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1دورية أكاديمية
المؤلفون: Sun, Jia-Hui, Chen, Jiang, Valenzuela, Fernando Eduardo Ayala, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing-Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone
المصدر: PLOS Genetics. 17(6)
مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Neurodegenerative, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amino Acid Sequence, Animals, Cerebellum, Child, Preschool, Egg Proteins, Female, Gain of Function Mutation, Gene Expression, HEK293 Cells, Hippocampus, Humans, Membrane Proteins, Mice, Mice, Inbred ICR, Models, Molecular, Neurons, Primary Cell Culture, Protein Conformation, Receptors, AMPA, Sequence Alignment, Sequence Homology, Amino Acid, Spasms, Infantile, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1v56z4bnTest
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2دورية أكاديمية
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 -
3دورية أكاديمية
المؤلفون: Luo, Yi-miao, Liu, Shu-sen, Zhao, Ming, Wei, Wei, Yao, Jiu-xiu, Sun, Jia-hui, Cao, Yu, Li, Hao
المصدر: Current Medical Science; Jun2024, Vol. 44 Issue 3, p578-588, 11p
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4دورية أكاديمية
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
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5دورية أكاديمية
المؤلفون: Yu, Ye-Yang, Zhang, Si-Yu, Sun, Jia-Hui, Li, Yu-Yang, Zhang, Yao-Yao, Lu, Ai-Min, Liu, Li, Voglmeir, Josef
المصدر: Food Materials Research ; volume 4, issue 1, page 0-0 ; ISSN 2771-4683
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6دورية أكاديمية
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 -
7دورية أكاديمية
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 , ' Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene ' , Neurogenetics , vol. 23 , no. 1 , pp. 27-35 . https://doi.org/10.1007/s10048-021-00666-1Test
مصطلحات موضوعية: AMPARs, Cerebellar hypoplasia, Glutamate, GRIA3, Myoclonic status epilepticus
الإتاحة: https://doi.org/10.1007/s10048-021-00666-1Test
https://curis.ku.dk/portal/da/publications/myoclonic-status-epilepticus-and-cerebellar-hypoplasia-associated-with-a-novel-variant-in-the-gria3-geneTest(a41ec33d-9341-4a33-89f5-5b3c5dfa89a2).html
http://www.scopus.com/inward/record.url?scp=85118528582&partnerID=8YFLogxKTest -
8دورية أكاديمية
المؤلفون: Yang, Yi, Zou, Jian-Long, Sun, Jia-Hui, Huang, Ming, Fang, Zhou, Li, Tian-Xiao, Wu, Ting-Ting, Chen, Yi, Quan, Da-Ping, Xu, Ying-Ying, Wang, Yu-Ming
المصدر: Neural Regeneration Research ; volume 17, issue 5, page 1023 ; ISSN 1673-5374
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9دورية أكاديمية
المؤلفون: Lai, Bi-Qin, Bai, Yu-Rong, Han, Wei-Tao, Zhang, Bao, Liu, Shu, Sun, Jia-Hui, Liu, Jia-Lin, Li, Ge, Zeng, Xiang, Ding, Ying, Ma, Yuan-Huan, Zhang, Ling, Chen, Zheng-Hong, Wang, Jun, Xiong, Yuan, Wu, Jin-Hua, Quan, Qi, Xing, Ling-Yan, Zhang, Hong-Bo, Zeng, Yuan-Shan
المصدر: Bioactive Materials ; volume 11, page 15-31 ; ISSN 2452-199X
الإتاحة: https://doi.org/10.1016/j.bioactmat.2021.10.005Test
https://api.elsevier.com/content/article/PII:S2452199X21004564?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2452199X21004564?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Sun, Jia Hui, Chen, Jiang, Valenzuela, Fernando Eduardo Ayala, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone
المصدر: Sun , J H , Chen , J , Valenzuela , F E A , Brown , C , Masser-Frye , D , Jones , M , Romero , L P , Rinaldi , B , Li , W L , Li , Q Q , Wu , D , Gerard , B , Thorpe , E , Bayat , A & Shi , Y S 2021 , ' X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 ' , PLOS Genetics , vol. 17 , no. 6 , e1009608 . https://doi.org/10.1371/journal.pgen.1009608Test
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/c92262ea-135f-45a1-8fe2-bd5db1119580Test
الإتاحة: https://doi.org/10.1371/journal.pgen.1009608Test
https://portal.findresearcher.sdu.dk/da/publications/c92262ea-135f-45a1-8fe2-bd5db1119580Test
https://findresearcher.sdu.dk/ws/files/184130835/Open_Access_Version.pdfTest