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zadetkov: 19
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  • Excitatory/inhibitory balan... Excitatory/inhibitory balance in epilepsies and neurodevelopmental disorders: Depolarizing γ‐aminobutyric acid as a common mechanism
    van Hugte, Eline J. H.; Schubert, Dirk; Nadif Kasri, Nael Epilepsia (Copenhagen), August 2023, 2023-08-00, 20230801, Letnik: 64, Številka: 8
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    Epilepsy is one of the most common neurological disorders. Although many factors contribute to epileptogenesis, seizure generation is mostly linked to hyperexcitability due to alterations in ...
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  • Cadherin-13 is a critical r... Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks
    Mossink, Britt; van Rhijn, Jon-Ruben; Wang, Shan ... Molecular psychiatry, 01/2022, Letnik: 27, Številka: 1
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    Activity in the healthy brain relies on a concerted interplay of excitation (E) and inhibition (I) via balanced synaptic communication between glutamatergic and GABAergic neurons. A growing number of ...
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  • Early postnatal development... Early postnatal development of pyramidal neurons across layers of the mouse medial prefrontal cortex
    Kroon, Tim; van Hugte, Eline; van Linge, Lola ... Scientific reports, 03/2019, Letnik: 9, Številka: 1
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    Mammalian neocortex is a highly layered structure. Each layer is populated by distinct subtypes of principal cells that are born at different times during development. While the differences between ...
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  • Compromised transcription-m... Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment
    Bhattacharjee, Rudrarup; Jolly, Lachlan A; Corbett, Mark A ... Nature communications, 02/2024, Letnik: 15, Številka: 1
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    We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with ...
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  • Human neuronal networks on ... Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro
    Mossink, Britt; Verboven, Anouk H.A.; van Hugte, Eline J.H. ... Stem cell reports, 09/2021, Letnik: 16, Številka: 9
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    Micro-electrode arrays (MEAs) are increasingly used to characterize neuronal network activity of human induced pluripotent stem cell (hiPSC)-derived neurons. Despite their gain in popularity, MEA ...
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  • m.3243A > G-Induced Mitocho... m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity
    Klein Gunnewiek, Teun M.; Van Hugte, Eline J.H.; Frega, Monica ... Cell reports (Cambridge), 04/2020, Letnik: 31, Številka: 3
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    Epilepsy, intellectual and cortical sensory deficits, and psychiatric manifestations are the most frequent manifestations of mitochondrial diseases. How mitochondrial dysfunction affects neural ...
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  • SCN1A-deficient excitatory ... SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes
    van Hugte, Eline J H; Lewerissa, Elly I; Wu, Ka Man ... Brain (London, England : 1878), 12/2023, Letnik: 146, Številka: 12
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    Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioural problems and developmental delay. Eighty per cent of patients with Dravet syndrome have a ...
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  • NIPT-based screening for Do... NIPT-based screening for Down syndrome and beyond: what do pregnant women think?
    van Schendel, Rachèl V.; Dondorp, Wybo J.; Timmermans, Danielle R. M. ... Prenatal diagnosis, 06/2015, Letnik: 35, Številka: 6
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    ObjectiveThe aim of the study is to study pregnant women's views on noninvasive prenatal testing (NIPT) for Down syndrome and the potential to test for a broader range of conditions. MethodsAn online ...
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  • ANK2 loss-of-function varia... ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
    Teunissen, Maria W A; Lewerissa, Elly; van Hugte, Eline J H ... Human molecular genetics, 07/2023, Letnik: 32, Številka: 14
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    Abstract Purpose To characterize a novel neurodevelopmental syndrome due to loss-of-function (LoF) variants in Ankyrin 2 (ANK2), and to explore the effects on neuronal network dynamics and ...
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zadetkov: 19

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