Results 201 to 210 of about 299,575 (258)

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

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Design cognition for conceptual design

, 2010
openaire   +2 more sources

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Conceptual design of biosensors

2015 6th International Conference on Information, Intelligence, Systems and Applications (IISA), 2015
Design of biosensors refers to the field of interdisciplinary research, therefore, it is necessary to develop a unified systems approach that is invariant to the physical nature of the used phenomena and processes to create an automated system for conceptual design of such elements.
Irina Petrova 0002, Viktoriya Zaripova, Yuliya Lezhnina, Irina Mitchenko, Vitaliy Sokolskiy   +4 more
openaire   +1 more source

Design Research as Conceptual Designing: The Manhattan Design Concept

Interacting with Computers, 2015
The term ‘conceptual designing’ refers to an activity that various practitioners already undertake, but for which we lack a clear definition. This article provides that definition and uses an example of a design concept called ‘Manhattan’ to present how exactly this type of process happens.
Jacucci, Giulio, Sellen, Abigail, Harper, Richard, Ylirisku, Salu   +4 more
openaire   +4 more sources

Conceptual Modeling for Design Formulation

Engineering with Computers, 2001
zbMATH Open Web Interface contents unavailable due to conflicting licenses.
Y.-C. Shen, Piero P. Bonissone, L. J. Feeser   +2 more
openaire   +1 more source

A conceptual model for design management

Computer-Aided Design, 1996
Abstract Design management is a very important topic for every state-of-the-art cad / cae environment. By definition, the concept of design management addresses a set of functions which build, maintain, display, manage and enforce relationships among the data and among the design tools that are involved in a project.
ZANELLA, Marina, GUBIAN, Paolo
openaire   +2 more sources

Design Ideator: A Conceptual Design Toolbox

Journal of Computing and Information Science in Engineering, 2019
Computer tools for embodiment and detailed engineering design (computer-aided design (CAD)) evolved rapidly in the past 35 years and are now pervasive throughout the industry. But todays commercial CAD is geometry-centric, not appropriate for early stages of design when detailed geometry and dimensions are not known.
S. Narsale, Y. Chen, M. Mohan, Jami J. Shah   +3 more
openaire   +1 more source