Results 51 to 60 of about 74,493 (264)
Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Portuguese journal of cardiac thoracic and vascular surgery, 2023 Portuguese Journal of Cardiac Thoracic and Vascular Surgery, Vol. 29 No.
openaire +2 more sources
Revue Archéologique du Centre de la France, 2010 The research started as part of a thesis on Roman roads in the Arverne and Vellave territory has recently led to the rediscovery of a milestone, lost in the storerooms of the Crozatier museum at Puy-en-Velay (Haute-Loire) since the end of the 19th ...
Marion Dacko
doaj
Nature CommunicationsThe theophylline riboswitch has been a foundational tool in synthetic biology for three decades, yet its regulatory performance remains constrained by the modest affinity of its native ligand.
Rushikesh M. Khadake +2 more
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Advanced Engineering Materials, EarlyView.Digitalizing electroplating requires both domain knowledge and interoperability. This work introduces PlatOn, a domain ontology for trivalent chromium plating and coating characterization, and a hybrid pipeline that aligns it to a mid‐level reference ontology by combining eight similarity metrics with language model reasoning. Expert‐validated mappings
Janik Harter +10 more
wiley +1 more source
mSystems, 2018 Comprehensive knowledge of host-pathogen interactions is central to understand the life cycle of a pathogen and devise specific therapeutic strategies. Protein-protein interactions (PPIs) are key mediators of host-pathogen interactions. Hepatitis E virus
Chandru Subramani +11 more
doaj +3 more sources
La borne milliaire de Vollore-Ville (Puy-de-Dôme), forme et transformation
Revue Archéologique du Centre de la France, 2013 The Vollore-Ville milestone Vollore City was considered a unique monument which, over an above its function as an indicator of distance from the capital of the Arverni, also signalled the boundary between the provinces of Aquitaine and Lyonnaise.
Jean-Claude Béal
doaj
HERD: Health Environments Research & Design Journal, 2015 All organisms, organizations, products, and markets go through life cycles, transitions, and change. The theory of product and organizational life cycles describes that all products and organizations go through a minimum of four stages (introduction or birth, growth, maturity, and decline) during the life of the organization (Cox, 1967; Internet Center
openaire +2 more sources
Advanced Functional Materials, EarlyView.Molecular rotors are fluorescent molecules that are sensitive to viscosity and temperature variations in the environment. They exhibit a direct correlation between fluorescence and viscosity within Newtonian fluids. However, this correlation becomes less straightforward in complex systems.
Flavia Di Scala +6 more
wiley +1 more source