Bibliotecas PUC-SP - Busca Integrada

European Reference Networks: developing a EUCERD opinion

Por Bushby Kate
Publicado no Orphanet Journal of Rare Diseases (2012-11-01)

Scope of centres of expertise for rare diseases in European countries where they exist

Por Rodwell Charlotte, Aymé Ségolène, Bushby Kate
Publicado no Orphanet Journal of Rare Diseases (2012-11-01)

Social deprivation in Duchenne muscular dystrophy: population based study

Por Bushby, Kate, Raybould, Simon, O'Donnell, Sara, Steele, James G
Publicado em 2001

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

Por Chiu, Yen-Hui, Hornsey, Mark A., Klinge, Lars, Jørgensen, Louise H., Laval, Steven H., Charlton, Richard, Barresi, Rita, Straub, Volker, Lochmüller, Hanns, Bushby, Kate
Publicado em 2009

Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies

Por Brown, Susan C., Torelli, Silvia, Brockington, Martin, Yuva, Yeliz, Jimenez, Cecilia, Feng, Lucy, Anderson, Louise, Ugo, Isabella, Kroger, Stephan, Bushby, Kate, Voit, Thomas, Sewry, Caroline, Muntoni, Francesco
Publicado em 2004

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Por Shatunov, Alexey, Olivé, Montse, Odgerel, Zagaa, Stadelmann-Nessler, Christine, Irlbacher, Kerstin, van Landeghem, Frank, Bayarsaikhan, Munkhuu, Lee, Hee-Suk, Goudeau, Bertrand, Chinnery, Patrick F, Straub, Volker, Hilton-Jones, David, Damian, Maxwell S, Kaminska, Anna, Vicart, Patrick, Bushby, Kate, Dalakas, Marinos C, Sambuughin, Nyamkhishig, Ferrer, Isidro, Goebel, Hans H, Goldfarb, Lev G
Publicado em 2009

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-conce...

Por Kinali, Maria, Arechavala-Gomeza, Virginia, Feng, Lucy, Cirak, Sebahattin, Hunt, David, Adkin, Carl, Guglieri, Michela, Ashton, Emma, Abbs, Stephen, Nihoyannopoulos, Petros, Garralda, Maria Elena, Rutherford, Mary, Mcculley, Caroline, Popplewell, Linda, Graham, Ian R, Dickson, George, Wood, Matthew JA, Wells, Dominic J, Wilton, Steve D, Kole, Ryszard, Straub, Volker, Bushby, Kate, Sewry, Caroline, Morgan, Jennifer E, Muntoni, Francesco
Publicado em 2009

An Imperfect Heat Shock Element and Different Upstream Sequences Are Required for the Seed-Specific Expression of a Small Heat Shock Protein Gene

Por Carranco, Raúl, Almoguera, Concepción, Jordano, Juan, Shu, Guoping, Pontieri, Vincenza, Dengler, Nancy G., Mets, Laurens J., Noguchi, Takahiro, Fujioka, Shozo, Choe, Sunghwa, Takatsuto, Suguru, Yoshida, Shigeo, Yuan, Heng, Feldmann, Kenneth A., Tax, Frans E., Leng, Qiang, Mercier, Richard W., Yao, Weizhe, Berkowitz, Gerald A., Kuriyama, Hideo, Martin, David N., Proebsting, William M., Hedden, Peter, Ait-Ali, Tahar, Frances, Shannon, Weller, James L., Reid, James B., Kendrick, Richard E., Kamiya, Yuji, Vanlerberghe, Greg C., Yip, Justine Y.H., Parsons, Hannah L., Hirose, Naoya, Yamaya, Tomoyuki, Ikeda, Yoshihisa, Koizumi, Nozomu, Kusano, Tomonobu, Sano, Hiroshi, Akashi, Tomoyoshi, Aoki, Toshio, Ayabe, Shin-ichi, Fleischer, Axel, O'Neill, Malcolm A., Ehwald, Rudolf, Stirnberg, Petra, Chatfield, Steven P., Leyser, H.M. Ottoline, Maxwell, Kate, Borland, Anne M., Haslam, Richard P., Helliker, Brent R., Roberts, Andrew, Griffiths, Howard, Joubès, Jérôme, Phan, Thi-Hai, Just, Daniel, Rothan, Christophe, Bergounioux, Catherine, Raymond, Philippe, Chevalier, Christian, Gebbing, Thomas, Schnyder, Hans, Matamoros, Manuel A., Moran, Jose F., Iturbe-Ormaetxe, Iñaki, Rubio, Maria C., Becana, Manuel, Borland, Anne M., Hartwell, James, Jenkins, Gareth I., Wilkins, Malcolm B., Nimmo, Hugh G., Utsumi, Yasuhiro, Sano, Yuzou, Funada, Ryo, Fujikawa, Seizo, Ohtani, Jun, Peters, Winfried S., Felle, Hubert H., Zhou, Huiqing, Wang, Hong Wei, Zhu, Ken, Sui, Sen Fang, Xu, Peilin, Yang, Shang Fa, Li, Ning, Corpas, Francisco J., Barroso, Juan B., Sandalio, Luisa M., Palma, José M., Lupiáñez, José A., del Río, Luis A., Bushby, Kate, Raybould, Simon, O'Donnell, Sara, Steele, James G, Sanderfoot, Anton A., Kovaleva, Valentina, Zheng, Haiyan, Raikhel, Natasha V., Wan, Xianchong, Zwiazek, Janusz J., Takahashi, Michiko, Yamaguchi, Hirotaka, Nakanishi, Hiromi, Shioiri, Takayuki, Nishizawa, Naoko-Kishi, Mori, Satoshi, Truesdale, Mark R., Toldi, Otto, Scott, Peter, Doan, Danny N.P., Rudi, Heidi, Olsen, Odd-Arne, Pei, Zhen-Ming, Ward, John M., Schroeder, Julian I., Pattanagul, Wattana, Madore, Monica A., Zhang, Xiao, Ma, Jiong, Berkowitz, Gerald A., Waffenschmidt, Sabine, Kusch, Thomas, Woessner, Jeffrey Paul, Liu, Jinggao, Benedict, Chauncey R., Stipanovic, Robert D., Bell, Alois A., Carlson, Susan J., Chourey, Prem S., Davis, Gordon, Kobayashi, Masatomo, Phinney, Bernard O., Lange, Theo, Croker, Steve J., Gaskin, Paul, MacMillan, Jake, Munné-Bosch, Sergi, Schwarz, Karin, Alegre, Leonor, Kamb, Alexander, Ramaswami, Mani, Kosegarten, Harald U., Hoffmann, Bernd, Mengel, Konrad, Fowler, Thomas J., Bernhardt, Christine, Tierney, Mary L., Thomma, Bart P.H.J., Eggermont, Kristel, Tierens, Koenraad F.M.-J., Broekaert, Willem F., Walden, Adrian R., Walter, Christian, Gardner, Richard C., Persans, Michael W., Yan, Xiange, Patnoe, Jean-Marc M.L., Krämer, Ute, Salt, David E., Nebenführ, Andreas, Gallagher, Larry A., Dunahay, Terri G., Frohlick, Jennifer A., Mazurkiewicz, Anna M., Meehl, Janet B., Staehelin, L. Andrew, Hueros, Gregorio, Gomez, Elisa, Cheikh, Nordine, Edwards, Janice, Weldon, Marcia, Salamini, Francesco, Thompson, Richard D., van der Krol, Alexander R., van Poecke, Remco M.P., Vorst, Oscar F.J., Voogt, Charlotte, van Leeuwen, Wessel, Borst-Vrensen, Tanja W.M., Takatsuji, Hiroshi, van der Plas, Linus H.W., Tsiantis, Miltos, Brown, Matthew I.N., Skibinski, Gaia, Langdale, Jane A.
Publicado em 1999