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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: Di Francesco, Daniela, Swenerton, Anne, Li, Wenhui Laura, Dunham, Christopher, Hendson, Glenda, Boerkoel, Cornelius F.
المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 12, page 2903-2907 ; ISSN 1552-4825 1552-4833
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4دورية أكاديمية
المؤلفون: Sage, Adam P., Lee, Hyun Kyung, Dalmann, Joshua, Lin, Susan, Samra, Simran, Salman, Areesha, Del Bel, Kate L., Li, Wenhui Laura, Lehman, Anna, Turvey, Stuart E., Boerkoel, Cornelius F., Richmond, Phillip A.
المساهمون: BC Children's Hospital
المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 8, page 2219-2224 ; ISSN 1552-4825 1552-4833
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5دورية 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., Sully, Krystal, Murali, Chaya N., Burrage, Lindsay C., 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, Ben-Zeev, Bruria, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke S., Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes R., Shi, Yun Stone, Kristensen, Anders S.
المصدر: Rinaldi , B , Bayat , A , Zachariassen , L G , Sun , J H , Ge , Y H , Zhao , D , Bonde , K , Madsen , L H , Awad , I A A , Bagiran , D , Sbeih , A , Shah , S M , El-Sayed , S , Lyngby , S M , Pedersen , M G , Stenum-Berg , C , Walker , L C , Krey , I , Delahaye-Duriez , A , Emrick , L T , Sully , K , Murali , C N ....
الإتاحة: https://doi.org/10.1093/brain/awad403Test
https://pure.eur.nl/en/publications/d8f07fae-d289-416a-95eb-d6afb33abf5eTest
http://www.scopus.com/inward/record.url?scp=85192220050&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: Chin, Hui-Lin, Gazzaz, Nour, Huynh, Stephanie, Handra, Iulia, Warnock, Lynn, Moller-Hansen, Ashley, Boerkoel, Pierre, Jacobsen, Julius O.B., du Souich, Christèle, Zhang, Nan, Shefchek, Kent, Prentice, Leah M., Washington, Nicole, Haendel, Melissa, Armstrong, Linlea, Clarke, Lorne, Li, Wenhui Laura, Smedley, Damian, Robinson, Peter N., Boerkoel, Cornelius F.
المساهمون: National Institute of Child Health and Human Development, National Human Genome Research Institute
المصدر: Genetics in Medicine ; volume 24, issue 7, page 1512-1522 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.03.013Test
https://api.elsevier.com/content/article/PII:S1098360022007031?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022007031?httpAccept=text/plainTest -
7دورية 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 -
8دورية أكاديمية
المؤلفون: Moller‐Hansen, Ashley, Hejla, Duha, Lee, Hyun Kyung, Lyles, Jenea Barbara, Yang, Yunhan, Chen, Kun, Li, Wenhui Laura, Thomas, Gary, Boerkoel, Cornelius F.
المصدر: American Journal of Medical Genetics. Part A; Aug2023, Vol. 191 Issue 8, p2181-2187, 7p
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9دورية أكاديمية
المؤلفون: Amarillo, Ina E., Li, Wenhui Laura, Li, Xinmin, Vilain, Eric, Kantarci, Sibel
المصدر: American Journal of Medical Genetics Part A ; volume 164, issue 4, page 958-965 ; ISSN 1552-4825 1552-4833