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.

Volltext

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

Volltext

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.

Volltext

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis von Fogh, Isabella, Ratti, Antonia, Gellera, Cinzia, Lin, Kuang, Tiloca, Cinzia, Moskvina, Valentina, Corrado, Lucia, Sorarù, Gianni, Cereda, Cristina, Corti, Stefania, Gentilini, Davide, Calini, Daniela, Castellotti, Barbara, Mazzini, Letizia, Querin, Giorgia, Gagliardi, Stella, Del Bo, Roberto, Conforti, Francesca L, Siciliano, Gabriele, Inghilleri, Maurizio, Saccà, Francesco, Bongioanni, Paolo, Penco, Silvana, Corbo, Massimo, Sorbi, Sandro, Filosto, Massimiliano, Ferlini, Alessandra, Di Blasio, Anna M, Signorini, Stefano, Shatunov, Aleksey, Jones, Ashley, Shaw, Pamela J, Morrison, Karen E, Farmer, Anne E, Van Damme, Philip, Robberecht, Wim, Chiò, Adriano, Traynor, Bryan J, Sendtner, Michael, Melki, Judith, Meininger, Vincent, Hardiman, Orla, Andersen, Peter M, Leigh, Nigel P, Glass, Jonathan D, Overste, Daniel, Diekstra, Frank P, Veldink, Jan H, van Es, Michael A, Shaw, Christopher E, Weale, Michael E, Lewis, Cathryn M, Williams, Julie, Brown, Robert H, Landers, John E, Ticozzi, Nicola, Ceroni, Mauro, Pegoraro, Elena, Comi, Giacomo P, D'Alfonso, Sandra, van den Berg, Leonard H, Taroni, Franco, Al-Chalabi, Ammar, Powell, John, Silani, Vincenzo

Volltext

Robotic Upper Limb Rehabilitation after Acute Stroke by NeReBot : Evaluation of Treatment Costs von Mario, Armani, Masiero, Stefano, Rosati, Giulio, Rizzello, Roberto, Ferlini, Gregorio, Patrizia, Poli

Volltext

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data von Matalonga, Leslie, Hernandez-Ferrer, Carles, Piscia, Davide, Schuele, Rebecca, Synofzik, Matthis, Topf, Ana, Vissers, Lisenka E. L. M., de Voer, Richarda, Tonda, Raul, Laurie, Steven, Fernandez-Callejo, Marcos, Pico, Daniel, Garcia-Linares, Carles, Papakonstantinou, Anastasios, Corvo, Alberto, Joshi, Ricky, Diez, Hector, Gut, Ivo, Hoischen, Alexander, Graessner, Holm, Beltran, Sergi

Volltext

Diagnostic approaches, aetiological agents and their associations with short‐term survival and laminitis in horses with acute diarrhoea admitted to referral institutions von Gomez, Diego E., Arroyo, Luis G., Schoster, Angelika, Renaud, David L., Kopper, Jamie J., Dunkel, Bettina, Byrne, David, Toribio, Ramiro E.

Volltext

263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Net... von Sarkozy, Anna, Quinlivan, Rosaline, Bourke, John P., Ferlini, Alessandra, Barthélémy, Inès, Bourke, John P., Cripe, Linda H, Reuben, Emily, Evangelista, Teresinha,  Ferlini, Alessandra, Florian, Anca, Gribnau, Josh, Gonzalez-Quereda, Lidia, Guglieri, Michela, Niks, Erik, Phadke, Rahul, Politano, Luisa, Quinlivan, Ros, Sarkozy, Anna, Vissing, John, Voermans, Nicol, Vroom, Elizabeth, Pietrusz, Aleksandra, Fortunato, Fernanda, Houwen, Saskia

Volltext

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) von Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara-Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F, Kölbel, Heike, Roos, Andreas, Horvath, Rita

Volltext

Natural History of Vanishing White Matter von Hamilton, Eline M. C., van der Lei, Hannemieke D. W., Lourenço, Charles M., Naidu, Sakkubai, Mierzewska, Hanna, de Vet, Henrica C. W., Uitdehaag, Bernard M. J., Lissenberg‐Witte, Birgit I., Aldhalaan, H., Alves, D., Appleton, R., Arslan, E.A., Baethmann, M., Banwell, B., Barbot, C., Bertini, E., Bley, A., Bollen, L., Boltshauser, E., Bower, S., Bravo Oro, A., Campos, M.M., Carr, L., Chan, A.K.J., Clarke, A., Crow, Y., Csányi, B., Del Rossario Aldao, M., D'Hooghe, M., El Helou, J, Fallon, P., Ferlini, A., Ferro, J.M., Fluss, J., Fontenelle, L., Garone, C., Geldhoff, M., Glamuzina, E., Góes, F., Gonzalez, V., Guarda, C., Gulati, S., Güler, S., Horvath, R., Jagadeesh, S., Kaczorowska, M., Kankirawatana, P., Karall, D., King, M.D., Krägeloh‐Mann, I., Lehman, A., Liptai, Z., Livingston, J.H., Maes, M., Majumdar, A., Mandel, H., McEntagart, M., Morton, R., Moura de Souza, C.F., Mundy, H., Naess, K., Naismith, K., Newton, R.W., Noetzel, M.J., O'Brien, B, Okálová, K., Østergaard, J.R., Pato Pato, A., Pera, J., Perlman, S., Philippart, M., Régal, L., Rice, C.M., Rossignol, E., Rubin, J.P., Salvi, F., Sampaio, H., Sánchez Herrero, J., Santos, E., Sessa, M., Sharma, S., Shearn, J., Shoffner, J., Skranes, J.S., Sparagana, S.P., Storey, E., Sztriha, L., Tatli, B., Tekturk, P., Tennison, M., Tirupathi, S., Toledo Bravo de Laguna, L., Tuna, M.A., Valverde, A., van Coster, R., Vasconcelos, M., Vogt, H., von Kleist‐Retzow, J.C., Wong, S.S.N., Yavuz, H.

Volltext

Biodegradable-Polymer or Durable-Polymer Stents in Patients at High Bleeding Risk: A Randomized, Open-Label Clinical Trial von Valgimigli, Marco, Wlodarczak, Adrian, Tölg, Ralph, Merkely, Béla, Kelbæk, Henning, Legutko, Jacek, Galli, Stefano, Godin, Matthieu, Toth, Gabor G, Lhermusier, Thibault, Honton, Benjamin, Dietrich, Peter Laurenz, Stammen, Francis, Ferdinande, Bert, Silvain, Johanne, Capodanno, Davide, Cayla, Guillaume

Volltext

Acute coronary syndromes during the first and the second wave of COVID-19 von Ferlini, Marco, Castini, Diego, Visconti, Luigi Oltrona, Carugo, Stefano, Carugo, Stefano, Ferlini, Marco, Visconti, Luigi Oltrona, Castini, Diego, Ferrante, Giulia, Marenzi, Gancarlo, Montorfano, Matteo, Savonitto, Stefano, D'Urbano, Maurizio, Lettieri, Corrado, Cuccia, Claudio

Volltext

Age and sex prevalence estimate of Joubert syndrome in Italy von Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola

Volltext

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome von Brancati, Francesco, Camerota, Letizia, Colao, Emma, Vega-Warner, Virginia, Zhao, Xiangzhong, Zhang, Ruixiao, Bottillo, Irene, Castori, Marco, Caglioti, Alfredo, Sangiuolo, Federica, Novelli, Giuseppe, Perrotti, Nicola, Otto, Edgar A

Volltext

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biolo... 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.

Volltext

Cardiac involvement at presentation in patients hospitalized with COVID-19 and their outcome in a tertiary referral hospital in Northern Italy von Ghio, Stefano, Baldi, Enrico, Vicentini, Alessandro, Lenti, Marco Vincenzo, Di Sabatino, Antonio, Di Matteo, Angela, Zuccaro, Valentina, Piloni, Davide, Corsico, Angelo, Gnecchi, Massimiliano, Speciale, Francesco, Sabena, Anna, Oltrona Visconti, Luigi, Perlini, Stefano

Volltext

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity von Matalonga, Leslie, Laurie, Steven, Papakonstantinou, Anastasios, Piscia, Davide, Mereu, Elisabetta, Bullich, Gemma, Thompson, Rachel, Horvath, Rita, Pérez-Jurado, Luis, Riess, Olaf, Gut, Ivo, van Ommen, Gert-Jan, Lochmüller, Hanns, Beltran, Sergi, Renieri, Alessandra, Dursun, Ali, Matilla-Duenas, Antoni, Cormand, Bru, Rivolta, Carlo, Ayuso, Carmen, Espinós, Carmen, Scerri, Christian, Yalnizoglu, Dilek, Soler, Doriette, Morava, Eva, Barbetti, Fabrizio, Forzano, Francesca, Mari, Francesca, Muntoni, Francesco, Tort, Frederic, Houlden, Henry James, Tejada, Maria-Isabel, Senderek, Jan, Benitez, Javier, De La Calle, Javier Corral, Serra, Jordi, Millán, José Ma, Segovia, Jose, Gimeno Blanes, Juan Ramon, Armstrong, Judith, Ozgul, Koksal, Vilarinho, Laura, Montoliu, Lluis, Posada, Manuel, Mencarelli, Maria Antonietta, Mora, Marina, Bianchi, Paola, Seeman, Pavel, Elliott, Perry M., Ferlini, Alessandra, Brice, Alexis, Wirth, Brunhilde, Hanna, Mike, Tabrizi, Sarah, Klockgether, Thomas, Timmerman, Vincent, Straub, Volker, Kurul, Semra Hiz, Oktay, Yavuz, Gungor, Serdal, Yaramis, Ahmet, Yis, Uluc, Macaya, Alfons, Ribes, Antonia, Pujol, Aurora, Lázaro, Conxi, Grinberg, Daniel, Tizzano, Eduardo, Cardellach, Francesc, Palau, Francesc, Milà, Montse, Gallano, Pia, Artuch, Rafael, MartiSeves, Ramon, Villanueva, Gonzalo, Vidal, Silvia, Garrabou, Gloria, Balcells, Susanna, Urreizti, Roser, López, Estrella, Cuscó, Ivon, Valenzuela, Irene, Sabater, Maria

Volltext

QTc Interval and Mortality in a Population of SARS-2-CoV Infected Patients von Vicentini, Alessandro, Masiello, Lucrezia, D’Amore, Sabato, Baldi, Enrico, Ghio, Stefano, Savastano, Simone, Sanzo, Antonio, Di Matteo, Angela, Seminari, Elena Maria, Lenti, Marco Vincenzo, Bosio, Matteo, Petracci, Barbara, Frigerio, Laura, Sabena, Anna, Tavazzi, Guido, Oltrona Visconti, Luigi, Rordorf, Roberto

Volltext

A regional audit system for stillbirth: a way to better understand the phenomenon von Po', Gaia, Monari, Francesca, Zanni, Filippo, Grandi, Giovanni, Lupi, Camilla, Facchinetti, Fabio

Volltext

Clinical governance of patients with acute coronary syndromes von Leonardi, Sergio, Montalto, Claudio, Carrara, Greta, Casella, Gianni, Grosseto, Daniele, Galazzi, Marco, Repetto, Alessandra, Tua, Lorenzo, Portolan, Monica, Ottani, Filippo, Galvani, Marcello, Gentile, Leandro, Cardelli, Laura Sofia, De Servi, Stefano, Antonelli, Andrea, De Ferrari, Gaetano Maria, Visconti, Luigi Oltrona, Campo, Gianluca

Volltext