Results 191 to 200 of about 8,020,738 (269)

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Mapping the regulatory landscape for environmental sustainability of medical device practices within the European Union. [PDF]

Eur J Public Health
Zarro M, Ferranti A, Garagozzo G, Fico G, Pecchia L.   +4 more
europepmc   +1 more source

Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report

Epilepsia Open, EarlyView.
Abstract Objective Stiripentol and fenfluramine are approved treatments for Dravet syndrome (DS), but real‐world data comparing their effectiveness and combined use remain limited. Our study aims to explore associations between treatment with stiripentol, fenfluramine, and their combination and clinical outcomes in patients with DS.
Paolo Surdi, Marina Trivisano, Mattia Mercier, Nicola Pietrafusa, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Nicola Specchio   +7 more
wiley   +1 more source

Autophagy at the Crossroads of Protein and RNA Toxicity in Repeat Expansion Cerebellar Ataxias. [PDF]

Cells
Tortoriello S, Rossi S, Della Valle I, D'Ambrosi N, Cozzolino M.   +4 more
europepmc   +1 more source

Seismic Fragility of Gravity and Semi‐Gravity Retaining Walls and Its Impact on the Functionality Loss of Road Infrastructures

Earthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT Retaining walls are key geotechnical components of road infrastructure, whose seismic performance directly affects the resilience of transportation networks. Despite their importance, seismic fragility models for retaining walls available in the literature refer only to specific case studies.
Amendola C., Conti R., de Silva F.
wiley   +1 more source

The aryl hydrocarbon receptor, CIITA and HLA-II: who is watching the watchdog? [PDF]

J Exp Clin Cancer Res
Fruci D, Giacomini P.
europepmc   +1 more source

The Application of the Rome I and Rome II Regulations in the United Kingdom

, 2020
openaire   +1 more source

An Intensity Measure‐Based Methodology for Ground Motion Orientation in Seismic Structural Assessment

Earthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT In current dynamic time history assessment protocols, ground motion recordings are mostly oriented along fixed sensor directions. Consequently, the orientation of the principal resultant of rupture energy, which may control the maximum structural demand, remains undefined, precluding consistent correlation with physically detrimental ...
Santiago Londono‐Lopez, Raffaele Cucuzza, Fabrizio Mollaioli, Giuseppe Carlo Marano, Marco Domaneschi   +4 more
wiley   +1 more source

Effect of Ammonia on <i>Escherichia coli</i> Growth and Aerobic Respiration: The Role of Cytochrome <i>bd</i>-II. [PDF]

Antioxidants (Basel)
Giordano F, Nastasi MR, Borisov VB, Forte E.   +3 more
europepmc   +1 more source

Revolutionizing Healthcare With Paper‐Based Nucleic Acid Testing

Exploration, EarlyView.
This work summarizes strategies to enhance paper‐based devices for nucleic acid testing. Key approaches include optimizing paper platforms, improving nucleic acid amplification, and refining labeling/signaling methods. These advancements aim to boost sensitivity, speed, and usability, making paper‐based diagnostics more effective for point‐of‐care ...
Hong Zhang, Yi Yang, Heng Li, Xiaolin Hu, Hui Xiao, Dou Wang, Sergio Benardini, Wei Gu, Yang Luo   +8 more
wiley   +1 more source