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
Beyond averaging: A transformer approach to decoding event related brain potentials
NeuroImageThe objective of this study is to assess the potential of a transformer-based deep learning approach applied to event-related brain potentials (ERPs) derived from electroencephalographic (EEG) data. Traditional methods involve averaging the EEG signal of
Philipp Zelger +6 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein +7 more
wiley +1 more source
Student Learning of Perceptual Skills Related to Differentiating Motor Speech Disorders
, 2020 Johanna Boult, Jessica Brownell
openalex +2 more sources
Sensorimotor adaptation to auditory perturbation of speech is facilitated by noninvasive brain stimulation [PDF]
, 2018 Repeated exposure to disparity between the motor plan and auditory feedback during speech production results in a proportionate change in the motor system’s response called auditory-motor adaptation.
Chartrove, Julia +6 more
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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
Association of Corticospinal Tract Asymmetry With Ambulatory Ability After Intracerebral Hemorrhage
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Ambulatory ability after intracerebral hemorrhage (ICH) is important to patients. We tested whether asymmetry between ipsi‐ and contra‐lesional corticospinal tracts (CSTs) assessed by diffusion tensor imaging (DTI) is associated with post‐ICH ambulation.
Yasmin N. Aziz +25 more
wiley +1 more source
Correspondence on “Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies” by Fountain et al. [PDF]
, 2020 Anna Paola Capra +4 more
openalex +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
Acceptance with joy: Writing as a means of embodying compassion [PDF]
, 2014 This article reports on research using writing workshops conducted with three women who distanced themselves from problematic relationships with their bodies that were induced by eating disorders.
Kotzé, Elmarie, Scott, Bridget
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