Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Mapping Two Decades of Research on Endoscopic Submucosal Dissection in Esophageal Cancer: A Bibliometric and Visual Analysis. [PDF]
Med Sci MonitWang C +5 more
europepmc +1 more source
Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati +10 more
wiley +1 more source
Visual support for safety analysis. [PDF]
, 2012 The safety of embedded systems is becoming more and more important nowadays. Fault Tree Analysis (FTA) is a widely used technique for analyzing the safety of embedded systems. A standardized tree-like structure called a Fault Tree (FT) models the failures of the systems.
openaire +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
A bibliometric and visual analysis of research trends and hotspots in sepsis-related immunosuppression (2005-2025). [PDF]
Front PharmacolBao J, Gao H, Jiang J.
europepmc +1 more source
Message vs. messenger effects on cross-modal matching for spoken phrases
, 2015 A core issue in speech perception and word recognition research is the nature of information perceivers use to identify spoken utterances across indexical variations in their phonetic details, such as talker and accent differences.
Best, C. +10 more
core
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
A bibliometric and visual analysis of colorectal cancer-diabetes comorbidity. [PDF]
Discov OncolLong J, Shi X, Huang Y, Bai Q, Feng K.
europepmc +1 more source
Opening the visual methods toolbox
, 2015 This chapter gives an overview of the different approaches to using visual methods in HRD research, offering a ‘toolbox’ from which HRD researchers might select according to their research needs.
Black, Kate, Warhurst, Russell
core