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1دورية أكاديمية
المؤلفون: Lovászi, Marianna, Németh, Zoltán H., Keleştemur, Taha, Sánchez, Itzel V., Antonioli, Luca, Pacher, Pál, Wagener, Gebhard, Haskó, György
مصطلحات موضوعية: Immunosuppression, Inflammation, Injury, Trauma
وصف الملف: application/pdf
العلاقة: Shock; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Lovászi, M., Németh, Z. H., Keleştemur, T., Sánchez, I. V., Antonioli, L., Pacher, P. . Haskó, G. (2024). Evaluation of components of the extracellular purinergic signaling system in human sepsis. Shock, 61(4), 527-540. http://dx.doi.org/10.1097/SHK.0000000000002230Test; http://dx.doi.org/10.1097/SHK.0000000000002230Test; https://hdl.handle.net/20.500.12511/12490Test; 61; 527; 540; 2-s2.0-85190408205; Q1
الإتاحة: https://doi.org/20.500.12511/1249010.1097/SHK.0000000000002230Test
https://hdl.handle.net/20.500.12511/12490Test -
2دورية أكاديمية
المؤلفون: Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier
المساهمون: NIH, NHGRI, Takeda Science Foundation, AMED, National Research Foundation of Korea
المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 487-508 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2024.01.007Test
https://api.elsevier.com/content/article/PII:S0002929724000077?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929724000077?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Skopál, Adrienn, Kéki, Tamás, Tóth, Péter Á, Csóka, Balázs, Koscsó, Balázs, Németh, Zoltán H, Antonioli, Luca, Ivessa, Andreas, Ciruela, Francisco, Virág, László, Haskó, György, Kókai, Endre
المساهمون: Pathology
المصدر: The Journal of biological chemistry ; 298 ; 5 ; 101888 ; United States
مصطلحات موضوعية: adenosine receptor, cathepsin D, inflammation, macrophage, protein interaction
العلاقة: Journal of Biological Chemistry; https://doi.org/10.1016/j.jbc.2022.101888Test; Skopál A, Kéki T, Tóth PÁ, Csóka B, Koscsó B, Németh ZH, Antonioli L, Ivessa A, Ciruela F, Virág L, Haskó G, Kókai E. Cathepsin D interacts with adenosine A2A receptors in mouse macrophages to modulate cell surface localization and inflammatory signaling. J Biol Chem. 2022 May;298(5):101888. doi:10.1016/j.jbc.2022.101888. Epub 2022 Mar 31. PMID: 35367412; PMCID: PMC9065627.; http://hdl.handle.net/20.500.14038/52391Test; The Journal of biological chemistry
الإتاحة: https://doi.org/10.1016/j.jbc.2022.101888Test
https://doi.org/20.500.14038/52391Test
https://hdl.handle.net/20.500.14038/52391Test -
4دورية أكاديمية
المؤلفون: Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J.L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R.F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O.M., Popitsch, Niko, Taylor, Jenny C.
المصدر: Pagnamenta , A T , Camps , C , Giacopuzzi , E , Taylor , J M , Hashim , M , Calpena , E , Kaisaki , P J , Hashimoto , A , Yu , J , Sanders , E , Schwessinger , R , Hughes , J R , Lunter , G , Dreau , H , Ferla , M , Lange , L , Kesim , Y , Ragoussis , V , Vavoulis , D V , Allroggen , H , Ansorge , O , Babbs , C , Banka , S , Baños-Piñero , ....
مصطلحات موضوعية: Bioinformatics pipeline development, Clinical impact, Diagnostic yield, Genome sequencing, Non-coding, Pipeline optimisation, Rare diseases, Splice site variant, Structural variant
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s13073-023-01240-0Test
https://hdl.handle.net/11370/b4a3cc38-5d57-4b8f-af0b-d5b5dd52ae43Test
https://research.rug.nl/en/publications/b4a3cc38-5d57-4b8f-af0b-d5b5dd52ae43Test
https://pure.rug.nl/ws/files/900420764/Structural_and_non-coding_variants_increase_the_diagnostic_yield_of_clinical_whole_genome_sequencing_for_rare_diseases.pdfTest
http://www.scopus.com/inward/record.url?scp=85176092612&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K, Dabir, Tabib, Morrison, Patrick J, Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw-Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E, Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E, Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman-Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander JM, Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D, Genomics England Research Consortium, Becker, Esther BE, Németh, Andrea H
المصدر: Movement Disorders (2023) (In press).
مصطلحات موضوعية: Gillespie syndrome, IP3R1, ITPR1, cerebellum, next-generation sequencing, spinocerebellar ataxia type 29
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181855Test/
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6دورية أكاديمية
المؤلفون: Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, MacPherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Genomics England Research Consortium, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea
المصدر: Brain , Article awad240. (2023) (In press).
مصطلحات موضوعية: RFC1, CANVAS, ataxia, long-read sequencing, neuropathy, repeat expansions
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173615/1/Reilly_Normal%20and%20pathogenic%20variation%20of%20RFC1%20repeat%20expansions_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173615Test/
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7دورية أكاديمية
المؤلفون: Keleştemur, Taha, Németh, Zoltán H., Pacher, Pal, Beesley, Jennet, Robson, Simon C., Eltzschig, Holger K., Haskó, György
مصطلحات موضوعية: CD39, CD73, A2BR, Adenosine, Acute Lung Injury, Trauma Hemorrhagic Shock
وصف الملف: application/pdf
العلاقة: Respiratory research; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Keleştemur, T., Németh, Z. H., Pacher, P., Beesley, J., Robson, S. C., Eltzschig, H. K. . Haskó, G. (2023). Adenosine metabolized from extracellular ATP ameliorates organ injury by triggering A2BR signaling. Respiratory research, 24(1), 186-186. https://dx.doi.org/10.1186/s12931-023-02486-3Test; https://dx.doi.org/10.1186/s12931-023-02486-3Test; https://hdl.handle.net/20.500.12511/11234Test; 24; 186; Q1; 001027097600001; 2-s2.0-85164540530
الإتاحة: https://doi.org/20.500.12511/11234Test
https://doi.org/10.1186/s12931-023-02486-3Test
https://hdl.handle.net/20.500.12511/11234Test -
8دورية أكاديمية
المؤلفون: Garces, Pilar, Antoniades, Chrystalina A, Jardim, Laura B, Coarelli, Giulia, Dankova, Michaela, Traschütz, Andreas, Tarnutzer, Alexander A, Sobanska, Anna, Kovacs, Norbert, Ying, Sarah H, Gupta, Anoopum S, Perlman, Susan, Szmulewicz, David J, Pane, Chiara, Németh, Andrea H
المصدر: The Cerebellum Advance online publication, n/a (2023). doi:10.1007/s12311-023-01559-9
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Eye movement recordings, Hereditary ataxia, Oculomotor, Recommendations, Systematic review, Vestibular
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1473-4222; info:eu-repo/semantics/altIdentifier/issn/1473-4230; info:eu-repo/semantics/altIdentifier/pmid/pmid:37117990; https://pub.dzne.de/record/257888Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00516%22Test
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9دورية أكاديمية
المؤلفون: Beijer, Danique, Fogel, Brent L, Beltran, Sergi, Danzi, Matt C, Németh, Andrea H, Züchner, Stephan, Synofzik, Matthis, AGI Ataxia NGS genomics, platforms Working Group
المساهمون: Ashrafi, Mahmoud Reza, Bataller, Luis, Bertini, Enrico, Boesch, Sylvia, Buijsen, Ronald, Cassou, Emanuel, Chan, Edwin, Damásio, Joana, Donis, Karina, Elert-Dobkowska, Ewelina, Elsayed, Liena, Espinos, Carmen, Hanağasi, Haşmet, Heidari, Morteza, Nachbauer, Wolfgang, Oliveira, Jorge, Opal, Puneet, Paisan-Ruiz, Coro, Puccio, Hélène, Saccà, Francesco, Saraiva-Pereira, Maria Luiza, Schmidt, Thorsten, Schüle-Freyer, Rebecca, Stevanin, Giovanni, Wilke, Carlo, Yoon, Grace, Zach, Neta, Zanni, Ginevra, Adarmes, Astrid, Alhusaini, Saud
المصدر: The Cerebellum Advance online publication, n/a (2023). doi:10.1007/s12311-023-01537-1
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Cerebellar ataxia, Consensus, Genomics, High-throughput nucleotide sequencing, Information dissemination
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1473-4222; info:eu-repo/semantics/altIdentifier/pmid/pmid:36869969; info:eu-repo/semantics/altIdentifier/issn/1473-4230; https://pub.dzne.de/record/256591Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00349%22Test
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10دورية أكاديمية
المؤلفون: Garces, Pilar, Antoniades, Chrystalina A, Jardim, Laura B, Coarelli, Giulia, Dankova, Michaela, Traschuetz, Andreas, Tarnutzer, Alexander A, Sobanska, Anna, Kovacs, Norbert, Ying, Sarah H, Gupta, Anoopum S, Perlman, Susan, Szmulewicz, David J, Pane, Chiara, Németh, Andrea H
المصدر: The Cerebellum Advance online publication, n/a (2023). doi:10.1007/s12311-023-01514-8
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Eye movement recordings, Hereditary ataxia, Oculomotor, Recommendations, Systematic review, Vestibular
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:36640220; info:eu-repo/semantics/altIdentifier/issn/1473-4222; info:eu-repo/semantics/altIdentifier/issn/1473-4230; https://pub.dzne.de/record/169393Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00157%22Test
النص الكامل