Results 221 to 230 of about 13,192,787 (299)

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

Navigating dual pressures: The impact of environmental policies and market demand risks on the sustainable development of green building materials - A case study of the green cement industry. [PDF]

Heliyon
Guo W.
europepmc   +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

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

Investigation of natural radionuclides and radiation shielding potential of some commonly used building materials in Northwestern Nigeria. [PDF]

Sci Rep
Garba NN, Aliyu AS, Rabiu N, Kankara UM, Vatsa AM, Ismaila A, Musa J, Onuh E.   +7 more
europepmc   +1 more source

Natural Radioactivity in Raw Building Materials for Underground Parking Lots and Assessment of Radiological Health Risk for the Population. [PDF]

Int J Environ Res Public Health
Caridi F, Paladini G, Mottese AF, Praticò FG, Faggio G, Messina G, Belvedere A, Marguccio S, D'Agostino M, Majolino D, Venuti V.   +10 more
europepmc   +1 more source

Foreword

Materiales de Construccion
Mª Ángeles Gómez de la Torre, Inés García Lodeiro, Ángel De La Rosa Velasco   +2 more
doaj  

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A conceptual framework for understanding the contribution of building materials in the achievement of Sustainable Development Goals (SDGs)

Sustainable Cities and Society, 2020
The UN 17 Sustainable Development Goals (SDGs) and the 169 targets have been considered in multidisciplinary approaches worldwide. Whereas, several environmental, economic and social development concerns have been covered by the UN 2030 Agenda.
Takafumi Noguchi
exaly   +2 more sources

Building materials

Basics Masonry Construction, 2021
At a time of unprecedented levels of change in the production of building materials and their deployment in construction, better theoretical and historical tools are needed to understand these new developments and how they are altering the practices and concepts of architecture.
Softwood Volatility
semanticscholar   +3 more sources