Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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 +11 more
wiley +1 more source
Trade-offs and synergies when balancing economic growth and globalization for sustainable development goals achievement. [PDF]
Fertő I, Harangozó G.
europepmc +1 more source
Sector-Coupled Pypsa-Earth, a Global Open-Source Multi-Energy System Model
Hazem Abdel-Khalek +5 more
openalex +1 more source
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
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 +7 more
wiley +1 more source
New Allergens Approved by the WHO/IUIS Allergen Nomenclature Sub-Committee in 2021-2024 and Their Significance for Future Diagnostics, Regulation, and Research. An EAACI Task Force Report. [PDF]
Radauer C +12 more
europepmc +1 more source
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Retraction notice to "Financial globalization and economic growth amid geopolitical risk: A study on China-Russia far East federal district" [Heliyon 10 (2024) e31098]. [PDF]
Wang Z, Sibt-E-Ali M.
europepmc +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
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 +11 more
wiley +1 more source
A globalizációs paradoxon : Dani Rodrik: A globalizáció paradoxona. Demokrácia és a világgazdaság jövője. Corvina Kiadó. Budapest. 2014. ISBN: 978 963 13 6181 0. Eredeti cím: The Globalization Paradox. Democracy and the Future of the World Economy [PDF]
Nagy Balázs
openalex

