المؤلفون: Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda, Sun, Jia-Hui, Ge, Yu-Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura, Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe, Pedersen, Miriam, Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa, Sully, Krystal, Murali, Chaya, Burrage, Lindsay, Plaud Gonzalez, Julie Ana, Parnes, Mered, Friedman, Jennifer, Isidor, Bertrand, Lefranc, Jérémie, Redon, Sylvia, Heron, Delphine, Mignot, Cyril, Keren, Boris, Fradin, Mélanie, Dubourg, Christele, Mercier, Sandra, Besnard, Thomas, Cogne, Benjamin, Deb, Wallid, Rivier, Clotilde, Milani, Donatella, Bedeschi, Maria Francesca, Di Napoli, Claudia, Grilli, Federico, Marchisio, Paola, Koudijs, Suzanna, Veenma, Danielle, Argilli, Emanuela, Lynch, Sally Ann, Au, Ping Yee Billie, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Patron Romero, Leslie, Li, Wenhui Laura, Thorpe, Erin, Hecher, Laura, Johannsen, Jessika, Denecke, Jonas, Mcniven, Vanda, Szuto, Anna, Wakeling, Emma, Cruz, Vincent, Sency, Valerie, Wang, Heng, Piard, Juliette, Kortüm, Fanny, Herget, Theresia, Bierhals, Tatjana, Condell, Angelo, Zeev, Bruria Ben, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke, Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes, Shi, Yun Stone, Kristensen, Anders

المساهمون: Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut du Thorax Nantes, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Laboratoires de neurosciences intégratives et cliniques (EA 481), Université Bourgogne Franche-Comté COMUE (UBFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC)-Université Bourgogne Franche-Comté COMUE (UBFC), Pathophysiologie et génétique du neurone et du muscle (PGNM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Les Hôpitaux Universitaires de Strasbourg (HUS), University of Copenhagen = Københavns Universitet (UCPH), AB (Allan Bayat) is funded by Novo Nordisk Foundation BRIDGE Programme (NNF20SA0064340). JHS (Jia-Hui Sun) is supported by the National Natural ScienceFoundation of China (32200779). The research conducted at the Murdoch Children's Research Institute (MCRI) was supported by the Victorian Government's Operational InfrastructureSupport Program. The Royal Children’s Hospital Foundation generously supports the Chair in Genomic Medicine awarded to JC. LCB (Lindsay Catherine Burrage) is supported by NIH (5U54OD030165). YSS (Yun Stone Shi) is supported by the National Key R & D Program of China (2019YFA0801603), the National Natural Science Foundation of China (32170951), the Fundamental Research Funds for the Central Universities (021414380533) and Special Fund for Science and Technology Innovation Strategy of Guangdong Province (2021B0909050004). ASK (Anders Skov Kristensen) is supported by Independent Research Fund Denmark (3101-00386B).

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: AMPA receptor, GRIA, GRIA3, clinical biomarker, genotype-phenotype, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38038360; hal-04386909; https://univ-rennes.hal.science/hal-04386909Test; https://univ-rennes.hal.science/hal-04386909/documentTest; https://univ-rennes.hal.science/hal-04386909/file/Rinaldi%20et%20al-2023-Gain-of-function%20and%20loss-of-function%20variants%20in%20GRIA3%20lead%20to%20distinct%20neurodevelopmental%20phenotypes.pdfTest; PUBMED: 38038360

الإتاحة: https://doi.org/10.1093/brain/awad403Test
https://univ-rennes.hal.science/hal-04386909Test
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المؤلفون: Hackney, Celeste M., Flórez Salcedo, Paula, Mueller, Emilie, Koch, Thomas Lund, Kjelgaard, Lau D., Watkins, Maren, Zachariassen, Linda, Tuelund, Pernille Sønderby, McArthur, Jeffrey R., Adams, David J., Kristensen, Anders S., Olivera, Baldomero, Finol-Urdaneta, Rocio K., Safavi-Hemami, Helena, Morth, Jens Preben, Ellgaard, Lars

المصدر: Hackney , C M , Flórez Salcedo , P , Mueller , E , Koch , T L , Kjelgaard , L D , Watkins , M , Zachariassen , L , Tuelund , P S , McArthur , J R , Adams , D J , Kristensen , A S , Olivera , B , Finol-Urdaneta , R K , Safavi-Hemami , H , Morth , J P & Ellgaard , L 2023 , ' A previously unrecognized superfamily of macro-conotoxins includes an inhibitor of the sensory neuron calcium channel Cav2.3 ' , PLOS Biology , vol. 21 ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/life_below_water, name=SDG 14 - Life Below Water

وصف الملف: application/pdf

العلاقة: https://orbit.dtu.dk/en/publications/edae699f-dda4-497b-a3d4-7b925d8c30a1Test

الإتاحة: https://doi.org/10.1371/journal.pbio.3002217Test
https://orbit.dtu.dk/en/publications/edae699f-dda4-497b-a3d4-7b925d8c30a1Test
https://backend.orbit.dtu.dk/ws/files/333027179/journal.pbio.3002217.pdfTest

المؤلفون: Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda G, Sun, Jia-Hui, Ge, Yu-Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura H, Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe M, Pedersen, Miriam G, Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa T

المصدر: Brain: A Journal of Neurology; May2024, Vol. 147 Issue 5, p1837-1855, 19p

مصطلحات موضوعية: EPILEPSY, LENNOX-Gastaut syndrome, PHENOTYPES, SLEEP interruptions, NEURAL development, MISSENSE mutation, GENETIC variation

المؤلفون: Ismail, Vardha, Zachariassen, Linda, Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L, Tatton Brown, Kate, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M, Pedersen, Miriam G, Desir, Julie, Bayat, Allan, Lusgaard, Maria, Guille, Matthew, Kristensen, Anders S, Baralle, Diana

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/456994/1/FIgures.pdfTest; https://eprints.soton.ac.uk/456994/2/Ismael_et_al_main_manuscript_revision1.docxTest; https://eprints.soton.ac.uk/456994/3/Ismael_et_al_manuscript_file_revision1.pdfTest; Ismail, Vardha, Zachariassen, Linda, Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L, Tatton Brown, Kate, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M, Pedersen, Miriam G, Desir, Julie, Bayat, Allan, Lusgaard, Maria, Guille, Matthew, Kristensen, Anders S and Baralle, Diana (2022) Identification and functional evaluation of GRIA1 missense and truncation variants in patients with intellectual disability: an emerging neurodevelopmental phenotype. The American Journal of Human Genetics, 109 (7), 1217-1241.

الإتاحة: https://eprints.soton.ac.uk/456994Test/
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https://eprints.soton.ac.uk/456994/3/Ismael_et_al_manuscript_file_revision1.pdfTest

المؤلفون: Ismail, Vardha, Zachariassen, Linda G., Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L., Baple, Emma, Brown, Kate Tatton, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M., Pedersen, Miriam G., Desir, Julie, Bayat, Allan, Musgaard, Maria, Guille, Matthew, Kristensen, Anders S., Baralle, Diana

المصدر: Ismail , V , Zachariassen , L G , Godwin , A , Sahakian , M , Ellard , S , Stals , K L , Baple , E , Brown , K T , Foulds , N , Wheway , G , Parker , M O , Lyngby , S M , Pedersen , M G , Desir , J , Bayat , A , Musgaard , M , Guille , M , Kristensen , A S & Baralle , D 2022 , ' Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID ....

مصطلحات موضوعية: AMPA receptor, CRISPR, glutamate receptor 1, GRIA1, iGluR, neurodevelopmental impairment, Xenopus, free movement pattern Y maze

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/41f3212f-a627-44a9-8d72-52f0fcee330fTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.05.009Test
https://portal.findresearcher.sdu.dk/da/publications/41f3212f-a627-44a9-8d72-52f0fcee330fTest
https://findresearcher.sdu.dk/ws/files/204787468/Open_Access_Version.pdfTest

المؤلفون: Zachariassen, Linda G., Hafner, Anne-Sophie, Choquet, Daniel, Kristensen, Anders S.

المصدر: Biophysical Journal ; volume 116, issue 3, page 105a ; ISSN 0006-3495

مصطلحات موضوعية: Biophysics

الإتاحة: https://doi.org/10.1016/j.bpj.2018.11.601Test
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المؤلفون: Zachariassen, Linda G., Katchan, Ljudmila, Jensen, Anna G., Pickering, Darryl S., Plested, Andrew J. R., Kristensen, Anders S.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2016 Jul 01. 113(27), E3950-E3959.

الوصول الحر: https://www.jstor.org/stable/26470764Test

المؤلفون: Andersen, Jacob, Stuhr-Hansen, Nicolai, Zachariassen, Linda, Toubro, Søren, Hansen, Stinna M. R., Eildal, Jonas N. N., Bond, Andrew D., Bøgesø, Klaus P., Bang-Andersen, Benny, Kristensen, Anders S., Strømgaard, Kristian

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2011 Jul . 108(29), 12137-12142.

الوصول الحر: https://www.jstor.org/stable/27978961Test

المؤلفون: Katchan, Ljudmila, Zachariassen, Linda G., Kristensen, Anders S., Plested, Andrew J.R.

المصدر: Biophysical Journal ; volume 108, issue 2, page 287a ; ISSN 0006-3495

مصطلحات موضوعية: Biophysics

الإتاحة: https://doi.org/10.1016/j.bpj.2014.11.1566Test
https://api.elsevier.com/content/article/PII:S0006349514027751?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0006349514027751?httpAccept=text/plainTest

المؤلفون: Zachariassen, Linda, Katchan, Mila, Plested, Andrew, Pickering, Darryl S., Kristensen, Anders S.

المصدر: Biophysical Journal ; volume 106, issue 2, page 151a ; ISSN 0006-3495

مصطلحات موضوعية: Biophysics

الإتاحة: https://doi.org/10.1016/j.bpj.2013.11.871Test
https://api.elsevier.com/content/article/PII:S0006349513021127?httpAccept=text/xmlTest
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