Results 201 to 210 of about 486,804 (314)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo   +7 more
wiley   +1 more source

Iron deficiency in heart failure: Epidemiology, diagnostic criteria and treatment modalities

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 723-726, April 2025.
Stephan von Haehling
wiley   +1 more source

Arterial spin labeling performs comparably to 2‐[18F]fluoro‐2‐deoxy‐D‐glucose positron emission tomography for presurgical evaluation in pediatric lesional epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to test whether arterial spin labeling (ASL) performs comparably to 2‐[18F]fluoro‐2‐deoxy‐D‐glucose positron emission tomography (FDG‐PET), the mainstay functional imaging technique, in pediatric lesional epilepsy, while avoiding radiotracer exposure and additional sedation.
Antonio Giulio Gennari   +7 more
wiley   +1 more source

Sociodemographic disparities in Hepatitis C care utilization and testing in the United States. [PDF]

open access: yesCommun Med (Lond)
Buckholz AP   +7 more
europepmc   +1 more source

Congestion, decongestion, renal function and diuretics in (ESC) heart failure

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 730-732, April 2025.
Jan Biegus   +2 more
wiley   +1 more source

Spike detection in the wild: Screening of suspected temporal lobe epilepsy cases using a tailored 2‐channel wearable EEG

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To clinically validate the contribution of a custom‐built EEG wearable device (waEEG) compared to a full 10–20 electrode array ambulatory EEG (aEEG) for screening epilepsy cases in patients with suspected temporal lobe epilepsy (TLE) but negative routine EEGs. Methods Patients (aged 16–91 years) with clinically suspected TLE who were
Daniel Filipe Borges   +4 more
wiley   +1 more source

Rapid recovery after intrathecal dexamethasone in FIRES

open access: yes
Epileptic Disorders, EarlyView.
João Filipe Nico   +8 more
wiley   +1 more source

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