Results 71 to 80 of about 190,345 (285)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo   +7 more
wiley   +1 more source

Clinical validation of a patient‐friendly saliva microsampling approach to monitor perampanel levels in people with epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Perampanel (PER) is a third‐generation antiseizure medication (ASM) with a well‐established concentration–effect relationship. Saliva represents a non‐invasive alternative to plasma for therapeutic drug monitoring (TDM) of PER, as it reflects the free plasma fraction.
Valentina Franco   +14 more
wiley   +1 more source

New life to Italian university anatomical collections: desire to give value and open museological issues. Cases compared [PDF]

open access: yes, 2019
The anatomical museums are one of the most difficult categories of museums to deal with because the issues addressed and the stored materials are complex to communicate and often not suitable for all audiences. The history of medicine teaches us that the
Ballestriero, Roberta   +3 more
core  

ILAE dietary treatments task force special report: Maternal ketogenic diet exposure in epilepsy pregnancy registries—A call to action

open access: yesEpilepsia Open, EarlyView.
Abstract Ketogenic dietary therapies (KDTs) are increasingly used worldwide as a non‐pharmacological treatment for epilepsy, including among people of childbearing potential. In many cases, KDTs allow for the reduction of antiseizure medications (ASMs) and lower drug exposure during pregnancy.
Magnhild Kverneland   +7 more
wiley   +1 more source

Intervista a Luisa Sternfeld Pavia

open access: yesGiornale di Clinica Nefrologia e Dialisi, 2018
non ...
Luisa Sternfeld Pavia
doaj   +1 more source

The educational system of the University of Malta : Italian influence and pedagogic projects [PDF]

open access: yes, 1992
The study of the origins and development of Universities is important because it shows how these Medieval institutions to a large extent shaped and organized a new culture. The history and traditions of universities, their very creation, but, most of all
Morelli, Maria Paola
core  

Earthquake and Tsunami NaTech Risk Assessment for Oil Storage Facilities

open access: yesEarthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT Interaction of natural and technological hazards (NaTech) events, such as tsunamis and earthquakes, can affect industrial facilities such as those featuring anchored atmospheric storage tanks. Consequences of natural events on this kind of installation may include the release of hazardous substances, which in turn can lead to industrial ...
Georgios Baltzopoulos   +6 more
wiley   +1 more source

SUL VENTO PREVALENTE A PAVIA

open access: yesAnnals of Geophysics, 1952
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G. ALIVERTI, E. AVICO
doaj   +1 more source

The NN-final-state-interaction in two-nucleon-knockout reactions

open access: yes, 2003
The influence of the mutual interaction between the two outgoing nucleons (NN-FSI) in electro- and photoinduced two-nucleon knockout from $^{16}O$ has been investigated perturbatively.
Boffi, S.   +3 more
core  

Seismic Meta‐Fragility Functions

open access: yesEarthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT Fragility functions make for one of the three key components of probabilistic seismic risk analysis, along with hazard and consequence and/or exposure models. They are, in principle, construction‐specific; however, risk analysis is more often performed on a larger (e.g., regional) scale. In this case, so‐called typological fragility curves are
Iunio Iervolino, Georgios Baltzopoulos
wiley   +1 more source

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