Results 81 to 90 of about 2,278 (239)

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

Evolution of the emulsification kinetics and rheological properties of oil-in-water emulsions prepared with two different impellers

Grasas y Aceites, 2001
This paper deals with the emulsification kinetics, rheological properties and droplet size distribution of oil-in-water emulsions, stabilised by non-ionic surfactant, using two different impellers, an anchor and a helical ribbon impeller.
M. C. Sánchez, M. Berjano, A. Guerrero, C. Gallegos   +3 more
doaj   +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

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Droplet Size Distributions and Flow Rates of Pulse-Width-Modulated Low-Drift Nozzles

Agrochemicals
Although a pulse-width modulation (PWM) technique controls nozzle flow rate with minimal pressure variation, its effects on droplet size distribution and flow regulation when combined with low-drift nozzle designs are still not well documented. Therefore,
João Paulo Arantes Rodrigues da Cunha, Erdal Ozkan, Hongyoung Jeon   +2 more
doaj   +1 more source

Spectrum and quench-induced dynamics of spin-orbit-coupled quantum droplets

Physical Review A
We investigate the ground state and dynamics of one-dimensional spin-orbit coupled (SOC) quantum droplets within the extended Gross-Pitaevskii approach. As the SOC wavenumber increases, stripe droplet patterns emerge, with a flat-top background, for larger particle numbers.
Sonali Gangwar, Rajamanickam Ravisankar, S. I. Mistakidis, Paulsamy Muruganandam, Pankaj Kumar Mishra   +4 more
openaire   +2 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Wirelessly Powered Electrowetting-on-Dielectric(EWOD) [PDF]

, 2013
Electrowetting-on-dielectric (EWOD) allows us to control wettability of droplets on a solid surface using electrical inputs and has been used in a wide range of applications including microfluidics, optical displays, lenses, and others. To date, however,
BYUN, SANG HYUN
core  

The Influence of the Water Quality on the Droplet Spectrum Produced by Agricultural Nozzles

Agriculture and Agricultural Science Procedia, 2015
Abstract The aim of the studies was to check if the quality of water, which was taken from different sources, to plant protection treatments influences the change of the droplet size generated by an agricultural nozzle. For the study water taken from 3 different sources was used and demineralized water was used as a reference.
Parafiniuk, Stanisław, Milanowski, Marek, Subr, Alaa Kamel   +2 more
openaire   +1 more source

CAR T‐Cell Therapy in Neurology: A Scoping Review of Neuro‐Oncology, Autoimmune Diseases & Neurotoxicity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chimeric antigen receptor (CAR) T‐cell therapy has been investigated in neurological diseases, encompassing both central nervous system malignancies and autoimmune disorders, thereby extending its application beyond hematological cancers.
Omar Alqaisi, Mohammed Dibas, Patricia Tai, Ala Dibas, Osama Souied, Suhair Al‐Ghabeesh   +5 more
wiley   +1 more source