Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig +9 more
wiley +1 more source
Thyroid dysfunction and Research Domain Criteria framework-based depression phenotypes: Insights from a historical longitudinal cohort. [PDF]
Kumar R +5 more
europepmc +1 more source
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller +14 more
wiley +1 more source
Cross-sectional observational study evaluating social brain health in HIV using a research domain criteria-based approach: a protocol. [PDF]
Vance DE +5 more
europepmc +1 more source
Pediatric assessment of Research Domain Criteria positive and negative valence systems: Partial genetic mediation of links to problem behaviors. [PDF]
Moore MN +3 more
europepmc +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
The Global Award for Entreprenurship Research [PDF]
The International Award for Entrepreneurship and Small Business Research was instituted in 1996, and it is now firmly established as the leading Prize for outstanding research contributions in the area.
Henrekson, Magnus, Lindström, Anders
core
Advancing Research on Suicide and Mental Health in Autistic Adults Through a Research Domain Criteria (RDoC)-Inspired Framework. [PDF]
Mazefsky CA +10 more
europepmc +1 more source
Experience-driven plasticity and the emergence of psychopathology: A mechanistic framework integrating development and the environment into the Research Domain Criteria (RDoC) model. [PDF]
McLaughlin KA, Gabard-Durnam L.
europepmc +1 more source

