Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Semantically Expanded Spoken Term Detection
IEEE AccessSpoken term detection (STD) is effectively implemented using fundamental techniques such as automatic speech recognition (ASR) and information retrieval.
Zhanibek Kozhirbayev +1 more
doaj +1 more source
Design and Implementation of Ontology-Based Query Expansion for Information Retrieval [PDF]
, 2007 Fang Wu, Guoshi Wu, Xiangling Fu
openalex +1 more source
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley +1 more source
Multi-field query expansion is effective for biomedical dataset retrieval. [PDF]
Database (Oxford), 2017 Bouadjenek MR, Verspoor K.
europepmc +1 more source
CPIQA: Climate Paper Image Question Answering Dataset for Retrieval-Augmented Generation with Context-based Query Expansion [PDF]
Rudra Mutalik +5 more
openalex +1 more source
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
Knowledge-Aware Query Expansion with Large Language Models for Textual and Relational Retrieval [PDF]
Yu Xia +6 more
openalex +1 more source