutyric ...
Ania K. Dabrowski   +4 more
wiley   +1 more source

A Multi-sectoral Institutional Action to Boost Integrated Antimicrobial Stewardship to Curtail Antimicrobial Resistance: A World Antimicrobial Resistance Awareness Week (WAAW) Initiative in North India. [PDF]

open access: yesCureus
Panda PK   +17 more
europepmc   +1 more source

An SSI‐Informed Design for Tuned Mass Dampers With Small‐to‐Large Mass Ratios

open access: yesEarthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT Tuned Mass Dampers (TMDs) are used to mitigate structural vibrations induced by seismic or wind excitation, by tuning the device to the system's dominant resonant frequencies. However, the TMD effectiveness can be undermined by soil‐structure interaction, which can lead to elongation of the vibration periods and to combined translational ...
Davide Noè Gorini   +3 more
wiley   +1 more source

A Review of Overcurrent Protection in Smart Grids Under Cyber‐Physical Threats With a Cyber‐Physical Evaluation Framework

open access: yesEnergy Science &Engineering, EarlyView.
By manipulating current and voltage measurements, an assailant can induce unwanted relay action while attempting to avoid detection. Detecting advanced cyber intrusions in power protection environments requires specialised data analysis and anomaly detection methods.
Feras Alasali   +6 more
wiley   +1 more source

How the proposal for a new regulation for new genomic techniques affects the European Union's food system sustainability objectives. [PDF]

open access: yesNPJ Sustain Agric
Kardung M   +11 more
europepmc   +1 more source

Clinical and Molecular Genetic Risk Factors for Severe Familial Hypercholesterolemia. [PDF]

open access: yesJ Lipid Atheroscler
Rho EH   +8 more
europepmc   +1 more source

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