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- Abolins, M., et al.
(författare)
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The ATLAS Data Acquisition and High Level Trigger system
- 2016
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Ingår i: Journal of Instrumentation. - 1748-0221 .- 1748-0221. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- This paper describes the data acquisition and high level trigger system of the ATLAS experiment at the Large Hadron Collider at CERN, as deployed during Run 1. Data flow as well as control, configuration and monitoring aspects are addressed. An overview of the functionality of the system and of its performance is presented and design choices are discussed.
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| 3. |
- Palmer, Elizabeth E., et al.
(författare)
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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
- 2023
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Ingår i: Molecular Psychiatry. - : SPRINGERNATURE. - 1359-4184 .- 1476-5578. ; 28:2, s. 668-697
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Tidskriftsartikel (refereegranskat)abstract
- Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.
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| 5. |
- Goncalves, JPD, et al.
(författare)
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Religiosity as a potential mediator for violence in childhood and adulthood: results from a Brazilian nationally representative survey
- 2022
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 12:6, s. e051225-
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Tidskriftsartikel (refereegranskat)abstract
- Although previous studies have investigated the role of religiosity in violence outcomes, there is a lack of studies including this aspect as a mediator for violence in childhood and adulthood. This study aimed to investigate the relationship between religiosity and violence in childhood, as well as the possible mediating role of religiosity between suffering violence in childhood and suffering and/or perpetrating violence in adulthood.DesignCross-sectional population-based study carried out from November 2011 to March 2012.SettingFace-to-face surveys (at participants’ homes) were performed in a Brazilian nationally representative sample.ParticipantsA total of 3378 adults (aged 19 years and above) were included.Primary and secondary outcomes measuresThe association between suffering violence in childhood and religiosity, and the mediating role of religiosity between childhood and adulthood violence were analysed using logistic regression models.ResultsReligiosity was associated with childhood violence, showing that those who suffered less violence in childhood were more religious in adulthood and considered religion more important in their lives. However, while there was a significant association between suffering violence during childhood and suffering and/or perpetrating violence in adulthood, religiosity did not mediate this relationship.ConclusionsAlthough religious individuals self-reported less violence suffered in childhood, religiosity did not show evidence of being a potential mediator for childhood and adulthood violence (experienced and/or perpetrated). These results could help researchers explore this phenomenon, and aid health professionals and managers when proposing future interventions.
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| 9. |
- Lucchetti, G, et al.
(författare)
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Spirituality or religiosity: is there any difference?
- 2015
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Ingår i: Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999). - : EDITORA SCIENTIFIC. - 1809-452X .- 1516-4446. ; 37:1, s. 83-84
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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