Results 121 to 130 of about 3,378,209 (280)

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

A Close Examination of Jo Boaler's Railside Report [PDF]

Nonpartisan Education Review, 2012
Jo Boaler, an Associate Professor at the Stanford School of Education has just published an already well known study of three high schools that she called Hillside, Greendale, and Railside.
Paul Clopton, Wayne Bishop, R. James Milgram   +2 more
doaj  

Careers 2020: options for future careers work in English schools. [PDF]

, 2012
Careers work in English schools has endured much turbulence recently. The government has now established a statutory duty on schools to secure provision, placing commissioning of careers advice and guidance in the hands of schools rather than local ...
Coiffait, Louis, Hooley, Tristram, Marriott, John, Watts, A. G.   +3 more
core   +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

Low Incidence of Relapses After Vaccination in Anti‐Aquaporin‐4 Antibody‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Patients with neuromyelitis optica spectrum disorder (NMOSD) may experience increased signs and symptoms of their underlying disease when vaccinated against meningococcal disease before receiving complement component 5 inhibitor therapies. This retrospective analysis indicated an overall low relapse incidence (mean [range], 3.3% [0.7%–10.6 ...
Sean J. Pittock, Jin Nakahara, Becky Parks, Kerstin Allen, Sami Fam   +4 more
wiley   +1 more source

Nature-based tourism in the Algarve: a fact or a myth? [PDF]

, 2016
The Algarve is a mature destination in the south of Portugal and is mainly well-known for its offerings of sun and sea. In addition to strong seasonal changes, the region also faces strong competition from other nearby destinations, which has affected ...
Guerreiro, Manuela, Mendes, Júlio, Pinto, Patrícia   +2 more
core   +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

Adopting Artificial Intelligence: Cross-Sector Analysis of AI Adoption Risks

Journal of Cybersecurity Education, Research & Practice
Artificial intelligence (AI) is rapidly being adopted across public and private sectors. This offers significant gains in efficiency, decision making, and access to information.
Brandon Saari, Yona Berger, Yanett Munoz, Alex Agnick, Paul Wagner, Robert J Honomichl   +5 more
doaj   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Beyond Cognitive Load Theory: Why Learning Needs More than Memory Management

Brain Sciences
Background: The role of cognitive load theory (CLT) in understanding effective pedagogy has received increased attention in the fields of education and psychology in recent years.
Andrew Sortwell, Evgenia Gkintoni, Jesús Díaz-García, Peter Ellerton, Ricardo Ferraz, Gregory Hine   +5 more
doaj   +1 more source