Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
, 2002 Author: Porter, Andrew P. Title: Elementary monotheism I&2.
Uitti, Roger W.
core +1 more source
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
Reframing Bilingual Acquisition and Theory: An Insider Perspective Through a Translanguaging Lens. [PDF]
Lang Speech Hear Serv Sch, 2023 Garivaldo B, Fabiano-Smith L.
europepmc +1 more source
Functional Connectivity Linked to Cognitive Recovery After Minor Stroke
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri +7 more
wiley +1 more source
Концепции и модели коммуникации в современном гуманитарном знании [PDF]
, 2012 Рассматриваются основные тенденции в определении природы и сущности коммуникации в современном гуманитарном знании. Анализируются ключевые метафоры, используемые в лингвистической литературе для описания коммуникативных процессов.
Колмогорова, Анастасия Владимировна
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Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker +9 more
wiley +1 more source
Making Referents Seen and Heard Across Signed and Spoken Languages: Documenting and Interpreting Cross-Modal Differences in the Use of Enactment. [PDF]
Front Psychol, 2022 Vandenitte S.
europepmc +1 more source
Expert systems and developing expertise: Implications of Artificial Intelligence for Education [PDF]
, 1984 This paper discusses a few issues in AI research with the aim of understanding whether the concepts or the tools of AI can be of use in education (see also Green, 1984).
Bruce, Bertram C.
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick +14 more
wiley +1 more source