المؤلفون: Australian Government, National Health and Medical Research Council (Australia), Pawsey Supercomputing Research Centre, Western Australian Government, Dofash, Lein N. H., Monahan, Gavin V., Servián Morilla, E., Rivas Infante, Eloy, Faiz, Fathimath, Sullivan, Patricia, Oates, Emily, Clayton, Joshua, Taylor, Rhonda L., Davis, Mark R., Beilharz, Traude, Laing, Nigel G., Cabrera-Serrano, Macarena, Ravenscroft, Gianina

مصطلحات الفهرس: artículo

URL: http://hdl.handle.net/10261/333092
https://api.elsevier.com/content/abstract/scopus_id/85150666554
https://doi.org/10.1093/hmg/ddac272
Dofash, Lein N. H.; Monahan, Gavin V.; Servián Morilla, E.; Rivas Infante, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L.; Davis, Mark R.; Beilharz, Traude; Laing, Nigel G.; Cabrera-Serrano, Macarena; Ravenscroft, Gianina; 2022; A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism [Preprint]; MedRxiv; https://doi.org/10.1101/2022.08.08.22278402
https://doi.org/10.1093/hmg/ddac272
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المؤلفون: Australian National University, National Health and Medical Research Council (Australia), Ministry of Science and Technology of the People's Republic of China, Ahmed, Noorya Yasmin, Knowles, Rhys, Liu, Lixinyu, Yan, Yiming, Li, Xiaohan, Schumann, Ulrike, Wang, Yumeng, Sontani, Yovina, Reynolds, Nathan, Natoli, Riccardo, Wen, Jiayu, Pino, Isabel del, Mi, Da, Dehorter, Nathalie

مصطلحات الفهرس: artículo

URL: http://hdl.handle.net/10261/335130
https://doi.org/10.3389/fcell.2023.1112062
Publisher's version
The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI 10.3389/fcell.2023.1112062
The datasets presented in this study can be found in online repositories. The names of the repository/repositories and accession number(s) can be found below: Gene Expression Omnibus accession number: GSE222383 and GSE109796.
https://doi.org/10.3389/fcell.2023.1112062
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المؤلفون: European Commission, Instituto de Salud Carlos III, CSIC - Patronato Juan de la Cierva de Investigación Científica y Técnica, National Institute of Arthritis and Musculoskeletal and Skin Diseases (US), Instituto Nacional de Salud (España), National Health and Medical Research Council (Australia), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Ortiz-Fernández, Lourdes, Carmona, Elio G., Kerick, Martin, Lyons, Paul, Carmona, Francisco D, López Mejías, Raquel, Khor, Chiea Chuen, Grayson, Peter C., Tombetti, Enrico, Jiang, L., Direskeneli, Haner, Saruhan-Direskeneli, Güher, Callejas-Rubio, José Luis, Vaglio, Augusto, Salvarani, Carlo, Hernández-Rodríguez, José, Cid, María C., Morgan, Ann W., Merkel, Peter A., Burgner, David, Smith, K.G.C., González-Gay, M. A., Sawalha, Amr H., Martin, Javier, Márquez, Ana

مصطلحات الفهرس: artículo

URL: http://hdl.handle.net/10261/354769
http://dx.doi.org/10.1136/ard-2022-223697
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المؤلفون: Bill & Melinda Gates Foundation, Minderoo Foundation, Royal Children's Hospital Foundation, National Health and Medical Research Council (Australia), Swiss National Science Foundation, European Molecular Biology Laboratory, Medical Research Council (UK), Health Services Union New South Wales Branch, Peter Sowerby Foundation, SA Health, Insurance Advisernet Foundation, NAB Foundation, Calvert-Jones Foundation, Modara Pines Charitable Foundation, United Health Foundation, Epworth HealthCare, Victoria State Government, Pittet, Laure F., Messina, Nicole L., Orsini, Francesca, Moore, Cecilia L., Abruzzo, Veronica, Barry, Simone, Bonnici, Rhian, Bonten, Marc, Campbell, John, Croda, Julio, Dalcolmo, Margareth, Gardiner, Kaya, Gell, Grace, Germano, Susie, Gomes-Silva, Adriano, Goodall, Casey, Gwee, Amanda, Jamieson, Tenaya, Jardim, Bruno, Kollmann, Tobias R., Lacerda, Marcus V. G., Lee, Katherine J., Lucas, Michaela, Lynn, David J., Manning, Laurens, Marshall, Helen S., McDonald, Ellie, Munns, Craig F., Nicholson, Suellen, O’Connell, Abby, Oliveira, Roberto D. de, Perlen, Susan, Perrett, Kirsten P., Prat-Aymerich, Cristina, Richmond, Peter C., Rodríguez-Baño, Jesús, Santos, Glauce dos, Silva, Patricia V. da, Teo, Jia Wei, Villanueva, Paola, Warris, Adilia, Wood, Nicholas J., Davidson, Andrew, Curtis, Nigel, BRACE Trial Consortium Group

مصطلحات الفهرس: artículo

URL: http://hdl.handle.net/10261/352736
http://dx.doi.org/10.1056/NEJMoa2212616
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المؤلفون: National Institutes of Health (US), National Health and Medical Research Council (Australia), Council of Australian University Librarians, Dwyer, Dominic B., Chand, Ganesh B., Pigoni, Alessandro, Khuntia, Adyasha, Wen, Junhao, Antoniades, Mathilde, Hwang, Gyujoon, Erus, Guray, Doshi, Jimit, Srinivasan, Dhivya, Varol, Erdem, Kahn, Rene S., Schnack, Hugo G., Meisenzahl, Eva, Wood, Stephen J., Zhuo, Chuanjun, Sotiras, Aristeidis, Shinohara, Russell T., Shou, Haochang, Fan, Yong, Schaulfelberger, Maristela, Rosa, Pedro, Lalousis, Paris A., Upthegrove, Rachel, Kaczkurkin, Antonia N., Moore, Tyler M., Nelson, Barnaby, Gur, Rachel E., Gur, Ruben C., Ritchie, Marylyn D., Satterthwaite, Theodore D., Murray, Robin M., Forti, Marta Di, Ciufolini, Simone, Zanetti, Marcus V., Wolf, Daniel H., Pantelis, Christos, Crespo-Facorro, Benedicto, Busatto, Geraldo F., Davatzikos, Christos, Koutsouleris, Nikolaos, Dazzan, Paola

مصطلحات الفهرس: Diagnostic markers, Neuroscience, artículo

URL: http://hdl.handle.net/10261/352507
https://doi.org/10.1038/s41380-023-02069-0
Publisher's version
The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1038/s41380-023-02069-0
https://doi.org/10.1038/s41380-023-02069-0
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المؤلفون: Bill & Melinda Gates Foundation, Minderoo Foundation, Royal Children's Hospital Foundation, Health Services Union New South Wales Branch, Peter Sowerby Foundation, SA Health, Insurance Advisernet Foundation, NAB Foundation, Calvert-Jones Foundation, Modara Pines Charitable Foundation, United Health Foundation, Epworth HealthCare, National Health and Medical Research Council (Australia), Swiss National Science Foundation, Pittet, Laure F., Moore, Cecilia L., McDonald, Ellie, Barry, Simone, Bonten, Marc, Campbell, John, Croda, Julio, Dalcolmo, Margareth, Davidson, Andrew, Douglas, Mark W., Gardiner, Kaya, Gwee, Amanda, Jardim, Bruno, Lacerda, Marcus V. G., Lucas, Michaela, Lynn, David J., Manning, Laurens, Oliveira, Roberto D. de, Perrett, Kirsten P., Prat-Aymerich, Cristina, Richmond, Peter C., Rocha, Jorge L., Rodríguez-Baño, Jesús, Warris, Adilia, Wood, Nicholas J., Messina, Nicole L., Curtis, Nigel, BRACE Trial Consortium Group

مصطلحات الفهرس: Herpes simplex virus, Cold sore, Herpes labialis, Bacille Calmette-Guérin, Mycobacterium bovis, Prevention, Secondary prophylaxis, Off-target effects, Non-specific effects, Heterologous immunity, artículo

URL: http://hdl.handle.net/10261/349798
https://doi.org/10.1016/j.eclinm.2023.102203
Publisher's version
https://doi.org/10.1016/j.eclinm.2023.102203
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المؤلفون: National Institutes of Health (US), UK Research and Innovation, German Research Foundation, Generalitat de Catalunya, Instituto de Salud Carlos III, National Science Foundation (US), Fundación Alonso Lozano, Fundación Alicia Koplowitz, European Commission, National Health and Medical Research Council (Australia), European Research Council, Australian Research Council, Ministero della Salute, Ministerio de Ciencia e Innovación (España), Comunidad de Madrid, Constantinides, Constantinos, Crespo-Facorro, Benedicto, Tordesillas-Gutiérrez, Diana, Walton, Esther

مصطلحات الفهرس: artículo

URL: http://hdl.handle.net/10261/349438
https://doi.org/10.1038/s41380-022-01897-w
Publisher's version
The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI 10.1038/s41380-022-01897-w
https://doi.org/10.1038/s41380-022-01897-w
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info:eu-repo/grantAgreement/EC/H2020/848158
info:eu-repo/grantAgreement/EC/H2020/677467
info:eu-repo/grantAgreement/EC/H2020/115916
B2017/BMD-3740/AGES-CM-2
info:eu-repo/grantAgreement/EC/FP7/241909
info:eu-repo/grantAgreement/EC/FP7/603196
info:eu-repo/grantAgreement/EC/FP7/602478

المؤلفون: National Health and Medical Research Council (Australia), Western Australian Government, Australian Government, Instituto de Salud Carlos III, Junta de Andalucía, University of Western Australia, European Commission, Mavillard, Fabiola [0000-0002-1460-0483], Paradas, Carmen [0000-0002-6917-2236], Cabrera-Serrano, Macarena [0000-0003-3109-6095], Mavillard, Fabiola, Servián Morilla, E., Dofash, Lein, Rojas-Marcos, Iñigo, Folland, Chiara, Monahan, Gavin, Gutierrez-Gutierrez, Gerardo, Rivas, Eloy, Hernández-Laín, Aurelio, Valladares, Amador, Cantero, Gloria, Morales, Jose M., Laing, Nigel G., Paradas, Carmen, Ravenscroft, Gianina, Cabrera-Serrano, Macarena

مصطلحات الفهرس: MAMDC2, COL6 disorders, Extracellular matrix, Muscular dystrophy, Subfascial muscle degeneration, artículo

URL: http://hdl.handle.net/10261/349235
https://doi.org/10.1093/brain/awad256
The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1093/brain/awad256
https://doi.org/10.1093/brain/awad256
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المؤلفون: Swedish Research Council, Knut and Alice Wallenberg Foundation, Swedish Cancer Society, Swedish Childhood Cancer Foundation, National Institute of Mental Health (US), Gladstone Institutes, National Institute on Drug Abuse (US), University College Dublin, National Human Genome Research Institute (US), National Institutes of Health (US), National Health and Medical Research Council (Australia), Juan, David [0000-0003-1912-9667], Marqués-Bonet, Tomàs [0000-0002-5597-3075], Muntané, Gerard [0000-0003-1541-8365], Navarro, Arcadi [0000-0003-2162-8246], Valenzuela, Alejandro [0000-0001-6120-6246], Sullivan, Patrick F., Meadows, Jennifer R. S., Gazal, Steven, Phan, BaDoi N., Li, Xue, Genereux, Diane P., Dong, Michael X., Bianchi, Matteo, Andrews, Gregory, Sakthikumar, Sharadha, Nordin, Jessika, Roy, Ananya, Christmas, Matthew J., Marinescu, Voichita D., Wang, Chao, Wallerman, Ola, Xue, James, Yao, Shuyang, Sun, Quan, Szatkiewicz, Jin, Wen, Jia, Huckins, Laura M., Lawler, Alyssa, Keough, Kathleen C., Zheng, Zhili, Zeng, Jian, Wray, Naomi R., Li, Yun, Johnson, Jessica, Chen, Jiawen, Zoonomia Consortium, Juan, David, Marqués-Bonet, Tomàs, Muntané, Gerard, Navarro, Arcadi, Serres-Armero, Aitor, Valenzuela, Alejandro, Paten, Benedict, Reilly, Steven K., Hughes, Graham M., Weng, Zhiping, Pollard, Katherine S., Pfenning, Andreas R., Forsberg-Nilsson, Karin, Karlsson, Elinor K., Lindblad-Toh, Kerstin

مصطلحات الفهرس: artículo

URL: http://hdl.handle.net/10261/348357
https://doi.org/10.1126/science.abn2937
https://doi.org/10.1126/science.abn2937
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المؤلفون: Universidad de Sevilla. Departamento de Bioquímica Vegetal y Biología Molecular, National Health and Medical Research Council. Australia, Australian Research Council, Junta de Andalucía, Ministerio de Ciencia e Innovación (MICIN). España, West, Danella L., Loughlin, Fionna E., Rivero Rodríguez, Francisco, Vankadari, Naveen, Velázquez Cruz, Alejandro, Corrales Guerrero, Laura, Díaz Moreno, Irene, Wilce, Jacqueline A.

مصطلحات الفهرس: Amyloid fibril, Liquid-liquid phase separation, Prion-like domain, RGG motif, RNA binding protein, RRM, TIA1, Zinc, info:eu-repo/semantics/article

URL: https://hdl.handle.net/11441/136543
https://doi.org/10.3389/fmolb.2022.960806
Frontiers in Molecular Biosciences, 9, 960806.
APP1105801
DP200102737
BIO198
US-1254317
P18- FR-3487
P18-HO-4091
PGC 2018-096049- BI00
PID2021-126663NB-I00
https://doi.org/10.3389/fmolb.2022.960806