المؤلفون: Finkel, RS, Mercuri, E, Darras, BT, Connolly, AM, Kuntz, NL, Kirschner, J, Chiriboga, CA, Saito, K, Servais, L, Tizzano, E, Topaloglu, H, Tulinius, M, Montes, J, Glanzman, AM, Bishop, K, Zhong, ZJ, Gheuens, S, Bennett, CF, Schneider, E, Farwell, W, De Vivo, DC, Bradley, WG, Schroth, MK, Bodensteriner, JB, Davis, CS, Shell, R, Hen, J, Austin, ED, Aziz-Zaman, S, Cappell, J, Constantinescu, A, Cruz, R, Dastgir, J, Dunaway, S, Engelstad, K, Gormley, M, Holuba La Marca, N, Khandji, A, Kramer, S, Marra, J, Ortiz-Miller, C, Popolizio, M, Salazar, R, Sanabria, L, Weimer, L, Anand, P, Gadeken, R, Golumbek, PT, Siener, C, Zaidman, CM, Al-Ghamdi, F, Berde, C, Ghosh, P, Graham, R, Harrington, T, Koka, A, Laine, R, Liew, W, Mirek, E, Ordonez, G, Pasternak, A, Quigley, J, Sethna, N, Souris, M, Szelag, H, Wand, L, Day, JW, D'Souza, G, Duong, TT, Gee, R, Kitsuwa-Lowe, J, McFall, D, Patnaik, S, Paulose, S, Perez, J, Proud, C, Purse, B, Ramamurthi, RJ, Sakamuri, S, Sampson, J, Sanjanwala, B, Tesi Rocha, AC, Watson, K, Welsh, L, Pena, LDM, Case, L, Coates, J, DeArmey, S, Homi, MM, Milleson, C, Nelson, N, Ross, A, Smith, E, Taicher, B, Wootton, J, Finanger, E, Benjamin, D, Frank, A, Roberts, C, Russman, B, Farrar, Michelle, Kandula, Tejaswi

المصدر: urn:ISSN:0028-4793 ; urn:ISSN:1533-4406 ; New England Journal of Medicine, 377, 18, 1723-1732

مصطلحات موضوعية: Brain Disorders, Pediatric, Clinical Research, Neurosciences, Genetics, Clinical Trials and Supportive Activities, Orphan Drug, Spinal Muscular Atrophy, Neurodegenerative, Patient Safety, Rare Diseases, Neurological, 3 Good Health and Well Being, Age of Onset, Disease-Free Survival, Double-Blind Method, Female, Humans, Infant, Injections, Spinal, Male, Motor Skills, Oligonucleotides, Antisense, RNA, Messenger, Respiration, Artificial, Spinal Muscular Atrophies of Childhood

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_49227Test; https://unsworks.unsw.edu.au/bitstreams/8464c3c3-9df7-43a0-be50-b5125661ad27/downloadTest; https://doi.org/10.1056/NEJMoa1702752Test

الإتاحة: https://doi.org/10.1056/NEJMoa1702752Test
http://hdl.handle.net/1959.4/unsworks_49227Test
https://unsworks.unsw.edu.au/bitstreams/8464c3c3-9df7-43a0-be50-b5125661ad27/downloadTest

المؤلفون: Finkel, Richard S., Mercuri, Eugenio, Darras, Basil T., Connolly, Anne M., Kuntz, Nancy L., Kirschner, Janbernd, Chiriboga, Claudia A., Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M., Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C., Bradley, W. G., Schroth, M. K., Bodensteriner, J. B., Davis, C. S., Shell, R., Hen, J., Austin, E. D., Aziz-Zaman, S., Cappell, J., Constantinescu, A., Cruz, R., Dastgir, J., Dunaway, S., Engelstad, K., Gormley, M., Holuba La Marca, N., Khandji, A., Kramer, S., Marra, J., Ortiz-Miller, C., Popolizio, M., Salazar, R., Sanabria, L., Weimer, L., Anand, P., Gadeken, R., Golumbek, P. T., Siener, C., Zaidman, C. M., Al-Ghamdi, F., Berde, C., Ghosh, P., Graham, R., Harrington, T., Koka, A., Laine, R., Liew, W., Mirek, E., Ordonez, G., Pasternak, A., Quigley, J., Sethna, N., Souris, M., Szelag, H., Wand, L., Day, J. W., D'Souza, G., Duong, T. T., Gee, R., Kitsuwa-Lowe, J., McFall, D., Patnaik, S., Paulose, S., Perez, J., Proud, C., Purse, B., Ramamurthi, R. J., Sakamuri, S., Sampson, J., Sanjanwala, B., Tesi Rocha, A. C., Watson, K., Welsh, L., Pena, L. D. M., Case, L., Coates, J., DeArmey, S., Homi, M. M., Milleson, C., Nelson, N., Ross, A., Smith, E., Taicher, B., Wootton, J., Finanger, E., Benjamin, D., Frank, A., Roberts, C., Russman, B., Zilke, K., Berry, D., Civitello, M., Cook, D., Endsley, J. D., Johnson, C., Kasper, M., Leon, W., Lim, A., O'Reardon, K., Sigurdardottir, L. Y., Turner, J., Weber-Guzman, F., Zinn, M., Iannaccone, S. T., Castro, D., Cowie, M., Farrow-Gillespie, A., Herbert, A., Kauk, M., McElroy, D., Miller, N., Nelson, L., Smith, L., Spain, T., Trest, S., Johnson, N., Butterfield, R., DiBella, D., Mayne, K., Newcomb, T. M., Rausch, N., Blomgren, C., Choi, H. W., Epstein, L., Goldman, S., Krosschell, K., Krueger, J., Kurz, J., Rao, V., Parsons, J., Allen, V., Bielsky, A., Booker, K., Camuto, A., Carry, T., Fuhr, P., Gibbons, M., Janas, J., Johnson, H., Kelly, C., Lord-Halvorson, L. S., Nicolarsen, S., Shea, S., Tran, V., VanderVeen, G., Yang, M., Zimmerman, C., Shieh, P., Parziale, N., Rao, L., Said, J. W., Shu, F., Skura, C., Staudt, L., Tennekoon, G., Adang, L., Brandsema, J., Chadehumbe, M., Flickinger, J., Kichula, E., Stanford, D., Toms, M., Zigmont, J., Oskoui, M., Arpin, S., Dinunzio, P., Ingelmo, P. M., Poulin, C., Rivera, G., Sabapathy, C., Srour, M., Turgeon-Desilet, S., Zielinski, D., Selby, K., King, C., Lee, J., Michoulas, A., Roland, E., Vajsar, J., Chau, V., Dowling, J., Haldenby, R., Miki, M., So, S., Pascual Pascual, S. I., Martinez Bermejo, A., Epinosa Garcia, S., Garcia Guixot, S., Martinez Moreno, M. M., del Pilar Tirado Requero, M., del Mar Garcia Romero, M., Aguilar, C., Munell Casadesus, F., Gomez Garcia de la Banda, M. B., Gallardo, M., Gili, G., Alavarez Molinero, M., de Los Angeles Tormos Munoz, M., Palacios, N. J., Planas Pascual, B., del Mar Melendez Plumed, M., Rucian, A. F., Toro Tamargo, E., Gratacos Vinola, M., Borell, S., Eckenweiler, M., Krüger, M., Pechmann, A., Rippberger, B., Stein, S., Vogt, S., Wider, S., Schara, U., Andres, B., Della Marina, A., Ganfuss, A., Jachertz, P., Koelbel, H., Rupprich, K., Schroers, E. S., Sponemann, N., Bruno, C., Fiorillo, C., Garaventa, A., Lanteri, P., Lanzillotta, V., Manzitti, C., Pedermonte, M., Tacchetti, P., Trucco, F., Zuffi, A., De Sanctis, R., Fanelli, L., Luigetti, M., Palermo, C., Pane, M., Piastra, M., Sivo, S., Gargaun, E., Gidaro, T., Gilabert, S., Léger, P. L., Le Moing, A. G., Lilien, C., Mayer, M., Ollievier, Q., Rambaud, J., Taytard, J., Vialle, R., Voit, T., Muntoni, F., D'Argenzio, L., Lister, PH., Manzur, A., Pisco Domingos, J., Ramsey, D., Ricotti, V., Schottlaender, L., Scoto, M., Scuplak, S. M., Selby, V., Straub, V., Baily, S., Bertoli, M., Mayhew, A. G., Lofra, R. M., Murphy, A., Wood, C., Darin, N., Eldblom, J., Kimber, E., Kroksmark, A. K., Lindstedt, A., Michael, E., Sofou, K., Deconinck, N., Christiaens, A., Coppens, S., DeCock, K., De Vos voor, E., Dorban, F., Gilbert, G., Rooze, S., Tahon, V., Van Coster, R., Van Der Looven, R., Vanlander, A., Vens, D., Verhelst, H., Wenderickx, B., Wittevrongel, S., Farrar, M., Berthon-Jones, N., Doumit, M. A., Herbert, K. J., Kandula, T., Morrison, M., O'Brien, J., Richardson, S., Ferreira Sampaio, H. A., Teoh, H. L., Ryan, M., Carroll, K. M., De Valle, K. L., Villano, D., Woodcock, I., Yiu, E. M., Ardicli, D., Gunbey, C., Haliloglu, V. G., Karaduman, A. A., Konuskan, B., Yildiz Sarikaya, F. G., Serdaroglu, E., Tanyildiz, M., Temucin, C. M., Yildirim, M., Yilmaz, O. T., Arakawa, R., Chiba, Y., Eto, K., Hirasawa, K., Ikai, T., Ito, S., Ito, Y., Kaburagi, Y., Kaneko, H., Matsumaru, S., Matsushima, N., Mizuochi, K., Nagata, S., Nakatsukasa, H., Nishikawa, A., Otani, Y., Sato, T., Shichiji, M., Sugimoto, K., Takeshita, A., Yanagishita, T., Yamauchi, A., Takeshima, Y., Fujino, T., Fukuda, N., Lee, T., Oriyama, K., Shibano, T., Shimomura, H., Tachikawa, T., Tanaka, Y., Taniguchi, N., Chae, J. H., Choi, S. A., Chun, S. M., Jo, H., Kim, H., Kim, S. Y., Lee, J. S., Lim, B. C., Shin, H. I., Son, W. S., Chan, S., Chung, A. C., Yan, C. S., Stella, C., Joseph, C. K. W., Ng, C. S., Alvin, H. C. C., Janice, I. J. K., Wendy, L. W. M., Chui-San, M. N., Ki, N. Y., Shun, T. N., Connie, W. Y., Virginia, W. C., Yvonne, Y., Jong, Y. J., Chen, T. H., Chou, P. C., Chou, Y. H., Chung, H. W., Hsu, J. H., Ju, Y. H., Liang, W. C., Shih, H. H., Wang, H. Y., Wu, Y. C., Zeng, Y. S.

المساهمون: Finkel, Richard S., Mercuri, Eugenio, Darras, Basil T., Connolly, Anne M., Kuntz, Nancy L., Kirschner, Janbernd, Chiriboga, Claudia A., Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M., Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C., Bradley, W. G., Schroth, M. K., Bodensteriner, J. B., Davis, C. S., Shell, R., Hen, J., Austin, E. D., Aziz-Zaman, S., Cappell, J., Constantinescu, A., Cruz, R., Dastgir, J., Dunaway, S., Engelstad, K., Gormley, M., Holuba La Marca, N., Khandji, A., Kramer, S., Marra, J., Ortiz-Miller, C., Popolizio, M., Salazar, R., Sanabria, L., Weimer, L., Anand, P., Gadeken, R., Golumbek, P. T., Siener, C., Zaidman, C. M., Al-Ghamdi, F., Berde, C., Ghosh, P., Graham, R., Harrington, T., Koka, A., Laine, R., Liew, W., Mirek, E., Ordonez, G., Pasternak, A., Quigley, J., Sethna, N., Souris, M., Szelag, H., Wand, L., Day, J. W., D'Souza, G., Duong, T. T., Gee, R., Kitsuwa-Lowe, J., Mcfall, D., Patnaik, S., Paulose, S., Perez, J., Proud, C., Purse, B., Ramamurthi, R. J., Sakamuri, S., Sampson, J., Sanjanwala, B., Tesi Rocha, A. C., Watson, K., Welsh, L., Pena, L. D. M., Case, L., Coates, J., Dearmey, S., Homi, M. M., Milleson, C., Nelson, N., Ross, A., Smith, E., Taicher, B., Wootton, J., Finanger, E., Benjamin, D., Frank, A., Roberts, C., Russman, B.

مصطلحات موضوعية: Medicine (all)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000414239100005; volume:377; firstpage:1723; lastpage:1732; numberofpages:10; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11567/943655Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85032714516

الإتاحة: https://doi.org/10.1056/NEJMoa1702752Test
http://hdl.handle.net/11567/943655Test