A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial

por Crow, Rebecca A., Hart, Kimberly A., McDermott, Michael P., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y., Morandi, Lucia, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Flanigan, Kevin M., Kuntz, Nancy L., Mah, Jean K., Morrison, Leslie, Darras, Basil T., von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M., Vita, Giuseppe, Barohn, Richard J., Finkel, Richard S., Wicklund, Matthew, McMillan, Hugh J., Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W., Howard, James F., Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C., Bushby, Kate, Guglieri, Michela
Publicado 2018

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

por Guglieri, Michela, Clemens, Paula R., Perlman, Seth J., Smith, Edward C., Horrocks, Iain, Finkel, Richard S., Mah, Jean K., Deconinck, Nicolas, Goemans, Nathalie, Haberlova, Jana, Straub, Volker, Mengle-Gaw, Laurel J., Schwartz, Benjamin D., Harper, Amy D., Shieh, Perry B., De Waele, Liesbeth, Castro, Diana, Yang, Michelle L., Ryan, Monique M., McDonald, Craig M., Tulinius, Mar, Webster, Richard, McMillan, Hugh J., Kuntz, Nancy L., Rao, Vashmi K., Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M., Selby, Kathryn A., Monduy, Migvis, Nevo, Yoram, Vilchez-Padilla, Juan J., Nascimento-Osorio, Andres, Niks, Erik H., de Groot, Imelda J.M., Katsalouli, Marina, James, Meredith K., van den Anker, Johannes, Damsker, Jesse M., Ahmet, Alexandra, Ward, Leanne M., Jaros, Mark, Shale, Phil, Dang, Utkarsh J., Hoffman, Eric P.
Publicado 2022

Acute Phase CD8+ T Lymphocytes against Alternate Reading Frame Epitopes Select for Rapid Viral Escape during SIV Infection

por Walsh, Andrew D., Bimber, Benjamin N., Das, Arpita, Piaskowski, Shari M., Rakasz, Eva G., Bean, Alexander T., Mudd, Philip A., Ericsen, Adam J., Wilson, Nancy A., Hughes, Austin L., O'Connor, David H., Maness, Nicholas J.
Publicado 2013

Novel high‐affinity EGFRvIII‐specific chimeric antigen receptor T cells effectively eliminate human glioblastoma

por Abbott, Rebecca C, Verdon, Daniel J, Gracey, Fiona M, Hughes‐Parry, Hannah E, Iliopoulos, Melinda, Watson, Katherine A, Mulazzani, Matthias, Luong, Kylie, D’Arcy, Colleen, Sullivan, Lucy C, Kiefel, Ben R, Cross, Ryan S, Jenkins, Misty R
Publicado 2021

Novel high‐affinity EGFRvIII‐specific chimeric antigen receptor T cells effectively eliminate human glioblastoma

por Abbott, Rebecca C, Verdon, Daniel J, Gracey, Fiona M, Hughes‐Parry, Hannah E, Iliopoulos, Melinda, Watson, Katherine A, Mulazzani, Matthias, Luong, Kylie, D’Arcy, Colleen, Sullivan, Lucy C, Kiefel, Ben R, Cross, Ryan S, Jenkins, Misty R
Publicado 2021

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

por Pairo-Castineira, Erola, Rawlik, Konrad, Bretherick, Andrew D., Qi, Ting, Wu, Yang, Nassiri, Isar, McConkey, Glenn A., Zechner, Marie, Klaric, Lucija, Griffiths, Fiona, Oosthuyzen, Wilna, Kousathanas, Athanasios, Richmond, Anne, Millar, Jonathan, Russell, Clark D., Malinauskas, Tomas, Thwaites, Ryan, Morrice, Kirstie, Keating, Sean, Maslove, David, Nichol, Alistair, Semple, Malcolm G., Knight, Julian, Shankar-Hari, Manu, Summers, Charlotte, Hinds, Charles, Horby, Peter, Ling, Lowell, McAuley, Danny, Montgomery, Hugh, Openshaw, Peter J. M., Begg, Colin, Walsh, Timothy, Tenesa, Albert, Flores, Carlos, Riancho, José A., Rojas-Martinez, Augusto, Lapunzina, Pablo, Yang, Jian, Ponting, Chris P., Wilson, James F., Vitart, Veronique, Abedalthagafi, Malak, Luchessi, Andre D., Parra, Esteban J., Cruz, Raquel, Carracedo, Angel, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Pereira, Alexandre C., Law, Andy, Fairfax, Benjamin, Hendry, Sara Clohisey, Baillie, J. Kenneth
Publicado 2023

Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

por Pairo-Castineira, Erola, Rawlik, Konrad, Bretherick, Andrew D., Qi, Ting, Wu, Yang, Nassiri, Isar, McConkey, Glenn A., Zechner, Marie, Klaric, Lucija, Griffiths, Fiona, Oosthuyzen, Wilna, Kousathanas, Athanasios, Richmond, Anne, Millar, Jonathan, Russell, Clark D., Malinauskas, Tomas, Thwaites, Ryan, Morrice, Kirstie, Keating, Sean, Maslove, David, Nichol, Alistair, Semple, Malcolm G., Knight, Julian, Shankar-Hari, Manu, Summers, Charlotte, Hinds, Charles, Horby, Peter, Ling, Lowell, McAuley, Danny, Montgomery, Hugh, Openshaw, Peter J. M., Begg, Colin, Walsh, Timothy, Tenesa, Albert, Flores, Carlos, Riancho, José A., Rojas-Martinez, Augusto, Lapunzina, Pablo, Yang, Jian, Ponting, Chris P., Wilson, James F., Vitart, Veronique, Abedalthagafi, Malak, Luchessi, Andre D., Parra, Esteban J., Cruz, Raquel, Carracedo, Angel, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Pereira, Alexandre C., Law, Andy, Fairfax, Benjamin, Hendry, Sara Clohisey, Baillie, J. Kenneth
Publicado 2023

Enhanced antitumor immunity through sequential targeting of PI3Kδ and LAG3

por Lauder, Sarah Nicol, Smart, Kathryn, Kersemans, Veerle, Allen, Danny, Scott, Jake, Pires, Ana, Milutinovic, Stefan, Somerville, Michelle, Smart, Sean, Kinchesh, Paul, Lopez-Guadamillas, Elena, Hughes, Ellyn, Jones, Emma, Scurr, Martin, Godkin, Andrew, Friedman, Lori S, Vanhaesebroeck, Bart, Gallimore, Awen
Publicado 2020

A Method to Assess Adherence in Inhaler Use through Analysis of Acoustic Recordings of Inhaler Events

por D'Arcy, Shona, MacHale, Elaine, Seheult, Jansen, Holmes, Martin S., Hughes, Cian, Sulaiman, Imran, Hyland, Deirdre, O'Reilly, Conor, Glynn, Senan, Al-Zaabi, Thekra, McCourt, John, Taylor, Terence, Keane, Frank, Killane, Isabelle, Reilly, Richard B., Costello, Richard W.
Publicado 2014

Trivalent PROTACs enhance protein degradation via combined avidity and cooperativity

por Imaide, Satomi, Riching, Kristin M., Makukhin, Nikolai, Vetma, Vesna, Whitworth, Claire, Hughes, Scott J., Trainor, Nicole, Mahan, Sarah D., Murphy, Nancy, Cowan, Angus D., Chan, Kwok-Ho, Craigon, Conner, Testa, Andrea, Maniaci, Chiara, Urh, Marjeta, Daniels, Danette L., Ciulli, Alessio
Publicado 2021

Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene

por Venables, Julian P, Strain, Lisa, Routledge, Danny, Bourn, David, Powell, Helen M, Warwicker, Paul, Diaz-Torres, Martha L, Sampson, Anne, Mead, Paul, Webb, Michelle, Pirson, Yves, Jackson, Michael S, Hughes, Anne, Wood, Katrina M, Goodship, Judith A, Goodship, Timothy H. J
Publicado 2006

Unraveling the clinicopathological features driving the emergence of ESR1 mutations in metastatic breast cancer

por Kuang, Yanan, Siddiqui, Bilal, Hu, Jiani, Pun, Matthew, Cornwell, MacIntosh, Buchwalter, Gilles, Hughes, Melissa E., Wagle, Nikhil, Kirschmeier, Paul, Jänne, Pasi A., Paweletz, Cloud P., Lin, Nancy U., Krop, Ian E., Barry, William T., Winer, Eric P., Brown, Myles, Jeselsohn, Rinath
Publicado 2018

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

por Graham, Robert J, Muntoni, Francesco, Hughes, Imelda, Yum, Sabrina W, Kuntz, Nancy L, Yang, Michele L, Byrne, Barry J, Prasad, Suyash, Alvarez, Rachel, Genetti, Casie A, Haselkorn, Tmirah, James, Emma S, LaRusso, Laurie B, Noursalehi, Mojtaba, Rico, Salvador, Beggs, Alan H
Publicado 2020

Results from a test‐and‐treat study for influenza among residents of homeless shelters in King County, WA: A stepped‐wedge cluster‐randomized trial

por Rogers, Julia H., Casto, Amanda M., Nwanne, Gift, Link, Amy C., Martinez, Miguel A., Nackviseth, Callista, Wolf, Caitlin R., Hughes, James P., Englund, Janet A., Sugg, Nancy, Uyeki, Timothy M., Han, Peter D., Pfau, Brian, Shendure, Jay, Chu, Helen Y.
Publicado 2023

Emergence of differentially regulated pathways associated with the development of regional specificity in chicken skin

por Chang, Kai-Wei, Huang, Nancy A, Liu, I-Hsuan, Wang, Yi-Hui, Wu, Ping, Tseng, Yen-Tzu, Hughes, Michael W, Jiang, Ting Xin, Tsai, Mong-Hsun, Chen, Chien-Yu, Oyang, Yen-Jen, Lin, En-Chung, Chuong, Cheng-Ming, Lin, Shau-Ping
Publicado 2015

Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus

por van Zuydam, Natalie R., Ladenvall, Claes, Voight, Benjamin F., Strawbridge, Rona J., Fernandez-Tajes, Juan, Rayner, N. William, Robertson, Neil R., Mahajan, Anubha, Vlachopoulou, Efthymia, Goel, Anuj, Kleber, Marcus E., Nelson, Christopher P., Kwee, Lydia Coulter, Esko, Tõnu, Mihailov, Evelin, Mägi, Reedik, Milani, Lili, Fischer, Krista, Kanoni, Stavroula, Kumar, Jitender, Song, Ci, Hartiala, Jaana A., Pedersen, Nancy L., Perola, Markus, Gieger, Christian, Peters, Annette, Qu, Liming, Willems, Sara M., Doney, Alex S.F., Morris, Andrew D., Zheng, Yan, Sesti, Giorgio, Hu, Frank B., Qi, Lu, Laakso, Markku, Thorsteinsdottir, Unnur, Grallert, Harald, van Duijn, Cornelia, Reilly, Muredach P., Ingelsson, Erik, Deloukas, Panos, Kathiresan, Sek, Metspalu, Andres, Shah, Svati H., Sinisalo, Juha, Salomaa, Veikko, Hamsten, Anders, Samani, Nilesh J., März, Winfried, Hazen, Stanley L., Watkins, Hugh, Saleheen, Danish, Morris, Andrew P., Colhoun, Helen M., Groop, Leif, McCarthy, Mark I., Palmer, Colin N.A.
Publicado 2020

AIDS virus–specific CD8(+) T lymphocytes against an immunodominant cryptic epitope select for viral escape

por Maness, Nicholas J., Valentine, Laura E., May, Gemma E., Reed, Jason, Piaskowski, Shari M., Soma, Taeko, Furlott, Jessica, Rakasz, Eva G., Friedrich, Thomas C., Price, David A., Gostick, Emma, Hughes, Austin L., Sidney, John, Sette, Alessandro, Wilson, Nancy A., Watkins, David I.
Publicado 2007

Vascular dimorphism ensured by regulated proteoglycan dynamics favors rapid umbilical artery closure at birth

por Nandadasa, Sumeda, Szafron, Jason M, Pathak, Vai, Murtada, Sae-Il, Kraft, Caroline M, O'Donnell, Anna, Norvik, Christian, Hughes, Clare, Caterson, Bruce, Domowicz, Miriam S, Schwartz, Nancy B, Tran-Lundmark, Karin, Veigl, Martina, Sedwick, David, Philipson, Elliot H, Humphrey, Jay D, Apte, Suneel S
Publicado 2020

A protocol for a randomised clinical trial of the effect of providing feedback on inhaler technique and adherence from an electronic device in patients with poorly controlled sever...

por Sulaiman, Imran, Mac Hale, Elaine, Holmes, Martin, Hughes, Cian, D'Arcy, Shona, Taylor, Terrence, Rapcan, Viliam, Doyle, Frank, Breathnach, Aoife, Seheult, Jansen, Murphy, Desmond, Hunt, Eoin, Lane, Stephen J, Sahadevan, Abhilash, Crispino, Gloria, Diette, Greg, Killane, Isabelle, Reilly, Richard B, Costello, Richard W
Publicado 2016