Results 51 to 60 of about 216 (178)

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, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Digitizing UK analogue magnetogram records from large geomagnetic storms of the past two centuries

Geoscience Data Journal, 2023
Continuous geomagnetic records of the strength and direction of the Earth's field at the surface extend back to the 1840s. Over the past two centuries, eight observatories have existed in the United Kingdom, which measured the daily field variations ...
Ciaran D. Beggan, Eliot Eaton, Eleanor Maume, Ellen Clarke, John Williamson, Thomas Humphries   +5 more
doaj   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
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, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Experimental Evaluation of 100Cr6 Steel Microindented Surfaces Under Lubricated Nonconformal Point Contacts

Advanced Engineering Materials, EarlyView.
The tribological behavior of 100Cr6 steel spheres textured via Vickers microindentation is evaluated under lubricated sliding by varying both dimple size and density. Fine and dense textures significantly reduce friction across all lubrication regimes, while large dimples increase it.
Farideh Davoodi, Pasquale Guglielmi, Gianfranco Palumbo, Giuseppe Carbone   +3 more
wiley   +1 more source

Carboxylic‐Acid Functionalized Multiwalled Carbon Nanotube‐Alkane‐Based Resistive Temperature Sensor for Cold Chain Applications

Advanced Engineering Materials, EarlyView.
This study presents a reversible temperature sensor with high switching ratio, ∼103. The device is fabricated using PET‐ITO and carbon nanotube dispersions in alkane. Considering its application in cold chain logistics, a proof‐of‐concept with LED is showcased. Thus, a temperature drop below the threshold temperature (crystallization temperature of the
Sunil Kumar Behera, Philippe Marrec, A. Jorge Parola, Madalena Dionísio, Hugo Águas, Andreia F. M. Santos, Hamed Pourkheirollah, Donald Lupo, César A. T. Laia   +8 more
wiley   +1 more source

NFDI MatWerk Ontology (MWO): A BFO‐Compliant Ontology for Research Data Management in Materials Science and Engineering

Advanced Engineering Materials, EarlyView.
This article presents the NFDI‐MatWerk Ontology (MWO), a Basic Formal Ontology‐based framework for interoperable research data management in materials science and engineering (MSE). Covering consortium structures, research data management resources, services, and instruments, MWO enables semantic integration, Findable, Accessible, Interoperable, and ...
Hossein Beygi Nasrabadi, Ebrahim Norouzi, Kostiantyn Hubaiev, Jörg Waitelonis, Harald Sack   +4 more
wiley   +1 more source

Capacitive digital-to-analogue converters with least significant bit down in differential successive approximation register ADCs

The Journal of Engineering, 2014
This Letter proposes a least significant bit-down switching scheme in the capacitive digital-to-analogue converters (CDACs) of successive approximation register analog-to-digital converter (ADC).
Lei Sun, Kong-Pang Pun, Wai-Tung Ng
doaj   +1 more source