Results 61 to 70 of about 82,178 (263)
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
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
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source
TOOLS OF INTENSIVE ECONOMIC GROWTH ON THE BASIS OF BENCHMARKING: FOREIGN AND RUSSIAN EXPERIENCE
Purpose: the main purpose of this article is to explore the possibility of adapting the foreign experience of using benchmarking tools to form promising areas of economic growth, as well as developing a tools for intensive economic growth in Russia and ...
S. V. Ignatyev
doaj +1 more source
Introduction. The strategy for the development of international education ERASMUS 20.30 stimulates the study of how intellectual integration programmes are introduced into the system of further education of universities around the world.
Irene Sibgatullina-Denis +3 more
doaj +1 more source
Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models
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
System solution of evaluation of the brand management’s efficiency in the competitive environment: a methodology of benchmarking [PDF]
The aim of the article. The article is based on generalization of the results of leading scientists in the brand management sphere. It is proved that using of benchmarking to assess the brand management effectiveness is the most appropriate evaluation ...
Kendiukhov Oleksandr Volodymyrovych
doaj
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
Benchmarking cryo-EM Single Particle Analysis Workflow
Cryo electron microscopy facilities running multiple instruments and serving users with varying skill levels need a robust and reliable method for benchmarking both the hardware and software components of their single particle analysis workflow.
Laura Y. Kim +9 more
doaj +1 more source
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
Objective We developed a novel electronic health record sidecar application to visualize key rheumatoid arthritis (RA) outcomes, including disease activity, physical function, and pain, via a patient‐facing graphical interface designed for use during outpatient visits (“RA PRO dashboard”).
Gabriela Schmajuk +16 more
wiley +1 more source

