Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Cappuyns, E"'
1
Akademický článek
Autism Spectrum Disorders: Translating human deficits into mouse behavior
Autor: Pasciuto, E., Borrie, S.C., Kanellopoulos, A.K., Santos, A.R., Cappuyns, E., D’Andrea, L., Pacini, L., Bagni, C.
Publikováno v: In Neurobiology of Learning and Memory October 2015 124:71-87
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2
Akademický článek
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3
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Autor: Dijck, A. van, Vulto-van Silfhout, A.T., Cappuyns, E., Werf, I.M. van der, Mancini, G.M., Tzschach, A., Bernier, R., Gozes, I., Eichler, E.E., Romano, C., Lindstrand, A., Nordgren, A., Kvarnung, M., Kleefstra, T., Vries, B.B.A. de, Kury, S., Rosenfeld, J.A., Meuwissen, M.E., Vandeweyer, G., Kooy, R.F., Bakshi, M., Wilson, M., Berman, Y., Dickson, R., Fransen, E., Helsmoortel, C., Ende, J. van den, Aa, N. van der, Wijdeven, M.J. van de, Rosenblum, J., Monteiro, F., Kok, F., Quercia, N., Bowdin, S., Dyment, D., Chitayat, D., Alkhunaizi, E., Boonen, S.E., Keren, B., Jacquette, A., Faivre, L., Bezieau, S., Isidor, B., Riess, A., Moog, U., Lynch, S.A., McVeigh, T., Elpeleg, O., Smeland, M.F., Fannemel, M., Haeringen, A. van, Maas, S.M., Veenstra-Knol, H.E., Schouten, M., Willemsen, M.H., Marcelis, C.L., Ockeloen, C., Burgt, I. van der, Feenstra, I., Smagt, J. van der, Jezela-Stanek, A., Krajewska-Walasek, M., Gonzalez-Lamuno, D., Anderlid, B.M., Malmgren, H., Nordenskjold, M., Clement, E., Hurst, J., Metcalfe, K., Mansour, S., Lachlan, K., Clayton-Smith, J., Hendon, L.G., Abdulrahman, O.A., Morrow, E., McMillan, C., Gerdts, J., Peeden, J., Vergano, S.A.S., Valentino, C., Chung, W.K., Ozmore, J.R., Bedrosian-Sermone, S., Dennis, A., Treat, K., Hughes, S.S., Safina, N., Pichon, J.B. le, McGuire, M., Infante, E., Madan-Khetarpal, S., Desai, S., Benke, P., Krokosky, A., Cristian, I., Baker, L., Gripp, K., Stessman, H.A., Eichenberger, J., Jayakar, P., Pizzino, A., Manning, M.A., Slattery, L., ADNP Consortium
Publikováno v: Biological Psychiatry, 85(4), 287-297. ELSEVIER SCIENCE INC
Biological Psychiatry Volume 85, Issue 4, 15 February 2019, Pages 287-297
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Biological Psychiatry, 85, 4, pp. 287-297
Biological Psychiatry, 85(4), 287. Elsevier USA
Biological psychiatry
Biological Psychiatry, 85, 287-297
Biological psychiatry, 85(4), 287-297. Elsevier USA
Biological Psychiatry, 85(4), 287-297. Elsevier Inc.
Background In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517869385daa59216cda03fc628eb520
http://hdl.handle.net/1887/122773
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4
Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children
Autor: Gozes, I, Van Dijck, A, Hacohen-Kleiman, G, Grigg, I, Karmon, G, Giladi, E, Eger, M, Gabet, Y, Pasmanik-Chor, M, Cappuyns, E, Elpeleg, O, Kooy, R F, Bedrosian-Sermone, S
Publikováno v: Translational psychiatry
Translational Psychiatry
A major flaw in autism spectrum disorder (ASD) management is late diagnosis. Activity-dependent neuroprotective protein (ADNP) is a most frequent de novo mutated ASD-related gene. Functionally, ADNP protects nerve cells against electrical blockade. I
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6ab980d92307e8aeb9c30065fa5a43c
https://hdl.handle.net/10067/1425290151162165141
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5
Akademický článek
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6
Akademický článek
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7
Akademický článek
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8
Akademický článek
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10
Akademický článek
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
Autor: D'Incal CP; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. claudio.dincal@uantwerpen.be., Cappuyns E; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Choukri K; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., De Man K; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Szrama K; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Konings A; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Bastini L; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Van Meel K; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Buys A; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Gabriele M; Massachusetts Institute of Technology, Cambridge, USA., Rizzuti L; Neurogenomics, Human Technopole, Viale Rita Levi-Montacini 1, 20157, Milan, Italy.; High Definition Disease Modelling Lab, Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology, IRCCS, 20141, Milan, Italy.; Department of Experimental Oncology, European Institute of Oncology IRCCS, Via Adamello 16, 20139, Milan, Italy., Vitriolo A; Neurogenomics, Human Technopole, Viale Rita Levi-Montacini 1, 20157, Milan, Italy.; High Definition Disease Modelling Lab, Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology, IRCCS, 20141, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122, Milan, Italy., Testa G; Neurogenomics, Human Technopole, Viale Rita Levi-Montacini 1, 20157, Milan, Italy.; High Definition Disease Modelling Lab, Stem Cell and Organoid Epigenetics, IEO, European Institute of Oncology, IRCCS, 20141, Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, Via Santa Sofia 9, 20122, Milan, Italy., Mohn F; Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland.; University of Basel, Basel, Switzerland., Bühler M; Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland.; University of Basel, Basel, Switzerland., Van der Aa N; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Van Dijck A; Family Medicine and Population Health (FAMPOP), Department of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium., Kooy RF; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Berghe WV; Cognitive Genetics (COGNET) and Protein Chemistry, Proteomics and Epigenetic Signaling (PPES), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Publikováno v: Scientific reports [Sci Rep] 2024 Jun 26; Vol. 14 (1), pp. 14710. Date of Electronic Publication: 2024 Jun 26.
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