Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

por Pipis, Menelaos, Feely, Shawna M E, Polke, James M, Skorupinska, Mariola, Perez, Laura, Shy, Rosemary R, Laura, Matilde, Morrow, Jasper M, Moroni, Isabella, Pisciotta, Chiara, Taroni, Franco, Vujovic, Dragan, Lloyd, Thomas E, Acsadi, Gyula, Yum, Sabrina W, Lewis, Richard A, Finkel, Richard S, Herrmann, David N, Day, John W, Li, Jun, Saporta, Mario, Sadjadi, Reza, Walk, David, Burns, Joshua, Muntoni, Francesco, Ramchandren, Sindhu, Horvath, Rita, Johnson, Nicholas E, Züchner, Stephan, Pareyson, Davide, Scherer, Steven S, Rossor, Alexander M, Shy, Michael E, Reilly, Mary M
Publicado 2021

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

por Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., Maher, Eamonn R.
Publicado 2018

Increased stomach cancer risk following radiotherapy for testicular cancer

por Hauptmann, M, Fossa, S D, Stovall, M, van Leeuwen, F E, Johannesen, T B, Rajaraman, P, Gilbert, E S, Smith, S A, Weathers, R E, Aleman, B M P, Andersson, M, Curtis, R E, Dores, G M, Fraumeni, J F, Hall, P, Holowaty, E J, Joensuu, H, Kaijser, M, Kleinerman, R A, Langmark, F, Lynch, C F, Pukkala, E, Storm, H H, Vaalavirta, L, van den Belt-Dusebout, A W, Travis, L B, Morton, L M
Publicado 2015

Fertility Among Female Survivors of Childhood, Adolescent, and Young Adult Cancer: Protocol for Two Pan-European Studies (PanCareLIFE)

por van den Berg, Marleen, van Dijk, Marloes, Byrne, Julianne, Campbell, Helen, Berger, Claire, Borgmann-Staudt, Anja, Calaminus, Gabriele, Dirksen, Uta, Winther, Jeanette F, Fossa, Sophie D, Grabow, Desiree, Grandage, Victoria L, van den Heuvel-Eibrink, Marry M, Kaiser, Melanie, Kepak, Tomas, Kremer, Leontien C, Kruseova, Jarmila, Kuehni, Claudia E, Lambalk, Cornelis B, van Leeuwen, Flora E, Leiper, Alison, Modan-Moses, Dalit, Morsellino, Vera, Spix, Claudia, Kaatsch, Peter, van Dulmen-den Broeder, Eline
Publicado 2018

Longitudinal neuroanatomical and cognitive progression of posterior cortical atrophy

por Firth, Nicholas C, Primativo, Silvia, Marinescu, Razvan-Valentin, Shakespeare, Timothy J, Suarez-Gonzalez, Aida, Lehmann, Manja, Carton, Amelia, Ocal, Dilek, Pavisic, Ivanna, Paterson, Ross W, Slattery, Catherine F, Foulkes, Alexander J M, Ridha, Basil H, Gil-Néciga, Eulogio, Oxtoby, Neil P, Young, Alexandra L, Modat, Marc, Cardoso, M Jorge, Ourselin, Sebastien, Ryan, Natalie S, Miller, Bruce L, Rabinovici, Gil D, Warrington, Elizabeth K, Rossor, Martin N, Fox, Nick C, Warren, Jason D, Alexander, Daniel C, Schott, Jonathan M, Yong, Keir X X, Crutch, Sebastian J
Publicado 2019

Increased pancreatic cancer risk following radiotherapy for testicular cancer

por Hauptmann, Michael, Børge Johannesen, Tom, Gilbert, Ethel S, Stovall, Marilyn, van Leeuwen, Flora E, Rajaraman, Preetha, Smith, Susan A, Weathers, Rita E, Aleman, Berthe M P, Andersson, Michael, Curtis, Rochelle E, Dores, Graça M, Fraumeni Jr, Joseph F, Hall, Per, Holowaty, Eric J, Joensuu, Heikki, Kaijser, Magnus, Kleinerman, Ruth A, Langmark, Frøydis, Lynch, Charles F, Pukkala, Eero, Storm, Hans H, Vaalavirta, Leila, van den Belt-Dusebout, Alexandra W, Morton, Lindsay M, Fossa, Sophie D, Travis, Lois B
Publicado 2016

COVID-19 Outbreak and Cancer Radiotherapy Disruption in Lombardy, Northern Italy

por Jereczek-Fossa, B.A., Palazzi, M.F., Soatti, C.P., Cazzaniga, L.F., Ivaldi, G.B., Pepa, M., Amadori, M., Antognoni, P., Arcangeli, S., Buffoli, A., Beltramo, G., Berlinghieri, S., Bignardi, M., Bracelli, S., Bruschieri, L., Castiglioni, S., Catalano, G., Di Muzio, N., Fallai, C., Fariselli, L., Filippi, A.R., Gramaglia, A., Italia, C., Lombardi, F., Magrini, S.M., Nava, S., Orlandi, E., Pasinetti, N., Sbicego, E.L., Scandolaro, L., Scorsetti, M., Stiglich, F., Tonoli, S., Tortini, R., Valdagni, R., Vavassori, V., Marvaso, G.
Publicado 2020

ACCELERATE: A Patient-Powered Natural History Study Design Enabling Clinical and Therapeutic Discoveries in a Rare Disorder

por Pierson, Sheila K., Khor, Johnson S., Ziglar, Jasira, Liu, Amy, Floess, Katherine, NaPier, Erin, Gorzewski, Alexander M., Tamakloe, Mark-Avery, Powers, Victoria, Akhter, Faizaan, Haljasmaa, Eric, Jayanthan, Raj, Rubenstein, Arthur, Repasky, Mileva, Elenitoba-Johnson, Kojo, Ruth, Jason, Jacobs, Bette, Streetly, Matthew, Angenendt, Linus, Patier, Jose Luis, Ferrero, Simone, Zinzani, Pier Luigi, Terriou, Louis, Casper, Corey, Jaffe, Elaine, Hoffmann, Christian, Oksenhendler, Eric, Fosså, Alexander, Srkalovic, Gordan, Chadburn, Amy, Uldrick, Thomas S., Lim, Megan, van Rhee, Frits, Fajgenbaum, David C.
Publicado 2020

Response-adapted omission of radiotherapy and comparison of consolidation chemotherapy in children and adolescents with intermediate-stage and advanced-stage classical Hodgkin lymp...

por Mauz-Körholz, Christine, Landman-Parker, Judith, Balwierz, Walentyna, Ammann, Roland A, Anderson, Richard A, Attarbaschi, Andische, Bartelt, Jörg M, Beishuizen, Auke, Boudjemaa, Sabah, Cepelova, Michaela, Claviez, Alexander, Daw, Stephen, Dieckmann, Karin, Fernández-Teijeiro, Ana, Fosså, Alexander, Gattenlöhner, Stefan, Georgi, Thomas, Hjalgrim, Lisa L, Hraskova, Andrea, Karlén, Jonas, Kluge, Regine, Kurch, Lars, Leblanc, Thiery, Mann, Georg, Montravers, Francoise, Pears, Jean, Pelz, Tanja, Rajić, Vladan, Ramsay, Alan D, Stoevesandt, Dietrich, Uyttebroeck, Anne, Vordermark, Dirk, Körholz, Dieter, Hasenclever, Dirk, Wallace, William Hamish
Publicado 2022

The NLO multileg working group: summary report

por Bern, Z., Bernicot, C., Binoth, T., Boudjema, F., Britto, R., Campbell, John M., Czakon, M., Denner, Ansgar, Dissertori, Guenther, Dittmaier, S., Dixon, Lance J., Duplancic, G., Ellis, R.Keith, Frederix, R., Gehrmann, T., Gehrmann-De Ridder, A., Giele, W.T., Glover, E.W.N., Guillet, J.P., Heinrich, G., Kallweit, S., Karg, S., Kauer, N., Kosower, D.A., Krauss, F., Kunszt, Z., Le, N.D., Mastrolia, P., Mitov, A., Moch, S., Odaka, Shigeru, Ossola, G., Papadopoulos, C.G., Pilon, E., Pittau, R., Reiter, T., Sanguinetti, G., Schumann, S., Schwinn, C., Skands, Peter Z., Soper, D.E., Stenzel, Hasko, Uwer, P., Weinzierl, S., Zanderighi, G.
Publicado 2008

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

por Meeter, Lieke H., Dopper, Elise G., Jiskoot, Lize C., Sanchez‐Valle, Raquel, Graff, Caroline, Benussi, Luisa, Ghidoni, Roberta, Pijnenburg, Yolande A., Borroni, Barbara, Galimberti, Daniela, Laforce, Robert Jr, Masellis, Mario, Vandenberghe, Rik, Ber, Isabelle Le, Otto, Markus, van Minkelen, Rick, Papma, Janne M., Rombouts, Serge A., Balasa, Mircea, Öijerstedt, Linn, Jelic, Vesna, Dick, Katrina M., Cash, David M., Harding, Sophie R., Jorge Cardoso, M., Ourselin, Sebastien, Rossor, Martin N., Padovani, Alessandro, Scarpini, Elio, Fenoglio, Chiara, Tartaglia, Maria C., Lamari, Foudil, Barro, Christian, Kuhle, Jens, Rohrer, Jonathan D., Teunissen, Charlotte E., van Swieten, John C.
Publicado 2016

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

por Cortese, Andrea, Tozza, Stefano, Yau, Wai Yan, Rossi, Salvatore, Beecroft, Sarah J, Jaunmuktane, Zane, Dyer, Zoe, Ravenscroft, Gianina, Lamont, Phillipa J, Mossman, Stuart, Chancellor, Andrew, Maisonobe, Thierry, Pereon, Yann, Cauquil, Cecile, Colnaghi, Silvia, Mallucci, Giulia, Curro, Riccardo, Tomaselli, Pedro J, Thomas-Black, Gilbert, Sullivan, Roisin, Efthymiou, Stephanie, Rossor, Alexander M, Laurá, Matilde, Pipis, Menelaos, Horga, Alejandro, Polke, James, Kaski, Diego, Horvath, Rita, Chinnery, Patrick F, Marques, Wilson, Tassorelli, Cristina, Devigili, Grazia, Leonardis, Lea, Wood, Nick W, Bronstein, Adolfo, Giunti, Paola, Züchner, Stephan, Stojkovic, Tanya, Laing, Nigel, Roxburgh, Richard H, Houlden, Henry, Reilly, Mary M
Publicado 2020

RFC1 expansions are a common cause of idiopathic sensory neuropathy

por Currò, Riccardo, Salvalaggio, Alessandro, Tozza, Stefano, Gemelli, Chiara, Dominik, Natalia, Galassi Deforie, Valentina, Magrinelli, Francesca, Castellani, Francesca, Vegezzi, Elisa, Businaro, Pietro, Callegari, Ilaria, Pichiecchio, Anna, Cosentino, Giuseppe, Alfonsi, Enrico, Marchioni, Enrico, Colnaghi, Silvia, Gana, Simone, Valente, Enza Maria, Tassorelli, Cristina, Efthymiou, Stephanie, Facchini, Stefano, Carr, Aisling, Laura, Matilde, Rossor, Alexander M, Manji, Hadi, Lunn, Michael P, Pegoraro, Elena, Santoro, Lucio, Grandis, Marina, Bellone, Emilia, Beauchamp, Nicholas J, Hadjivassiliou, Marios, Kaski, Diego, Bronstein, Adolfo M, Houlden, Henry, Reilly, Mary M, Mandich, Paola, Schenone, Angelo, Manganelli, Fiore, Briani, Chiara, Cortese, Andrea
Publicado 2021

Meta-analysis identifies four new loci associated with testicular germ cell tumor

por Chung, Charles C., Kanetsky, Peter A., Wang, Zhaoming, Hildebrandt, Michelle A. T., Koster, Roelof, Skotheim, Rolf I., Kratz, Christian P., Turnbull, Clare, Cortessis, Victoria K., Bakken, Anne C., Bishop, D. Timothy, Cook, Michael B., Erickson, R. Loren, Fosså, Sophie D., Jacobs, Kevin B., Korde, Larissa A., Kraggerud, Sigrid M., Lothe, Ragnhild A., Loud, Jennifer T., Rahman, Nazneen, Skinner, Eila C., Thomas, Duncan C., Wu, Xifeng, Yeager, Meredith, Schumacher, Fredrick R., Greene, Mark H., Schwartz, Stephen M., McGlynn, Katherine A., Chanock, Stephen J., Nathanson, Katherine L.
Publicado 2013

Back to (new) normality—A CODRAL/AIRO-L survey on cancer radiotherapy in Lombardy during Italian COVID-19 phase 2

por Jereczek-Fossa, Barbara Alicja, Pepa, Matteo, Marvaso, Giulia, Isaksson, Johannes Lars, Soatti, Carlo Pietro, Cazzaniga, Luigi Franco, Ivaldi, Giovanni Battista, Amadori, Marcello, Antognoni, Paolo, Arcangeli, Stefano, Buffoli, Alberto, Beltramo, Giancarlo, Bignardi, Mario, Bracelli, Stefano, Bruschieri, Lorenza, Castiglioni, Simona, Catalano, Gianpiero, Di Muzio, Nadia, Fallai, Carlo, Fariselli, Laura, Filippi, Andrea Riccardo, Gramaglia, Alberto, Italia, Corrado, Lombardi, Fabrizio, Magrini, Stefano Maria, Nava, Simonetta, Orlandi, Ester, Pasinetti, Nadia, Sbicego, Elena Lara, Scandolaro, Luciano, Scorsetti, Marta, Stiglich, Francesco, Tortini, Roberto, Valdagni, Riccardo, Vavassori, Vittorio, Tonoli, Sandro, Palazzi, Mauro Filippo
Publicado 2020

Somatic mutations of KIT in familial testicular germ cell tumours

por Rapley, E A, Hockley, S, Warren, W, Johnson, L, Huddart, R, Crockford, G, Forman, D, Leahy, M G, Oliver, D T, Tucker, K, Friedlander, M, Phillips, K-A, Hogg, D, Jewett, M A S, Lohynska, R, Daugaard, G, Richard, S, Heidenreich, A, Geczi, L, Bodrogi, I, Olah, E, Ormiston, W J, Daly, P A, Looijenga, L H J, Guilford, P, Aass, N, Fosså, S D, Heimdal, K, Tjulandin, S A, Liubchenko, L, Stoll, H, Weber, W, Einhorn, L, Weber, B L, McMaster, M, Greene, M H, Bishop, D T, Easton, D, Stratton, M R
Publicado 2004

Consensus classification of posterior cortical atrophy

por Crutch, Sebastian J., Schott, Jonathan M., Rabinovici, Gil D., Murray, Melissa, Snowden, Julie S., van der Flier, Wiesje M., Dickerson, Bradford C., Vandenberghe, Rik, Ahmed, Samrah, Bak, Thomas H., Boeve, Bradley F., Butler, Christopher, Cappa, Stefano F., Ceccaldi, Mathieu, de Souza, Leonardo Cruz, Dubois, Bruno, Felician, Olivier, Galasko, Douglas, Graff-Radford, Jonathan, Graff-Radford, Neill R., Hof, Patrick R., Krolak-Salmon, Pierre, Lehmann, Manja, Magnin, Eloi, Mendez, Mario F., Nestor, Peter J., Onyike, Chiadi U., Pelak, Victoria S., Pijnenburg, Yolande, Primativo, Silvia, Rossor, Martin N., Ryan, Natalie S., Scheltens, Philip, Shakespeare, Timothy J., González, Aida Suárez, Tang-Wai, David F., Yong, Keir X. X., Carrillo, Maria, Fox, Nick C.
Publicado 2017

Spatial patterns of neuroimaging biomarker change in individuals from families with autosomal dominant Alzheimer disease: a longitudinal study

por Gordon, Brian A., Blazey, Tyler M., Su, Yi, Hari-Raj, Amrita, Dincer, Aylin, Flores, Shaney, Christensen, Jon, McDade, Eric, Wang, Guoqiao, Xiong, Chengjie, Cairns, Nigel J., Hassenstab, Jason, Marcus, Daniel S., Fagan, Anne M., Jack, Clifford R., Hornbeck, Russ C., Paumier, Katrina L., Ances, Beau M., Berman, Sarah B., Brickman, Adam M., Cash, David M., Chhatwal, Jasmeer P., Correia, Stephen, Förster, Stefan, Fox, Nick C., Graff-Radford, Neill R., la Fougère, Christian, Levin, Johannes, Masters, Colin L., Rossor, Martin N., Salloway, Stephen, Saykin, Andrew J., Schofield, Peter R., Thompson, Paul M., Weiner, Michael M., Holtzman, David M., Raichle, Marcus E., Morris, John C., Bateman, Randall J., Benzinger, Tammie L.S.
Publicado 2018

S101: OMISSION OF RADIOTHERAPY IN PRIMARY MEDIASTINAL B-CELL LYMPHOMA PATIENTS FOLLOWING COMPLETE METABOLIC RESPONSE TO STANDARD IMMUNOCHEMOTHERAPY: RESULTS OF THE IELSG37 RANDOMIS...

por Martelli, Maurizio, Ceriani, Luca, Zucca, Emanuele, Kryachok, Irina, Ciccone, Giovannino, Ricardi, Umberto, Botto, Barbara, Balzarotti, Monica, Tucci, Alessandra, Veronica Usai, Sara, Pennese, Elsa, Arcaini, Luca, Dabrowska-Iwanicka, Anna, José María Ferreri, Andrés, Marli, Francesco, Zhao, Weili, Hodgson, David, Ionescu, Codruta, Rigacci, Luigi, Cellini, Claudia, Stelitano, Caterina, Zaja, Francesco, Guarini, Attilio, Spina, Michele, Fossa, Alexander, Cwynarski, Kate, Mikhaeel, N. George, Jerkeman, Mats, Janíková, Andrea, Huettmann, Andreas, Silva, Maria Gomes Da, Stevens, Don, Petrucci, Luigi, Barrington, Sally, Malkowski, Bogdan, Metser, Ur, Versari, Annibale, Bagni, Oreste, Chauvie, Stephane, Cozens, Kelly, Perticone, Sonia, Ielmini, Nicoletta, Cavalli, Franco, Gosodarowicz, Mary, Johnson, Peter W., Davies, Andrew
Publicado 2023

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

por Wray, Selina, Self, Matthew, Lewis, Patrick A., Taanman, Jan-Willem, Ryan, Natalie S., Mahoney, Colin J., Liang, Yuying, Devine, Michael J., Sheerin, Una-Marie, Houlden, Henry, Morris, Huw R., Healy, Daniel, Marti-Masso, Jose-Felix, Preza, Elisavet, Barker, Suzanne, Sutherland, Margaret, Corriveau, Roderick A., D'Andrea, Michael, Schapira, Anthony H. V., Uitti, Ryan J., Guttman, Mark, Opala, Grzegorz, Jasinska-Myga, Barbara, Puschmann, Andreas, Nilsson, Christer, Espay, Alberto J., Slawek, Jaroslaw, Gutmann, Ludwig, Boeve, Bradley F., Boylan, Kevin, Stoessl, A. Jon, Ross, Owen A., Maragakis, Nicholas J., Van Gerpen, Jay, Gerstenhaber, Melissa, Gwinn, Katrina, Dawson, Ted M., Isacson, Ole, Marder, Karen S., Clark, Lorraine N., Przedborski, Serge E., Finkbeiner, Steven, Rothstein, Jeffrey D., Wszolek, Zbigniew K., Rossor, Martin N., Hardy, John
Publicado 2012