Endothelial activation and inflammation biomarkers in children and adolescents with sickle cell disease von Hatzipantelis, Emmanuil S., Pana, Zoe Dorothea, Gombakis, N., Taparkou, A., Tzimouli, V., Kleta, D., Zafeiriou, D. J., Garipidou, V., Kanakoudi, F., Athanassiou, M.

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Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease von Biegstraaten, M., Cox, T.M., Belmatoug, N., Berger, M.G., Collin-Histed, T., Vom Dahl, S., Di Rocco, M., Fraga, C., Giona, F., Giraldo, P., Hasanhodzic, M., Hughes, D.A., Iversen, P.O., Kiewiet, A.I., Lukina, E., Machaczka, M., Marinakis, T., Mengel, E., Pastores, G.M., Plöckinger, U., Rosenbaum, H., Serratrice, C., Symeonidis, A., Szer, J., Timmerman, J., Tylki-Szymańska, A., Weisz Hubshman, M., Zafeiriou, D.I., Zimran, A., Hollak, C.E.M.

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All naturally occurring autoantibodies against the NMDA receptor subunit NR1 have pathogenic potential irrespective of epitope and immunoglobulin class von Castillo-Gómez, E, Oliveira, B, Tapken, D, Bertrand, S, Klein-Schmidt, C, Pan, H, Zafeiriou, P, Steiner, J, Jurek, B, Trippe, R, Prüss, H, Zimmermann, W-H, Bertrand, D, Ehrenreich, H, Hollmann, M

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Baseline neutrophil–lymphocyte ratio (NLR) is associated with survival and response to treatment with second-line chemotherapy for advanced prostate cancer independent of baseline... von Lorente, D., Mateo, J., Templeton, A.J., Zafeiriou, Z., Bianchini, D., Ferraldeschi, R., Bahl, A., Shen, L., Su, Z., Sartor, O., de Bono, J.S.

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CHD1 loss sensitizes prostate cancer to DNA damaging therapy by promoting error-prone double-strand break repair von Shenoy, T.R., Boysen, G., Wang, M.Y., Xu, Q.Z., Guo, W., Koh, F.M., Wang, C., Zhang, L.Z., Wang, Y., Gil, V., Aziz, S., Christova, R., Rodrigues, D.N., Crespo, M., Rescigno, P., Tunariu, N., Riisnaes, R., Zafeiriou, Z., Flohr, P., Yuan, W., Knight, E., Swain, A., Ramalho-Santos, M., Xu, D.Y., de Bono, J., Wu, H.

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Integrative Clinical Genomics of Advanced Prostate Cancer von Robinson, Dan, Van Allen, Eliezer M., Wu, Yi-Mi, Schultz, Nikolaus, Lonigro, Robert J., Mosquera, Juan-Miguel, Montgomery, Bruce, Taplin, Mary-Ellen, Pritchard, Colin C., Attard, Gerhardt, Beltran, Himisha, Abida, Wassim, Bradley, Robert K., Vinson, Jake, Cao, Xuhong, Vats, Pankaj, Kunju, Lakshmi P., Hussain, Maha, Feng, Felix Y., Tomlins, Scott A., Cooney, Kathleen A., Smith, David C., Brennan, Christine, Siddiqui, Javed, Mehra, Rohit, Chen, Yu, Rathkopf, Dana E., Morris, Michael J., Solomon, Stephen B., Durack, Jeremy C., Reuter, Victor E., Gopalan, Anuradha, Gao, Jianjiong, Loda, Massimo, Lis, Rosina T., Bowden, Michaela, Balk, Stephen P., Gaviola, Glenn, Sougnez, Carrie, Gupta, Manaswi, Yu, Evan Y., Mostaghel, Elahe A., Cheng, Heather H., Mulcahy, Hyojeong, True, Lawrence D., Plymate, Stephen R., Dvinge, Heidi, Ferraldeschi, Roberta, Flohr, Penny, Miranda, Susana, Zafeiriou, Zafeiris, Tunariu, Nina, Mateo, Joaquin, Perez-Lopez, Raquel, Demichelis, Francesca, Robinson, Brian D., Schiffman, Marc, Nanus, David M., Tagawa, Scott T., Sigaras, Alexandros, Eng, Kenneth W., Elemento, Olivier, Sboner, Andrea, Heath, Elisabeth I., Scher, Howard I., Pienta, Kenneth J., Kantoff, Philip, de Bono, Johann S., Rubin, Mark A., Nelson, Peter S., Garraway, Levi A., Sawyers, Charles L., Chinnaiyan, Arul M.

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A phase I dose-escalation study of enzalutamide in combination with the AKT inhibitor AZD5363 (capivasertib) in patients with metastatic castration-resistant prostate cancer von Kolinsky, M.P., Rescigno, P., Bianchini, D., Zafeiriou, Z., Mehra, N., Mateo, J., Michalarea, V., Riisnaes, R., Crespo, M., Figueiredo, I., Miranda, S., Nava Rodrigues, D., Flohr, P., Tunariu, N., Banerji, U., Ruddle, R., Sharp, A., Welti, J., Lambros, M., Carreira, S., Raynaud, F.I., Swales, K.E., Plymate, S., Luo, J., Tovey, H., Porta, N., Slade, R., Leonard, L., Hall, E., de Bono, J.S.

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Integrative Clinical Genomics of Advanced Prostate Cancer von Robinson, Dan, Van Allen, Eliezer M., Wu, Yi-Mi, Schultz, Nikolaus, Lonigro, Robert J., Mosquera, Juan-Miguel, Montgomery, Bruce, Taplin, Mary-Ellen, Pritchard, Colin C., Attard, Gerhardt, Beltran, Himisha, Abida, Wassim, Bradley, Robert K., Vinson, Jake, Cao, Xuhong, Vats, Pankaj, Kunju, Lakshmi P., Hussain, Maha, Feng, Felix Y., Tomlins, Scott A., Cooney, Kathleen A., Smith, David C., Brennan, Christine, Siddiqui, Javed, Mehra, Rohit, Chen, Yu, Rathkopf, Dana E., Morris, Michael J., Solomon, Stephen B., Durack, Jeremy C., Reuter, Victor E., Gopalan, Anuradha, Gao, Jianjiong, Loda, Massimo, Lis, Rosina T., Bowden, Michaela, Balk, Stephen P., Gaviola, Glenn, Sougnez, Carrie, Gupta, Manaswi, Yu, Evan Y., Mostaghel, Elahe A., Cheng, Heather H., Mulcahy, Hyojeong, True, Lawrence D., Plymate, Stephen R., Dvinge, Heidi, Ferraldeschi, Roberta, Flohr, Penny, Miranda, Susana, Zafeiriou, Zafeiris, Tunariu, Nina, Mateo, Joaquin, Perez-Lopez, Raquel, Demichelis, Francesca, Robinson, Brian D., Sboner, Andrea, Schiffman, Marc, Nanus, David M., Tagawa, Scott T., Sigaras, Alexandros, Eng, Kenneth W., Elemento, Olivier, Heath, Elisabeth I., Scher, Howard I., Pienta, Kenneth J., Kantoff, Philip, de Bono, Johann S., Rubin, Mark A., Nelson, Peter S., Garraway, Levi A., Sawyers, Charles L., Chinnaiyan, Arul M.

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Diffusion-weighted Imaging as a Treatment Response Biomarker for Evaluating Bone Metastases in Prostate Cancer: A Pilot Study von Perez-Lopez, Raquel, Mateo, Joaquin, Mossop, Helen, Blackledge, Matthew D, Collins, David J, Rata, Mihaela, Morgan, Veronica A, Macdonald, Alison, Sandhu, Shahneen, Lorente, David, Rescigno, Pasquale, Zafeiriou, Zafeiris, Bianchini, Diletta, Porta, Nuria, Hall, Emma, Leach, Martin O, de Bono, Johann S, Koh, Dow-Mu, Tunariu, Nina

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Androgen receptor expression in circulating tumour cells from castration-resistant prostate cancer patients treated with novel endocrine agents von Crespo, M, van Dalum, G, Ferraldeschi, R, Zafeiriou, Z, Sideris, S, Lorente, D, Bianchini, D, Rodrigues, D N, Riisnaes, R, Miranda, S, Figueiredo, I, Flohr, P, Nowakowska, K, de Bono, J S, Terstappen, L W M M, Attard, G

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Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis von Willemsen, Michèl A., Verbeek, Marcel M., Kamsteeg, Erik-Jan, de Rijk-van Andel, Johanneke F., Aeby, Alec, Blau, Nenad, Burlina, Alberto, Donati, Maria A., Geurtz, Ben, Grattan-Smith, Padraic J., Haeussler, Martin, Hoffmann, Georg F., Jung, Hans, de Klerk, Johannis B., van der Knaap, Marjo S., Kok, Fernando, Leuzzi, Vincenzo, de Lonlay, Pascale, Megarbane, Andre, Monaghan, Hugh, Renier, Willy O., Rondot, Pierre, Ryan, Monique M., Seeger, Jürgen, Smeitink, Jan A., Steenbergen-Spanjers, Gerry C., Wassmer, Evangeline, Weschke, Bernhard, Wijburg, Frits A., Wilcken, Bridget, Zafeiriou, Dimitrios I., Wevers, Ron A.

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Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins von Kirkham, Fenella J, Zafeiriou, Dimitrios, Howe, David, Czarpran, Philippa, Harris, Ashley, Gunny, Roxanna, Vollmer, Brigitte

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Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecula... von Hanein, Sylvain, Perrault, Isabelle, Gerber, Sylvie, Tanguy, Gaëlle, Barbet, Fabienne, Ducroq, Dominique, Calvas, Patrick, Dollfus, Hélène, Hamel, Christian, Lopponen, Tuija, Munier, Francis, Santos, Louisa, Shalev, Stavit, Zafeiriou, Dimitrios, Dufier, Jean‐Louis, Munnich, Arnold, Rozet, Jean‐Michel, Kaplan, Josseline

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Exome Sequencing and the Management of Neurometabolic Disorders von Tarailo-Graovac, Maja, Shyr, Casper, Ross, Colin J, Horvath, Gabriella A, Salvarinova, Ramona, Ye, Xin C, Zhang, Lin-Hua, Bhavsar, Amit P, Lee, Jessica J.Y, Drögemöller, Britt I, Abdelsayed, Mena, Alfadhel, Majid, Armstrong, Linlea, Baumgartner, Matthias R, Burda, Patricie, Connolly, Mary B, Cameron, Jessie, Demos, Michelle, Dewan, Tammie, Dionne, Janis, Evans, A. Mark, Friedman, Jan M, Garber, Ian, Lewis, Suzanne, Ling, Jiqiang, Mandal, Rupasri, Mattman, Andre, McKinnon, Margaret, Michoulas, Aspasia, Metzger, Daniel, Ogunbayo, Oluseye A, Rakic, Bojana, Rozmus, Jacob, Ruben, Peter, Sayson, Bryan, Santra, Saikat, Schultz, Kirk R, Selby, Kathryn, Shekel, Paul, Sirrs, Sandra, Skrypnyk, Cristina, Superti-Furga, Andrea, Turvey, Stuart E, Van Allen, Margot I, Wishart, David, Wu, Jiang, Wu, John, Zafeiriou, Dimitrios, Kluijtmans, Leo, Wevers, Ron A, Eydoux, Patrice, Lehman, Anna M, Vallance, Hilary, Stockler-Ipsiroglu, Sylvia, Sinclair, Graham, Wasserman, Wyeth W, van Karnebeek, Clara D

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2024 update: European consensus statement on gene therapy for spinal muscular atrophy von Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., van der Pol, W Ludo, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, Servais, Laurent

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Update on transcobalamin deficiency: clinical presentation, treatment and outcome von Trakadis, Y. J., Alfares, A., Bodamer, O. A., Buyukavci, M., Christodoulou, J., Connor, P., Glamuzina, E., Gonzalez-Fernandez, F., Bibi, H., Echenne, B., Manoli, I., Mitchell, J., Nordwall, M., Prasad, C., Scaglia, F., Schiff, M., Schrewe, B., Touati, G., Tchan, M. C., Varet, B., Venditti, C. P., Zafeiriou, D., Rupar, C. A., Rosenblatt, D. S., Watkins, D., Braverman, N.

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Arterial Ischemic Stroke Secondary to Cardiac Disease in Neonates and Children von Chung, Melissa G., Guilliams, Kristin P., Wilson, Jenny L., Beslow, Lauren A., Dowling, Michael M., Friedman, Neil R., Hassanein, Sahar M.A., Ichord, Rebecca, Jordan, Lori C., Mackay, Mark T., Rafay, Mubeen F., Rivkin, Michael, Torres, Marcela, Zafeiriou, Dimitrios, deVeber, Gabrielle, Fox, Christine K.

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ERF mutations reveal a balance of ETS factors controlling prostate oncogenesis von Bose, Rohit, Karthaus, Wouter R., Armenia, Joshua, Abida, Wassim, Iaquinta, Phillip J., Zhang, Zeda, Wongvipat, John, Wasmuth, Elizabeth V., Shah, Neel, Sullivan, Patrick S., Doran, Michael G., Wang, Ping, Patruno, Anna, Zhao, Yilin, Zheng, Deyou, Schultz, Nikolaus, Sawyers, Charles L.

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International Prevalence and Mechanisms of SARS-CoV-2 in Childhood Arterial Ischemic Stroke During the COVID-19 Pandemic von Beslow, Lauren A., Agner, Shannon C., Santoro, Jonathan D., Ram, Dipak, Wilson, Jenny L., Harrar, Dana, Appavu, Brian, Fraser, Stuart M., Rossor, Thomas, Torres, Marcela D., Kossorotoff, Manoëlle, Zuñiga Zambrano, Yenny C., Hernández-Chávez, Marta, Hassanein, Sahar M.A., Zafeiriou, Dimitrios, Dowling, Michael M., Kopyta, Ilona, Stence, Nicholas V., Bernard, Timothy J., Dlamini, Nomazulu

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P.186Two patients with PURA syndrome in a large cohort of patients with unexplained muscle disease von Mroczek, M., Töpf, A., Zafeiriou, D., Roos, A., Bartels, E., Kohlschmidt, N., Duff, J., Straub, V.

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