Results 191 to 200 of about 68,422 (267)

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

Research on precision prediction of heavy-duty lathes based on hybrid PINNS neural network. [PDF]

Sci Rep
Wang R, Jing H, Yang M.
europepmc   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

BlinkFusion: modular platform quantifying labeling efficiency and photophysics in regular and super-resolution fluorescence microscopy. [PDF]

Front Bioinform
Salgado A, Naguib N, Wiesner UB, Ávila A.   +3 more
europepmc   +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

Implementation of real-time optimization control to reduce environmental impact in laser diode assisted sustainable leather cutting. [PDF]

Sci Rep
Swaminathan V, Rabik MM, Meligy R, Chekalil I.   +3 more
europepmc   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Sub-6 GHz acoustic filters using laterally-excited bulk acoustic resonator with scattering vias in double-layer electrodes. [PDF]

Microsyst Nanoeng
Wen Z, Liu W, Zeng M, Liu J, Qu Y, Wang R, Liu Y, Cai Y, Sun C.   +8 more
europepmc   +1 more source

Perceived stress and risky driving among emergency medical services personnel: parallel mediation effects of cognitive failures and emotional exhaustion. [PDF]

Front Public Health
Alasqah W, Noureldin A.
europepmc   +1 more source

Modeling and Simulation of the Gasification of <i>Euterpe oleracea</i> Waste: Optimization of Hydrogen Production and Energy Potential through Operability Analysis. [PDF]

ACS Omega
Musial CM, Staudt J, Reichert AV, da Silva EA, Ribeiro C, Lima FV, Borba CE.   +6 more
europepmc   +1 more source