Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Martina Proietti-Onori"'
Autor:
Linda M.C. Koene, Eva Niggl, Ilse Wallaard, Martina Proietti-Onori, Diana C. Rotaru, Ype Elgersma
Publikováno v:
JCI Insight, Vol 6, Iss 23 (2021)
Tuberous sclerosis complex (TSC), caused by heterozygous mutations in TSC1 or TSC2, frequently results in intractable epilepsy. Here, we made use of an inducible Tsc1-knockout mouse model, allowing us to study electrophysiological and molecular chang
Externí odkaz:
https://doaj.org/article/30631dcebd77448d89413b76dcd65166
Autor:
Michiel M ten Brinke, Shane A Heiney, Xiaolu Wang, Martina Proietti-Onori, Henk-Jan Boele, Jacob Bakermans, Javier F Medina, Zhenyu Gao, Chris I De Zeeuw
Publikováno v:
eLife, Vol 6 (2017)
While research on the cerebellar cortex is crystallizing our understanding of its function in learning behavior, many questions surrounding its downstream targets remain. Here, we evaluate the dynamics of cerebellar interpositus nucleus (IpN) neurons
Externí odkaz:
https://doaj.org/article/da247d9c4eb44e758d76ab74e72e4cc2
Autor:
Vasiliki Giagka, Shinnosuke Kawasaki, Geeske M. van Woerden, Ronald Dekker, Marta Saccher, Martina Proietti Onori
Publikováno v:
Bioelectronic Medicine, Vol 8, Iss 1, Pp 1-10 (2022)
Bioelectronic medicine, 8(1):2
Bioelectronic Medicine
Bioelectronic medicine, 8(1):2
Bioelectronic Medicine
Background Microelectrode arrays (MEA) enable the measurement and stimulation of the electrical activity of cultured cells. The integration of other neuromodulation methods will significantly enhance the application range of MEAs to study their effec
Autor:
Martijn J. Kool, Jeroen Demmers, Enzo Nio, Karel Bezstarosti, Gabriëlle H.S. Buitendijk, Mehrnoush Aghadavoud Jolfaei, Jolet E. van de Bree, Martina Proietti Onori, Geeske M. van Woerden, Minetta Elgersma-Hooisma, Ype Elgersma, Nils Z. Borgesius
Publikováno v:
Journal of Neuroscience, 39(28), 5424-5439. Society for Neuroscience
Ca(2+)/calmodulin-dependent protein kinase II (CAMK2) is a key player in synaptic plasticity and memory formation. Mutations in Camk2a or Camk2b cause intellectual disability in humans, and severe plasticity and learning deficits in mice, indicating
Publikováno v:
Brain Research Bulletin, 171, 209-220. Elsevier Inc.
Neurodevelopmental disorders are a complex and heterogeneous group of neurological disorders characterized by their early-onset and estimated to affect more than 3% of children worldwide. The rapid advancement of sequencing technologies in the past y
Autor:
Carmen B. Schäfer, Zhenyu Gao, Mark Nellist, de Brito van Velze M, van Woerden Gm, Linda M. C. Koene, Martina Proietti Onori, Ype Elgersma
Dominant-active mutations inRas Homolog Enriched in Brain 1(RHEB), such as the recently identified RHEBp.P37L mutation, can cause malformations of cortical development (MCD) with associated epilepsy and intellectual disability through a yet unknown m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be8fbf565f9d47d4cca947158b943be9
https://doi.org/10.1101/2020.07.08.189399
https://doi.org/10.1101/2020.07.08.189399
Autor:
Carmen B. Schäfer, Zhenyu Gao, Mark Nellist, Marcel de Brito van Velze, Martina Proietti Onori, Ype Elgersma, Geeske M. van Woerden, Linda M. C. Koene
Publikováno v:
PLoS Biology
PLoS Biology, 19(5):e3001279. Public Library of Science
PLoS Biology, Vol 19, Iss 5, p e3001279 (2021)
Plos Biology
PLoS Biology, 19(5):e3001279. Public Library of Science
PLoS Biology, Vol 19, Iss 5, p e3001279 (2021)
Plos Biology
Hyperactivation of the mammalian target of rapamycin (mTOR) pathway can cause malformation of cortical development (MCD) with associated epilepsy and intellectual disability (ID) through a yet unknown mechanism. Here, we made use of the recently iden
Autor:
Martina Proietti Onori, Ilse Wallaard, Annabel van Oort, Nathalie H. R. M. Kooijman, Ype Elgersma, Saskia E. van Grondelle, Linda M. C. Koene, Jadwiga Schreiber
Publikováno v:
Annals of Clinical and Translational Neurology, 6(7), 1273-1291. John Wiley & Sons Inc.
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1273-1291 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1273-1291 (2019)
Annals of Clinical and Translational Neurology
Objective An epilepsy mouse model for Tuberous Sclerosis Complex (TSC) was developed and validated to investigate the mechanisms underlying epileptogenesis. Furthermore, the possible antiepileptogenic properties of commonly used antiepileptic drugs (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a284908e7685de6348a0906222d1efad
https://pure.eur.nl/en/publications/47e571a9-4fd8-4c2c-a42a-810fb0a23c37
https://pure.eur.nl/en/publications/47e571a9-4fd8-4c2c-a42a-810fb0a23c37
Autor:
Henk-Jan Boele, Chris I. De Zeeuw, Tom J. H. Ruigrok, Zhanmin Lin, Martina Proietti-Onori, Zhenyu Gao, Michiel M. ten Brinke, Freek E. Hoebeek, Jan-Willem Potters
Publikováno v:
Neuron
Neuron, 89(3), 645-57. Cell Press
Neuron, 89(3), 645-657. Cell Press
Neuron, 89(3), 645-57. Cell Press
Neuron, 89(3), 645-657. Cell Press
Summary Closed-loop circuitries between cortical and subcortical regions can facilitate precision of output patterns, but the role of such networks in the cerebellum remains to be elucidated. Here, we characterize the role of internal feedback from t
Autor:
Tjitske Kleefstra, Sébastien Küry, Steven A. Kushner, Edwin Mientjes, Ype Elgersma, Melissa A. Ploeg, Geeske M. van Woerden, Howard Schulman, Julie R. Jones, Balwina Koopal, Martina Proietti Onori, David B. Everman, Bregje W.M. van Bon, Jessica D. Worthington
Publikováno v:
Human Mutation, 39, 2008-2024
Human Mutation, 39, 12, pp. 2008-2024
Human Mutation, 39(12), 2008-2024. Wiley-Liss Inc.
Human Mutation
Human Mutation, 39, 12, pp. 2008-2024
Human Mutation, 39(12), 2008-2024. Wiley-Liss Inc.
Human Mutation
The abundantly expressed calcium/calmodulin‐dependent protein kinase II (CAMK2), alpha (CAMK2A), and beta (CAMK2B) isoforms are essential for learning and memory formation. Recently, a de novo candidate mutation (p.Arg292Pro) in the gamma isoform o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::367a21afd9a7ecdf3c96d4daa055847e
http://hdl.handle.net/2066/198492
http://hdl.handle.net/2066/198492