Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aimed to investigate the immunological response to influenza vaccination, the incidence and severity of influenza infection, and the side effects of the vaccination in patients with ischemic stroke. Methods This prospective observational study was conducted between 2023 and 2024 at Ramathibodi Hospital.
Achiraya Pakngao +5 more
wiley +1 more source
Review of [Data-gathering in colonial Southeast Asia 1800-1900: Framing the Other] by [F.A. Noor]
, 2021 Colonial and Global ...
Sysling, F.H.
core
WSN data gathering algorithm based on compressive sensing and matrix completion technique
Tongxin xuebao, 2018 The unreliable links and packet losing are ubiquitous in WSN.The performance of data collection algorithm based on compressive sensing is sensitive to packet losing.Firstly,the relationship between packet loss rate and CS-based reconstruction precision ...
Ce ZHANG, Ou LI, Xin TONG, Yanping YANG
doaj
Data Gathering Techniques in WSN: A Cross-Layer View. [PDF]
Sensors (Basel), 2022 Gurewitz O, Shifrin M, Dvir E.
europepmc +1 more source
Aquaporin‐4 in Narcolepsy Type 1: Investigation of Perivascular Fluid Movement in Sleep Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Narcolepsy type 1 (NT1) is caused by the loss of hypocretin‐1 leading to excessive daytime sleepiness and cataplexy. Additionally, disrupted nighttime sleep has become an increasingly recognized feature of NT1. As the glymphatic fluid movement has been linked to sleep architecture, we investigated cerebrospinal fluid (CSF) Aquaporin‐4 (AQP4 ...
Jonas Ranke +5 more
wiley +1 more source
Safe Data Gathering in Physical Spaces
, 2019 Reliable and efficient acquisition of data from physical spaces has widespread applications in industry, policy, defense, and humanitarian work. Unmanned Aerial Vehicles (UAVs) are an excellent choice for data gathering applications, due to their ...
Sankalp Arora (4940191)
core +1 more source
Assessing data gathering of chatbot based symptom checkers - a clinical vignettes study. [PDF]
Int J Med Inform, 2022 Ben-Shabat N +9 more
europepmc +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Observation-based data-gathering method to support the assessment of the use of cultural ecosystem services in urban green spaces. [PDF]
MethodsX, 2023 Valença Pinto L, Inácio M, Pereira P.
europepmc +1 more source