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
Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel +5 more
wiley +1 more source
Maintaining the status quo: Constructing institutional citizenship in U.S. higher education policies
JPHEInstitutional policies and plans play a significant role in the daily life of a college or university. In this paper, we explore the ways that policy texts discursively contribute to constructions of institutional citizenship. Using an example drawn from
Rachel Friedensen, Garrett Gowen
doaj +1 more source
Free Speech, Celebrity Status, and Ethical Obligations
, 2022 Chris W. Surprenant
openalex +2 more sources
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
Understanding Free Speech as a Two-Way Right
Political PhilosophyThis paper argues that free speech is a ‘two-way right’. The right to marriage is a typical two-way right: it is not a guarantee that every single person can get married.
Jovy Chan
doaj +2 more sources
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
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
SPEECH, THOUGHT AND WRITING REPRESENTATION MODES IN JANE AUSTENʼS NOVEL SENSE AND SENSIBILITY
Filolog, 2020 Bakhtin’s views (1980:127-130) on the importance of studying speech representation and its interaction with authorial context incited prolific research in various disciplines.
Маја Р. Ковачевић
doaj
M2ASR-KIRGHIZ: A Free Kirghiz Speech Database and Accompanied Baselines [PDF]
, 2023 Ikram Mamtimin +2 more
openalex +1 more source