Results 51 to 60 of about 734,076 (198)
Annals of Clinical and Translational Neurology, EarlyView.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
Papeles del CEIC: International Journal on Collective Identity Research, 2010 Este artículo analiza la estrategia metodológica puesta en práctica por parte de un equipo de profesionales de la Sociedad de Ciencias Aranzadi para realizar el trabajo de campo durante tres años (2003-2006), utilizando el vídeo como herramienta, en ...
Sabin Egilior
doaj
O Grotesco – uma análise do vídeo “O Banquete” de Anna Natale
DAPesquisa, 2019 O presente artigo foi escrito para apresentar o projeto de pesquisa homônimo no III Seminário de Iniciação Científica da UDESC. Com o objetivo de estudar o Grotesco como forma de expressão presente em diversas mídias como vídeo, cinema, TV, pintura entre
Amanda Nascimento
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Desarrollo de una prueba de comprensión audiovisual [PDF]
marcoELE. Revista de Didáctica Español Lengua Extranjera, 2016 Este artículo forma parte de una investigación doctoral que estudia el uso de preguntas de comprensión audiovisual integradas en la imagen del vídeo como subtítulos y sincronizadas con los fragmentos de vídeo relevantes. Anteriormente se han publicado un
Casañ Núñez, Juan Carlos
doaj
Área Abierta, 2012 Este trabajo representa una análisis cuantitativo sobre la base de una muestra de doscientas iniciativas audiovisuales que utilizan la World Wide Web como plataforma de difusión. El objetivo principal del estudio consiste en establecer en nuestra muestra
Borja Arjona Martín
doaj +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane +10 more
wiley +1 more source
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source