Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation

por Maharaj, Mandat, Skidmore, David L., Croul, Sidney E., Brake, David J., Lochmuller, Hanns
Publicado 2022

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

por Imran, Syed Ali, Aldahmani, Khaled A, Penney, Lynette, Croul, Sidney E, Clarke, David B, Collier, David M, Iacovazzo, Donato, Korbonits, Márta
Publicado 2018

Clinical Outcomes and Patient-Matched Molecular Composition of Relapsed Medulloblastoma

por Kumar, Rahul, Smith, Kyle S., Deng, Maximilian, Terhune, Colt, Robinson, Giles W., Orr, Brent A., Liu, Anthony P. Y., Lin, Tong, Billups, Catherine A., Chintagumpala, Murali, Bowers, Daniel C., Hassall, Timothy E., Hansford, Jordan R., Khuong-Quang, Dong Anh, Crawford, John R., Bendel, Anne E., Gururangan, Sridharan, Schroeder, Kristin, Bouffet, Eric, Bartels, Ute, Fisher, Michael J., Cohn, Richard, Partap, Sonia, Kellie, Stewart J., McCowage, Geoffrey, Paulino, Arnold C., Rutkowski, Stefan, Fleischhack, Gudrun, Dhall, Girish, Klesse, Laura J., Leary, Sarah, Nazarian, Javad, Kool, Marcel, Wesseling, Pieter, Ryzhova, Marina, Zheludkova, Olga, Golanov, Andrey V., McLendon, Roger E., Packer, Roger J., Dunham, Christopher, Hukin, Juliette, Fouladi, Maryam, Faria, Claudia C., Pimentel, Jose, Walter, Andrew W., Jabado, Nada, Cho, Yoon-Jae, Perreault, Sebastien, Croul, Sidney E., Zapotocky, Michal, Hawkins, Cynthia, Tabori, Uri, Taylor, Michael D., Pfister, Stefan M., Klimo, Paul, Boop, Frederick A., Ellison, David W., Merchant, Thomas E., Onar-Thomas, Arzu, Korshunov, Andrey, Jones, David T. W., Gajjar, Amar, Ramaswamy, Vijay, Northcott, Paul A.
Publicado 2021

TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

por Remke, Marc, Ramaswamy, Vijay, Peacock, John, Shih, David J. H., Koelsche, Christian, Northcott, Paul A., Hill, Nadia, Cavalli, Florence M. G., Kool, Marcel, Wang, Xin, Mack, Stephen C., Barszczyk, Mark, Morrissy, A. Sorana, Wu, Xiaochong, Agnihotri, Sameer, Luu, Betty, Jones, David T. W., Garzia, Livia, Dubuc, Adrian M., Zhukova, Nataliya, Vanner, Robert, Kros, Johan M., French, Pim J., Van Meir, Erwin G., Vibhakar, Rajeev, Zitterbart, Karel, Chan, Jennifer A., Bognár, László, Klekner, Almos, Lach, Boleslaw, Jung, Shin, Saad, Ali G., Liau, Linda M., Albrecht, Steffen, Zollo, Massimo, Cooper, Michael K., Thompson, Reid C., Delattre, Oliver O., Bourdeaut, Franck, Doz, François F., Garami, Miklós, Hauser, Peter, Carlotti, Carlos G., Van Meter, Timothy E., Massimi, Luca, Fults, Daniel, Pomeroy, Scott L., Kumabe, Toshiro, Ra, Young Shin, Leonard, Jeffrey R., Elbabaa, Samer K., Mora, Jaume, Rubin, Joshua B., Cho, Yoon-Jae, McLendon, Roger E., Bigner, Darell D., Eberhart, Charles G., Fouladi, Maryam, Wechsler-Reya, Robert J., Faria, Claudia C., Croul, Sidney E., Huang, Annie, Bouffet, Eric, Hawkins, Cynthia E., Dirks, Peter B., Weiss, William A., Schüller, Ulrich, Pollack, Ian F., Rutkowski, Stefan, Meyronet, David, Jouvet, Anne, Fèvre-Montange, Michelle, Jabado, Nada, Perek-Polnik, Marta, Grajkowska, Wieslawa A., Kim, Seung-Ki, Rutka, James T., Malkin, David, Tabori, Uri, Pfister, Stefan M., Korshunov, Andrey, von Deimling, Andreas, Taylor, Michael D.
Publicado 2013