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
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

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: Rinaldi, Berardo, Ge, Yu Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia Hun, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella

المصدر: Rinaldi , B , Ge , Y H , Freri , E , Tucci , A , Granata , T , Estienne , M , Sun , J H , Gérard , B , Bayat , A , Efthymiou , S , Gervasini , C , Shi , Y S , Houlden , H , Marchisio , P & Milani , D 2022 , ' Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene ' , Neurogenetics , vol. 23 , pp. 27-35 . https://doi.org/10.1007/s10048-021-00666-1Test

مصطلحات موضوعية: AMPARs, Cerebellar hypoplasia, Glutamate, GRIA3, Myoclonic status epilepticus

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/cb433c5a-b85b-4899-bd8e-3cbc81ee7ae5Test

الإتاحة: https://doi.org/10.1007/s10048-021-00666-1Test
https://portal.findresearcher.sdu.dk/da/publications/cb433c5a-b85b-4899-bd8e-3cbc81ee7ae5Test
https://findresearcher.sdu.dk/ws/files/194644595/Open_Access_Version.pdfTest

المؤلفون: Rinaldi, Berardo, Ge, Yu Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella

المصدر: Rinaldi , B , Ge , Y H , Freri , E , Tucci , A , Granata , T , Estienne , M , Sun , J H , Gérard , B , Bayat , A , Efthymiou , S , Gervasini , C , Shi , Y S , Houlden , H , Marchisio , P & Milani , D 2022 , ' Correction to : Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene ' , Neurogenetics , vol. 23 , 81 . https://doi.org/10.1007/s10048-021-00678-xTest

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/2f33d091-2837-4a07-b13b-bf4e89752b28Test

الإتاحة: https://doi.org/10.1007/s10048-021-00678-xTest
https://portal.findresearcher.sdu.dk/da/publications/2f33d091-2837-4a07-b13b-bf4e89752b28Test
https://findresearcher.sdu.dk/ws/files/200413544/Open_Access_Version.pdfTest

المؤلفون: Rinaldi, Berardo, Ge, Yu‑Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia‑Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella

المصدر: neurogenetics ; volume 23, issue 1, page 81-81 ; ISSN 1364-6745 1364-6753

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s10048-021-00678-xTest

المؤلفون: Rinaldi, Berardo, Ge, Yu-Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia-Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella

المصدر: neurogenetics ; volume 23, issue 1, page 27-35 ; ISSN 1364-6745 1364-6753

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s10048-021-00666-1Test

المؤلفون: Peng, Shi Xiao, Pei, Jingwen, Rinaldi, Berardo, Chen, Jiang, Ge, Yu Han, Jia, Min, Wang, Jun, Delahaye-Duriez, Andrée, Sun, Jia Hui, Zang, Yan Yu, Shi, Yong Yun, Zhang, Ning, Gao, Xiang, Milani, Donatella, Xu, Xijia, Sheng, Nengyin, Gerard, Benedicte, Zhang, Chen, Bayat, Allan, Liu, Na, Yang, Jian Jun, Shi, Yun Stone

المصدر: Peng , S X , Pei , J , Rinaldi , B , Chen , J , Ge , Y H , Jia , M , Wang , J , Delahaye-Duriez , A , Sun , J H , Zang , Y Y , Shi , Y Y , Zhang , N , Gao , X , Milani , D , Xu , X , Sheng , N , Gerard , B , Zhang , C , Bayat , A , Liu , N , Yang , J J & Shi , Y S 2022 , ' Dysfunction of ....

مصطلحات موضوعية: Aggression, Animals, Guanine, Humans, Male, Mice, Knockout, Receptors, AMPA/genetics, Synaptic Transmission

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/7447d0e5-807d-4893-a22d-7a4b61719470Test

الإتاحة: https://doi.org/10.1038/s41380-022-01659-8Test
https://portal.findresearcher.sdu.dk/da/publications/7447d0e5-807d-4893-a22d-7a4b61719470Test

المؤلفون: Peng, Shi-Xiao, Pei, Jingwen, Rinaldi, Berardo, Chen, Jiang, Ge, Yu-Han, Jia, Min, Wang, Jun, Delahaye-Duriez, Andrée, Sun, Jia-Hui, Zang, Yan-Yu, Shi, Yong-Yun, Zhang, Ning, Gao, Xiang, Milani, Donatella, Xu, Xijia, Sheng, Nengyin, Gerard, Benedicte, Zhang, Chen, Bayat, Allan, Liu, Na, Yang, Jian-Jun, Shi, Yun Stone

المصدر: Molecular Psychiatry; October 2022, Vol. 27 Issue: 10 p4092-4102, 11p

المؤلفون: GE Yu-han, LI Yan-ling

المصدر: Basic Sciences Journal of Textile Universities / Fangzhi Gaoxiao Jichu Kexue Xuebao; mar2014, Vol. 27 Issue 1, p77-82, 6p

مصطلحات موضوعية: STEADY-state flow, LOTKA-Volterra equations, FLOW simulations, MATHEMATICAL models of fluid dynamics, BIOLOGICAL mathematical modeling, MATHEMATICAL models

المؤلفون: Rinaldi, Berardo, Ge, Yu‑Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia‑Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella

المصدر: Neurogenetics; Jan2022, Vol. 23 Issue 1, p81-81, 1p

مصطلحات موضوعية: STATUS epilepticus, GENETIC variation, PUBLISHED articles