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pro vyhledávání: '"Mazzone, E. S."'
Akademický článek
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Autor:
Conrado, D. J., Larkindale, J., Berg, A., Hill, M., Burton, J., Abrams, K. R., Abresch, R. T., Bronson, A., Chapman, D., Crowther, M., Duong, T., Gordish-Dressman, H., Harnisch, L., Henricson, E., Kim, S., Mcdonald, C. M., Schmidt, S., Vong, C., Wang, X., Wong, B. L., Yong, F., Romero, K., Vishwanathan, V., Chidambaranathan, S., Douglas Biggar, W., Mcadam, L. C., Mah, J. K., Tulinius, M., Cnaan, A., Morgenroth, L. P., Leshner, R., Tesi-Rocha, C., Thangarajh, M., Kornberg, A., Ryan, M., Nevo, Y., Dubrovsky, A., Clemens, P. R., Abdel-Hamid, H., Connolly, A. M., Pestronk, A., Teasley, J., Bertorini, T. E., Webster, R., Kolski, H., Kuntz, N., Driscoll, S., Bodensteiner, J. B., Gorni, K., Lotze, T., Day, J. W., Karachunski, P., Henricson, E. K., Joyce, N. C., Campbell, C., Torricelli, R. E., Finkel, R. S., Flanigan, K. M., Goemans, N., Heydemann, P., Kaminska, A., Kirschner, J., Muntoni, F., Osorio, A. N., Schara, U., Sejersen, T., Shieh, P. B., Sweeney, H. L., Topaloglu, H., Vilchez, J. J., Voit, T., Wong, B., Alfano, L. N., Eagle, M., James, M. K., Lowes, L., Mayhew, A., Mazzone, E. S., Nelson, L., Rose, K. J., Abdel-Hamid, H. Z., Apkon, S. D., Barohn, R. J., Bertini, E., Bloetzer, C., Devaud, L. C., Butterfield, R. J., Chabrol, B., Chae, J. H., Jongno-Gu, D. R., Comi, G. P., Darras, B. T., Dastgir, J., Desguerre, I., Escobar, R. G., Finanger, E., Guglieri, M., Hughes, I., Iannaccone, S. T., Jones, K. J., Kudr, M., Mathews, K., Parsons, J., Pereon, Y., de Queiroz Campos Araujo, A. P., Renfroe, J. B., de Resende, M. B. D., Selby, K., Tennekoon, G., Vita, G., Apkon, S., Barohn, R., Belousova, E., Brandsema, J., Bruno, C., Burnette, W., Butterfield, R., Byrne, B., Carlo, J., Chandratre, S., Comi, G., Connolly, A., De Groot I, I., Deconinck, N., Dooley, J., Durigneux, J., Finkel, R., Frank, L. M., Harper, A., Hattori, A., Herguner, O., Iannaccone, S., Janas, J., Jong, Y. J., Komaki, H., Lee, W. T., Leung, E., Mah, J., Mercuri, E., Mcmillan, H., Mueller-Felber, W., de Munain A, L., Nakamura, A., Niks, E., Ogata, K., Pascual, S., Pegoraro, E., Renfroe, B., Sanka, R. B., Schallner, J., Sendra, I. I., Servais, L., Smith, E., Sparks, S., Victor, R., Wicklund, M., Wilichoswki, E., Carter, G. T.
Publikováno v:
Journal of pharmacokinetics and pharmacodynamics. 46(5)
Drug development for rare diseases is challenged by small populations and limited data. This makes development of clinical trial protocols difficult and contributes to the uncertainty around whether or not a potential therapy is efficacious. The use
Autor:
Vogt, Sibylle, Krueger, Marcus, Pechmann, Astrid, Rippberger, Bianca, Eckenweiler, Matthias, Schara, Ulrike, Koelbel, Heike, Andres, Barbara, Rupprich, Katrin, Gangfuss, Andrea, Jachertz, Philipp, Della Marina, Adela, Sponemann, Nina, Pane, Markia, Palermo, Concetta, Piastra, Marco, Fanelli, Lavinia, de Sanctis, Roberto, Genovese, Orazio, Antonaci, Laura, Pera, Maria Carmela, Lamendola, Priscilla, Messina, Sonia, Vita, Gianluca, Di Bella, Vincenzo, Sframeli, Maria, Rosa, Matteo, Barcellona, Costanza, Distefano, Maria Grazia, Cavallaro, Filippo, Versaci, Antonio, de Luca, Francesco, Vita, Giuseppe, Nacimento Osorio, Andres, Tizzano, Eduardo, Ortez Gonzalez, Carlos Ignacio, Ortigoza Escobar, Juan Dario, Colomer Oferil, Juame, Medina Cantillo, Julita, Febrer Rotger, Anna, Vigo Morancho, Meritxell, Eldblom, Johanneh, Darin, Niklas, Kroksmark, Anna Karin, Lindstedt, Asa, Michael, Eva, Kimber, Eva, Wahlgren, Lisa, Chan, Sophelia Hoi-Shan, Chim, Stella, Chiu, Joseph, Ho, Alvin Chi Chung, Ip, Jing Kun Janice, Lam, Wendy Wai Man, Ng, Maggie Chui-San, Wan, Connie, Wong, Virginia Chun Nei, Yue, Yvonne, Arakawa, Reiko, Yamauchi, Akemi, Nagata, Satoru, Ito, Yasushi, Nakatsukasa, Hidetsugu, Takeshita, Akiko, Hirasawa, Kyoko, Ikai, Tetsuo, Eto, Kaoru, Otamni, Yui, Takeshima, Yasuhiro, Fukuda, Noroki, Tanaka, Yasuhiro, Shimomura, Hideki, Lee, Tomoko, Shibano, Takayuki, Mercuri, E., Tachikawa, Tomohiro, Darras, B. T., Chae, Jong-Hee, Chiriboga, C. A., Lim, Byung Chan, Day, J. W., Shin, Hyung-Ik, Campbell, C., Kim, Soo Yeon, Connolly, A. M., Choi, Sun Ah, Iannaccone, S. T., Son, Woo Sung, Kirschner, J., Jo, Hyemi, Kuntz, N. L., Chun, Seong Min, Saito, K., Kim, Hyuna, Shieh, P. B., Tulinius, M., Mazzone, E. S., Montes, J., Bishop, K. M., Yang, Q., Foster, R., Gheuens, S., Bennett, C. F., Farwell, W., Schneider, E., de Vivo, D. C., Finkel, R. S., Bradley, Walter G., Kaufmann, Petra, Dickson, Patricia I., Reingold, Stephen C., Davis, Charles S., Arredondo, Kristen, Castro, Diana, Cowie, Margaret, Farrow-Gillespie, Alan, Hebert, Andrew, Kauk, Melissa, Miller, Nancy, Nelson, Leslie, Spain, Thomas, Cappell, Joshua, Constantinescu, Andrei, Cruz, Rosangel, Dastgir, Jahannaz, de Vivo, Darryl, Dunaway, Sally, Engelstad, Kristin, Khandji, Alexander G., Kramer, Samantha, Marra, Jonathan, Popolizio, Molly, Salazar, Rachel, Weimer, Louis H., Aziz-Zaman, Sonya, Lamarca, Nicole, Ghosh, Partha, Al-Ghamdi, Fouad, Liew, Wendy, Graham, Robert, Berde, Charles, Sethna, Navil, Koka, Anjali, Wang, Luke, Laine, Regina, Souris, Michelle, Ordonez, Grace, Harrington, Timothy, Szelag, Heather, Pasternak, Amy, Mirek, Elizabeth, Quigley, Janet, Finkel, Richard, Berry, Debbie, Civitello, Matthew, Endsley, Julie Duke, Eden, Candace, Leon, Wendy, O'Reardon, Kathleen, Sigurdardottir, Laufey, Johnson, Craig, Turner, Jenna, Vega, Melisa, Weber-Guzman, Fabiola, Zinn, Matthias, Rocha, Ana Carolina Tesi, Watson, Karolina, d'Souza, Genevieve, Ramamurthi, R. J., Gee, Richard, Kitsuwa-Lowe, Janis, Hagerman, Katharine, Crasta, Sheela, Welsh, Lesly, Paulose, Shirley, Mcfall, Danielle, Perez, Jennifer, Patnaik, Swetapadma, Sanjanwala, Bharati, Sakamuri, Sarada, Proud, Crystal, Purse, Bona Park, Duong, Trinh Tina, Sampson, Jacinda, Tennekoon, Gihan, Brandsema, John, Glanzman, Allan, Flickinger, Jean, Toms, Michele, Adang, Laura, Stanford, Delores, Mayer, Oscar, Zigmont, Joshua, Chadehumbe, Madeline, Kichula, Elizabeth, Finanger, Erika, Russman, Barry, Roberts, Colin, Frank, Andrea, Benjamin, Danielle, Zilke, Kirsten, Golumbek, Paul T., Zaidman, Craig M., Anand, Pallavi, Gadeken, Rebecca, Siener, Catherine, Kuntz, Nancy, Epstein, Leon, Krueger, Jena, Goldman, Stewart, Krosschell, Kristin, Blomgren, Colleen, Choi, Hyoung Won, Kurz, Jonathan, Parsons, Julie, Janas, Joanne, Yang, Michele, Ballard, Alison, Carry, Terri, Shea, Stephanie, Bielsky, Alan, Booker, Kaylee, Camuto, Alicia, Lord-Halvorson, Sierra, Gibbons, Melissa, Zimmerman, Carl, Allen, Victoria, Fuhr, Peter, Johnson, Hannah, Tran, Vi, Vanderveen, Gina, Shieh, Perry, Fowler, Eileen, Parziale, Nicholas, Rao, Lekha, Skura, Christy, Kelley, Carolyn, Shu, Francy, Oskoui, Maryam, Zielinski, David, Poulin, Chantal, Ingelmo, Pablo Mauricio, Desilets, Sarah Turgeon, Dinunzio, Pamela, Rivera, Gonzalo, Srour, Myriam, Arpin, Stephanie, Goobie, Sharan, Gibson, Paul, Scholtes, Cheryl, Mcdonald, Wendy, Zapata, Eugenio, Nguyen, Cam-Tu Emilie, Servais, Laurent, Gargaun, Elena, Le Moing, Anne-Gaelle, Gidaro, Teresa, Vialle, Raphael, Guye, Marie-Laurence, Lilien, Charlotte, Olliver, Gwenn, Gilabert, Stephanie, Borell, Sabine, Wider, Sabine, Stein, Sabine
Publikováno v:
New England Journal of Medicine
New England Journal of Medicine, 2018, 378 (7), pp.625-635. ⟨10.1056/NEJMoa1710504⟩
Paediatrics Publications
New England Journal of Medicine, 2018, 378 (7), pp.625-635. ⟨10.1056/NEJMoa1710504⟩
Paediatrics Publications
Background: Nusinersen is an antisense oligonucleotide drug that modulates pre–messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA). Methods: We conducted a mult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f6453d0d091afe40c323e12c1408142
http://hdl.handle.net/10807/117760
http://hdl.handle.net/10807/117760
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Palermo, C., Pane, M., Fanelli, L., Mazzone, E. S., D’Amico, A., Messina, Sonia, Scutifero, M., Battini, R., Petillo, R., Frosini, S., Vita, Gianluca, Bruno, C., Mongini, T., Pegoraro, E., De Sanctis, R., Gardani, A., Berardinelli, A., Lanzillotta, V., Carlesi, A., Viggiano, E., Cavallaro, Filippo, Sframeli, Maria, Bello, L., Barp, A., Bonfiglio, S., Rolle, E., D’Angelo, G., Pini, A., Iotti, E., Gorni, K., Baranello, G., Bertini, E., Politano, L., Sormani, M. P., Mercuri, E.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3978::83b4c4f44c6243ba94e908fb4641fcff
http://hdl.handle.net/11570/3095901
http://hdl.handle.net/11570/3095901
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Evans WJ; Department Nutritional Sciences and Toxicology, University of California, Berkeley, California, USA., Hellerstein M; Department Nutritional Sciences and Toxicology, University of California, Berkeley, California, USA., Butterfield RJ; Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Smith E; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Guglieri M; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Katz N; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Nave B; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Branigan L; Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Thera S; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Vordos KL; Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Behar L; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Schiava M; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., James MK; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Field T; Department Nutritional Sciences and Toxicology, University of California, Berkeley, California, USA., Mohammed H; Department Nutritional Sciences and Toxicology, University of California, Berkeley, California, USA., Shankaran M; Department Nutritional Sciences and Toxicology, University of California, Berkeley, California, USA.
Publikováno v:
The Journal of physiology [J Physiol] 2024 Oct; Vol. 602 (19), pp. 4929-4939. Date of Electronic Publication: 2024 Aug 31.
Autor:
Bieniaszewska, Aleksandra1,2 (AUTHOR) aleksandra.bieniaszewska.22@gmail.com, Sobieska, Magdalena3 (AUTHOR) msobieska@ump.edu.pl, Gajewska, Ewa1 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Jul2024, Vol. 13 Issue 14, p4232. 14p.
Autor:
Li, Dan1 (AUTHOR), Yang, Jie2 (AUTHOR), Wang, Xueying1 (AUTHOR), Yang, Lin1 (AUTHOR), Luo, Rong2 (AUTHOR) lrscu@scu.edu.cn, Huang, Shaoping1 (AUTHOR) jiaodaeryuanerke@163.com
Publikováno v:
Brain & Behavior. Jul2024, Vol. 14 Issue 7, p1-10. 10p.
Autor:
Taylor, Stephanie1 (AUTHOR) inovak@cerebralpalsy.org.au, Novak, Iona1,2 (AUTHOR) michelle.jackman@health.nsw.gov.au, Jackman, Michelle1,2,3 (AUTHOR)
Publikováno v:
Future (2813-2882). Jun2024, Vol. 2 Issue 2, p46-55. 10p.