Results 231 to 240 of about 60,764 (306)

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

Assessment of Biophilic Design in Educational Corridors and Stairwells Using fNIRS and GSR with Generative AI Stimuli. [PDF]

Sensors (Basel)
Kim JY, Park SJ.
europepmc   +1 more source

IDENTIFICATION OF REALIZATION DIRECTION OF MARKETING STRATEGY OF BALNEOLOGICAL RESORTS DEVELOPMENT [PDF]

, 2013
Dobush, Yu.
core  

Greenery and Biodiversity Charter

, 2021
Parcs i Jardins de Barcelona, Institut Municipal, Gerència de Medi Ambient i Serveis Urbans, Gerència de l'Arquitecte/a en Cap, Gerència d'Àrea d'Ecologia Urbana, Barcelona Regional Agència de Desenvolupament Urbà, S.A., Montlleó, Marc, Spanou, Ioanna, Parés, Margarida, Rull, Coloma   +8 more
openaire   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
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, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Assessing green walls' effects on outdoor human thermal exposure in temperate climate cities. [PDF]

Sci Rep
Lehnert M, Kremser J, Janků Z, Květoňová V, Geletič J.   +4 more
europepmc   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Editorial: Greening urban spaces and human health, volume II. [PDF]

Front Public Health
Akpınar A, Li Y, Li D.
europepmc   +1 more source

Drivers and mitigation of nocturnal heat Island propagation in Changsha music cultural districts. [PDF]

Sci Rep
Xie S, Long T, Huang M.
europepmc   +1 more source

Assessment of Seismic Performance and Structural Health Monitoring of a Retrofitted Reinforced Concrete Structure with Polyurethane-Based Interventions and Vertical Greenery Systems. [PDF]

Polymers (Basel)
Rousakis T, Vanian V, Lappa M, Zapris AG, Xynopoulos IP, Voutetaki ME, Kellis S, Sapidis GM, Naoum MC, Papadopoulos NA, Kytinou VK, Karabini M, Thomoglou A, Chalioris CE.   +13 more
europepmc   +1 more source