ABSTRACT 187: DEXMEDETOMIDINE INFUSION IN A PEDIATRIC POPULATION von Piva, J., Andreolio, C., Ferlini, R., Pinheiro, F., Baldassol, E., Lago, P., Librelato, G., Piccoli, R., Trotta, E.A., Carvalho, P.R.

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ABSTRACT 822: PERTUSSIS SYNDROME A PREVENTABLE INFECTIOUS DISEASE DEMANDING EMERGENCY AND PICU RESOURCES von Piva, J., Pinheiro, F., Ferlini, R., Picolli, R., Lago, P., Baldasso, E., Andreolio, C., Trotta, E.A., Carvalho, P.R.

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ABSTRACT 459: HIGH SURVIVAL RATE IS THE RULE FOR CHILDREN WITH ACUTE VIRAL BRONCHIOLITIS SUBMITTED TO MECHANICAL VENTILATION von Piva, J., Ferlini, R., Pinheiro, F., Baldasso, E., Andreolio, C., Lago, P., Giorgio, C., Carvalho, P., Trotta, E.

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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield von Ankala, Arunkanth, da Silva, Cristina, Gualandi, Francesca, Ferlini, Alessandra, Bean, Lora J. H., Collins, Christin, Tanner, Alice K., Hegde, Madhuri R.

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Increased circulating hematopoietic and endothelial progenitor cells in the early phase of acute myocardial infarction von Massa, Margherita, Rosti, Vittorio, Ferrario, Maurizio, Campanelli, Rita, Ramajoli, Isabella, Rosso, Roberta, De Ferrari, Gaetano M., Ferlini, Marco, Goffredo, Lucio, Bertoletti, Alessandra, Klersy, Catherine, Pecci, Alessandro, Moratti, Remigio, Tavazzi, Luigi

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Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients von De Gregori, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, M C, Anichini, C, Ferrero, G B, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previderé, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, Guerneri, S, Lalatta, F, Zelante, L, Romano, C, Fichera, M, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, A, Cifuentes, F, Van Esch, H, Backx, L, Schinzel, A, Vermeesch, J R, Zuffardi, O

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Dual antiplatelet therapy after TAVR: A drop in the bucket? von Ferlini, Marco, Mauri, Silvia, Rossini, Roberta

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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology von Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Westra, Harm-Jan, Deelen, Patrick, Hannon, Eilis, Dolzhenko, Egor, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Smith, Bradley N., Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Lauria, Giuseppe, Corti, Stefania, Sorarù, Gianni, Filosto, Massimiliano, Chiò, Adriano, Calvo, Andrea, Brunetti, Maura, Nefussy, Beatrice, Osmanovic, Alma, Lerner, Yossef, Gotkine, Marc, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Salachas, François, Mora Pardina, Jesus S., Rojas-García, Ricardo, Ross, Jay P., Weishaupt, Jochen H., Brenner, David, Bensimon, Gilbert, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Rademakers, Rosa, Lieb, Wolfgang, Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Traynor, Bryan J., Mitne Neto, Miguel, Cauchi, Ruben J., Gaur, Nayana, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Graff, Caroline, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Furlong, Sarah, Mathers, Susan, Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Wallace, Leanne, Pinto, Susana, Rouleau, Guy A., Breen, Gerome, Brown, Robert H., Andersen, Peter M., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Wray, Naomi R., Van Damme, Philip, Veldink, Jan H.

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Recommendations for whole genome sequencing in diagnostics for rare diseases von Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W, Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C, Dincer, Yasemin, Eck, Sebastian H, van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G, Weiss, Marjan M

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder von Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.

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Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains von Di Rienzo, M, Antonioli, M, Fusco, C, Liu, Y, Mari, M, Orhon, I, Refolo, G, Germani, F, Corazzari, M, Romagnoli, A, Ciccosanti, F, Mandriani, B, Pellico, M T, De La Torre, R, Ding, H, Dentice, M, Neri, M, Ferlini, A, Reggiori, F, Kulesz-Martin, M, Piacentini, M, Merla, G, Fimia, G M

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A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy von Goemans, Nathalie, Mercuri, Eugenio, Belousova, Elena, Komaki, Hirofumi, Dubrovsky, Alberto, McDonald, Craig M., Kraus, John E., Lourbakos, Afrodite, Lin, Zhengning, Campion, Giles, Wang, Susanne X., Campbell, Craig, Araujo, A., Bertini, E., Born, P., Cances, C., Chabrol, B., Chae, J.-H., Colomer Oferil, J., Comi, G.P., Cuisset, J.-M., D'Anjou, G., Desguerre, I., Erazo Torricelli, R., Escobar, R., Feder, D., Ferlini, A., Giugliani, R., Henricson, E., Herczegfalvi, A., Jong, Y.-J., Kimura, S., Kirschner, J.-B., Kleinsteuber, K., Kostera-Pruszczyk, A., Kudr, M., Mueller-Felber, W., Niks, E.H., Ogata, K., Palermo, C., Pane, M., Pascual, I., Pereon, Y., Raskin, S., Rasmussen, M., Reed, U., Schara, U., Selby, K., Sobreira, C., Takeshima, Y., Vilchez Padilla, J.J., Vita, G., Vondracek, P., Wiegand, G., Wilichowski, E.

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Hypertonic sodium lactate infusion reduces vasopressor requirements and biomarkers of brain and cardiac injury after experimental cardiac arrest von Annoni, Filippo, Su, Fuhong, Peluso, Lorenzo, Lisi, Ilaria, Caruso, Enrico, Pischiutta, Francesca, Gouvea Bogossian, Elisa, Garcia, Bruno, Njimi, Hassane, Vincent, Jean-Louis, Gaspard, Nicolas, Ferlini, Lorenzo, Creteur, Jacques, Zanier, Elisa R, Taccone, Fabio Silvio

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Mother and daughter with Kenny-Caffey syndrome: the adult phenotype von Tonelli, L., Sanchini, M., Margutti, A., Buldrini, B., Superti-Furga, A., Ferlini, A., Selvatici, R., Bigoni, S.

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Managing toxicities associated with immune checkpoint inhibitors: consensus recommendations from the Society for Immunotherapy of Cancer (SITC) Toxicity Management Working Group von Puzanov, I, Diab, A, Abdallah, K, Bingham, 3rd, C O, Brogdon, C, Dadu, R, Hamad, L, Kim, S, Lacouture, M E, LeBoeuf, N R, Lenihan, D, Onofrei, C, Shannon, V, Sharma, R, Silk, A W, Skondra, D, Suarez-Almazor, M E, Wang, Y, Wiley, K, Kaufman, H L, Ernstoff, M S

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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy von Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Suchiman, H. Eka, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmueller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke, Dubrovsky, Alberto, Kornberg, Andrew, North, Kathryn, Ryan, Monique, Webster, Richard, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Kolski, Hanna, Vishwanathan, V., Chidambaranathan, S., Nevo, Yoram, Gorni, Ksenija, Carlo, Jose, Tulinius, Mar, Lotze, Timothy, Bertorini, Tulio E., Day, John W., Karachunski, Peter, Clemens, Paula R., Abdel-Hamid, Hoda, Teasley, Jean, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Connolly, Anne M., Pestronk, Alan, Abresch, R. T., Henricson, Erik K., Joyce, Nanette C., Cnaan, Avital, Gordish-Dressmsn, Heather, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula, Duong, Tina

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Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies von Abbs, Stephen, Tuffery-Giraud, Sylvie, Bakker, Egbert, Ferlini, Alessandra, Sejersen, Thomas, Mueller, Clemens R

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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking von Schindler, Roland F R, Scotton, Chiara, Zhang, Jianguo, Passarelli, Chiara, Ortiz-Bonnin, Beatriz, Simrick, Subreena, Schwerte, Thorsten, Poon, Kar-Lai, Fang, Mingyan, Rinné, Susanne, Froese, Alexander, Nikolaev, Viacheslav O, Grunert, Christiane, Müller, Thomas, Tasca, Giorgio, Sarathchandra, Padmini, Drago, Fabrizio, Dallapiccola, Bruno, Rapezzi, Claudio, Arbustini, Eloisa, Di Raimo, Francesca Romana, Neri, Marcella, Selvatici, Rita, Gualandi, Francesca, Fattori, Fabiana, Pietrangelo, Antonello, Li, Wenyan, Jiang, Hui, Xu, Xun, Bertini, Enrico, Decher, Niels, Wang, Jun, Brand, Thomas, Ferlini, Alessandra

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Long-term Outcomes after Angioplasty of Isolated, Below-the-knee Arteries in Diabetic Patients with Critical Limb Ischaemia von Ferraresi, R, Centola, M, Ferlini, M, Da Ros, R, Caravaggi, C, Assaloni, R, Sganzaroli, A, Pomidossi, G, Bonanomi, C, Danzi, G.B

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Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy von Aartsma-Rus, Annemieke, Hegde, Madhuri, Ben-Omran, Tawfeg, Buccella, Filippo, Ferlini, Alessandra, Gallano, Pia, Howell, R. Rodney, Leturcq, France, Martin, Ann S., Potulska-Chromik, Anna, Saute, Jonas A., Schmidt, Wolfgang M., Sejersen, Thomas, Tuffery-Giraud, Sylvie, Uyguner, Zehra Oya, Witcomb, Luci A., Yau, Shu, Nelson, Stanley F.

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