Results 101 to 110 of about 103,173 (307)
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Discussion forums in a blended learning approach for social studies: the influence of cognitive learning styles on attitudes towards asynchronous collaboration in a South East Asian university [PDF]
, 2008 To keep pace with ubiquitous computing in all aspects of society, universities have invested heavily in off-the-shelf or in-house learning management systems, and teachers are being encouraged to seek ways in which to optimize the role of information and
Doiron, Joseph Auguste Gilles
core
Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig +9 more
wiley +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
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
An exploratory study of Ontario college electrical engineering students’ learning styles [PDF]
, 2017 This exploratory case study sought to determine the learning styles of Ontario college electrical engineering students using the Barsch Learning Style Inventory (VAK) and Kolb 3.1 learning style instruments.
Tracz, Warren
core
The impact of cognitive styles on perceptual distributed multimedia quality
, 2003 This is the post-print version of the Article. The official published version can be accessed from the link below - Copyright @ 2003 John Wiley & Sons, Inc.Multimedia technology has been widely used in web-based instruction, but previous studies have ...
Ghinea, G +3 more
core +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
Learning styles: a review of the english language literature
, 2006 This chapter presents an overview of the diverse conceptualizations of learning styles and of the diversity of ways that have been devised for gathering information about individuals' learning styles. The review is limited to work reported in the English
Bedford, Tas
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie +8 more
wiley +1 more source