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1Book
المؤلفون: Keskin, Zeynep Nur, Aktaş, Emre, Ozgenturk Ozdemir, Nehir
مصطلحات موضوعية: Bioinformatic analyses, Schizophrenia, Glutamate, GRIA3
Relation: https://doi.org/10.5281/zenodo.8012948; https://doi.org/10.5281/zenodo.8012949; oai:zenodo.org:8012949
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2Academic Journal
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
Relation: info:eu-repo/semantics/altIdentifier/pmid/38038360; hal-04386909; https://univ-rennes.hal.science/hal-04386909; https://univ-rennes.hal.science/hal-04386909/document; 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.pdf; PUBMED: 38038360
الاتاحة: https://univ-rennes.hal.science/hal-04386909
https://univ-rennes.hal.science/hal-04386909/document
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.pdf
https://doi.org/10.1093/brain/awad403 -
3Academic Journal
المؤلفون: Orcun Avsar
المصدر: The Ukrainian Biochemical Journal, Vol 93, Iss 1, Pp 82-87 (2021)
مصطلحات موضوعية: bipolar disorder, lithium, impa1, gria3, mirna hsa-mir-34a, mirna hsa-mir-124, Biochemistry, QD415-436, Medicine, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4Academic Journal
المؤلفون: Fei Niu, Bin Zhang, Jie Feng, Xiang Mao, Xiao-Jian Xu, Jin-Qian Dong, Bai-Yun Liu
المصدر: Neural Regeneration Research, Vol 16, Iss 12, Pp 2438-2445 (2021)
مصطلحات موضوعية: dexamethasone, gria3, maob, mass spectrometry, mitochondrial dysfunction, ndufs2, ndufv2, proteomics, synaptic abnormalities, traumatic brain injury, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: Siqueira, Edilene, Obiols-Guardia, Aida, Jorge-Torres, Olga C., Oliveira-Mateos, Cristina, Soler, Marta, Ramesh-Kumar, Deepthi, Setién, Fernando, van Rossum, Daniëlle, Pascual-Alonso, Ainhoa, Xiol, Clara, Ivan, Cristina, Shimizu, Masayoshi, Armstrong, Judith, Calin, George A., Pasterkamp, R. Jeroen, Esteller, Manel, Guil, Sonia
المساهمون: TN groep Pasterkamp, Translational Neuroscience, Brain, Regenerative Medicine and Stem Cells
مصطلحات موضوعية: AMPA receptor, circRNA, GRIA3, MeCP2, microtubules, noncoding RNA, Rett syndrome, SIRT2, T-UCR, Drug Discovery, Molecular Medicine, Journal Article
وصف الملف: application/pdf
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6Academic Journal
المؤلفون: Rinaldi B., Ge Y. -H., Freri E., Tucci A., Granata T., Estienne M., Sun J. -H., Gerard B., Bayat A., Efthymiou S., Gervasini C., Shi Y. S., Houlden H., Marchisio P., Milani D.
المساهمون: B. Rinaldi, Y.-. Ge, E. Freri, A. Tucci, T. Granata, M. Estienne, J.-. Sun, B. Gerard, A. Bayat, S. Efthymiou, C. Gervasini, Y.S. Shi, H. Houlden, P. Marchisio, D. Milani
مصطلحات موضوعية: AMPAR, cerebellar hypoplasia, glutamate, GRIA3, myoclonic status epilepticus, Settore MED/03 - Genetica Medica
Relation: info:eu-repo/semantics/altIdentifier/pmid/34731330; info:eu-repo/semantics/altIdentifier/wos/WOS:000714312400001; volume:23; issue:1; firstpage:27; lastpage:35; numberofpages:9; journal:NEUROGENETICS; http://hdl.handle.net/2434/893317; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118528582
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7Academic Journal
المؤلفون: Rinaldi, B, Ge, Y-H, Freri, E, Tucci, A, Granata, T, Estienne, M, Sun, J-H, Gerard, B, Bayat, A, Efthymiou, S, Gervasini, C, Shi, YS, Houlden, H, Marchisio, P, Milani, D
المصدر: neurogenetics (2021) (In press).
مصطلحات موضوعية: GRIA3, AMPARs, Glutamate, Myoclonic status epilepticus, Cerebellar hypoplasia
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10138673/1/Rinaldi2021_Article_MyoclonicStatusEpilepticusAndC.pdf; https://discovery.ucl.ac.uk/id/eprint/10138673/
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8Academic Journal
المؤلفون: Qiong Liu, Ning-Ning Sun, Zheng-Zhi Wu, Da-Hua Fan, Mei-Qun Cao
المصدر: Neural Regeneration Research, Vol 13, Iss 5, Pp 837-845 (2018)
مصطلحات موضوعية: nerve regeneration, traditional Chinese medicine, Chaihu-Shugan-San, depression, open-field test, sucrose consumption test, forced swimming test, miR-124, neural plasticity, MAPK14, Gria3, neural regeneration, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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9Academic Journal
المؤلفون: V. І. Tsymbalyuk, V. V. Medvedyev, І. G. Vasylyeva, V. І. Коzyavkin, О. S. Galanta, О. І. Tsyubko, N. G. Chopyk, N. P. Olexenko, N. G. Draguntsova
المصدر: Клінічна хірургія, Iss 4, Pp 69-73 (2017)
مصطلحات موضوعية: травма спинного мозку, синдром спастичності, мРНК, триптофан-гідроксилаза 2, трансмембранний переносник моноамінів Slc18a2, субодиниця рецептора глутамату Gria3, Surgery, RD1-811
وصف الملف: electronic resource
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10Academic Journal
المؤلفون: Chun-Hua Wei, Gang Wu, Qian Cai, Xi-Can Gao, Fan Tong, Rui Zhou, Rui-Guang Zhang, Ji-Hua Dong, Yu Hu, Xiao-Rong Dong
المصدر: Journal of Hematology & Oncology, Vol 10, Iss 1, Pp 1-19 (2017)
مصطلحات موضوعية: miR-330-3p, NSCLC, Invasion and metastasis, GRIA3, DNA methyltransferase, MAPK/ERK signaling, Diseases of the blood and blood-forming organs, RC633-647.5, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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11Academic Journal
المؤلفون: Freri, Elena, Granata, Tiziana, Estienne, margherita
مصطلحات موضوعية: AMPARs, Cerebellar hypoplasia, GRIA3, Glutamate, Myoclonic status epilepticus
Relation: https://doi.org/10.1007/s10048-021-00666-1; https://doi.org/10.5281/zenodo.7669612; https://doi.org/10.5281/zenodo.7669613; oai:zenodo.org:7669613
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12
المؤلفون: Xiang Mao, Bin Zhang, Jie Feng, Baiyun Liu, Fei Niu, Xiaojian Xu, Jinqian Dong
المصدر: Neural Regeneration Research, Vol 16, Iss 12, Pp 2438-2445 (2021)
Neural Regeneration Researchمصطلحات موضوعية: medicine.medical_specialty, Traumatic brain injury, Ndufv2, synaptic abnormalities, Vascular permeability, dexamethasone, Gria3, Cerebrospinal fluid, proteomics, Developmental Neuroscience, Western blot, Internal medicine, mitochondrial dysfunction, medicine, RC346-429, Dexamethasone, mass spectrometry, medicine.diagnostic_test, business.industry, NDUFS2, traumatic brain injury, Maob, Ndufs2, Nerve injury, gria3, maob, ndufs2, ndufv2, medicine.disease, Endocrinology, Monoamine oxidase B, Neurology. Diseases of the nervous system, medicine.symptom, business, medicine.drug, Research Article
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13
المؤلفون: Rong-Juan Dai, Mei Long, Min-Jie Hu
المصدر: Molecular and Cellular Biochemistry
مصطلحات موضوعية: Clinical Biochemistry, lncRNA NEAT1, Article, Histones, chemistry.chemical_compound, miR-212-5p, Transcription (biology), Non-alcoholic Fatty Liver Disease, Lipid droplet, NAFLD, microRNA, Oil Red O, Humans, Luciferase, Receptors, AMPA, GRIA3, Molecular Biology, Gene knockdown, H3K27, biology, Chemistry, Lysine, Fatty Acids, Acetylation, Cell Biology, General Medicine, Hep G2 Cells, Lipid Metabolism, Molecular biology, Fatty acid synthase, MicroRNAs, Gene Expression Regulation, Liver, Case-Control Studies, biology.protein, MiR-212, RNA, Long Noncoding
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14Dissertation/ Thesis
المؤلفون: Frajbišová, Aneta
المساهمون: Šolc, Roman, Kočandrlová, Karolina
مصطلحات موضوعية: obličejové rysy, genetické faktory, schizofrenie, ASD, OCD, bipolární porucha, NRXN1, CACNA2D2, CACNA2D3, RBFOX1, OPCML, SCN2A, CHD8, MeCP2, CNTNAP2, SCUBE1, GRIA3, RORβ, facial features, genetics factors, schizophrenia, bipolar disorder
وصف الملف: application/pdf
Relation: http://hdl.handle.net/20.500.11956/185048; 252465
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15
المؤلفون: Elena Puerta-García, Miguel Ángel Calleja-Hernández, María Isabel Carrasco-Campos, Alberto Jiménez-Morales, Marisa Cañadas-Garre, Elena Macías-Cortés, Francisco Javier Barrero-Hernández, Carmen Arnal-García, Cristina Pérez-Ramírez, Antonio Sánchez-Pozo
المصدر: Molecular Neurobiology. 58:4716-4726
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oncology, medicine.medical_specialty, Multiple Sclerosis, Adolescent, Genotype, Neuroscience (miscellaneous), Logistic regression, Polymorphism, Single Nucleotide, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Internal medicine, 2',5'-Oligoadenylate Synthetase, medicine, Humans, Proto-Oncogene Proteins c-cbl, Receptors, AMPA, Allele, GRIA3, Alleles, Adaptor Proteins, Signal Transducing, Expanded Disability Status Scale, biology, business.industry, Multiple sclerosis, Interferon-beta, medicine.disease, Cathepsins, Receptors, TNF-Related Apoptosis-Inducing Ligand, 030104 developmental biology, Neurology, Pharmacogenetics, biology.protein, Female, CBLB, business, 030217 neurology & neurosurgery
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16
المؤلفون: Li Li, Hongyu Liu, Yi-Han Chen, Qicheng Zou, Jian Yang, Youming Lu, Xingdong Gu, Ke Xiong, Qiang Ji, Luying Peng, Dandan Liang, Jinfeng Xue, Lingling Wang, Xiaoyu He, Duanyang Xie, Luxin Wang, Xuling Su, Yi Liu, Guanghua Wang, Xueting Gao
المصدر: Cell Research
مصطلحات موضوعية: Induced Pluripotent Stem Cells, Action Potentials, Endogeny, 030204 cardiovascular system & hematology, Article, 03 medical and health sciences, Glutamatergic, 0302 clinical medicine, Atrial Fibrillation, Animals, Humans, Myocytes, Cardiac, Heart Atria, GRIA3, Induced pluripotent stem cell, Molecular Biology, 030304 developmental biology, 0303 health sciences, biology, Glutamate receptor, Cell Biology, Rats, Cell biology, Electrophysiology, cardiovascular system, biology.protein, Excitatory postsynaptic potential, Ionotropic effect
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17
المؤلفون: Martinez-Esteve Melnikova A, Pijuan J, Aparicio J, Ramírez-Camacho A, Altisent-Huguet A, Vilanova-Adell A, Arzimanoglou Alexandros, Armstrong-Moron J, Palau F, Hoenicka J, San Antonio-Arce MV
المصدر: EUROPEAN JOURNAL OF MEDICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: X-linked, Epilepsy, flop, Flip, GRIA3, AMPA receptor, Synaptic transmission, Developmental epileptic encephalopathy
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18
المؤلفون: Arianna Tucci, Jia Hui Sun, Paola Marchisio, Henry Houlden, Elena Freri, Yun Stone Shi, Berardo Rinaldi, Stephanie Efthymiou, Tiziana Granata, Donatella Milani, Allan Bayat, Cristina Gervasini, Yu Han Ge, Margherita Estienne, Bénédicte Gérard
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-x
Neurogeneticsمصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, business.industry, Developmental Disabilities, Correction, GRIA3 Gene, Status epilepticus, Nervous System Malformations, medicine.disease, Pedigree, Cellular and Molecular Neuroscience, Status Epilepticus, Cerebellum, Intellectual Disability, Genetics, medicine, Humans, Cerebellar hypoplasia (non-human), medicine.symptom, Child, business, Genetics (clinical)
وصف الملف: application/pdf
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19Academic Journal
المؤلفون: Philips, Anju K., Siren, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kaariainen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A., Hu, Hao, Kalscheuer, Vera M., Jarvela, Irma
المساهمون: Department of Medical and Clinical Genetics, Haartman Institute (-2014)
مصطلحات موضوعية: LINKED MENTAL-RETARDATION, THYROID-HORMONE TRANSPORTER, HERNDON-DUDLEY-SYNDROME, GENE, PROTEIN, GRIA3, RECEPTOR, IDENTIFICATION, DUPLICATIONS, CANDIDATE, Biomedicine
وصف الملف: application/pdf
Relation: We thank all the patients and their families for their active participation and cooperation. The work was funded by the Sigrid Juselius Foundation, Finnish Medical Association and by the Project GENCODYS (241995), which is funded by the European Union Framework Program 7 (FP7). Nathalie Fieremans and Melanie Bienek are acknowledged for their excellent technical assistance.; Philips , A K , Siren , A , Avela , K , Somer , M , Peippo , M , Ahvenainen , M , Doagu , F , Arvio , M , Kaariainen , H , Van Esch , H , Froyen , G , Haas , S A , Hu , H , Kalscheuer , V M & Jarvela , I 2014 , ' X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes ' , Orphanet journal of rare diseases , vol. 9 , 49 . https://doi.org/10.1186/1750-1172-9-49; ORCID: /0000-0002-1770-6187/work/42752712; http://hdl.handle.net/10138/162350; fddfda7a-5724-4f85-903b-a241aeb1d3bd; 84899551644; 000335258200001
الاتاحة: http://hdl.handle.net/10138/162350
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20Academic Journal
المؤلفون: Fang, Jie, An, Xingkai, Chen, Shuai, Yu, Zhenzhen, Ma, Qilin, Qu, Hongli
مصطلحات موضوعية: Migraine, GRIA1, GRIA3, Gene variant, Glutamate