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1دورية أكاديمية
المؤلفون: Mendell, JR, Muntoni, F, McDonald, CM, Mercuri, EM, Ciafaloni, E, Komaki, H, Leon-Astudillo, C, Nascimento, A, Proud, C, Schara-Schmidt, U, Veerapandiyan, A, Zaidman, CM, Guridi, M, Murphy, AP, Reid, C, Wandel, C, Darton, E, Mason, S, Potter, RA, Singh, T, Zhang, W, Fontoura, P, Elkins, JS, Rodino-Klapac, LR
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 51, issue s1, page S9-S10 ; ISSN 0317-1671 2057-0155
الإتاحة: https://doi.org/10.1017/cjn.2024.95Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167124000957Test -
2دورية أكاديمية
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 -
3مؤتمر
المؤلفون: Day, JW, Finkel, RS, Connolly, AM, Darras, BT, Iannaccone, ST, Kuntz, NL, Peña, LDM, Smith, EC, Chiriboga, CA, Crawford, TO, Shieh, PB, Kwon, JM, Zaidman, CM, Schultz, M, Kausar, I, Chand, D, Tauscher-Wisniewski, S, Ouyang, H, Macek, TA, Mendell, JR
المصدر: Predicting longer term outcomes in children
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4دورية أكاديمية
المؤلفون: Zizzi C, Luebbe E, Mongiovi P, Hunter M, Dilek N, Garland C, Ciafaloni E, Zaidman CM, Kissel JT, McDermott MP, Johnson N, Sansone V, Heatwole CR
المساهمون: C. Zizzi, E. Luebbe, P. Mongiovi, M. Hunter, N. Dilek, C. Garland, E. Ciafaloni, C. Zaidman, J. Kissel, M. Mcdermott, N. Johnson, V. Sansone, C. Heatwole
مصطلحات موضوعية: disease burden, patient‐ reported outcome measure, quality of life, spinal muscular atrophy, symptom assessment, therapeutic trial, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33711174; info:eu-repo/semantics/altIdentifier/wos/WOS:000632194400001; volume:63; issue:6; firstpage:837; lastpage:844; numberofpages:8; journal:MUSCLE & NERVE; http://hdl.handle.net/2434/853331Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103068065
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5دورية أكاديمية
المؤلفون: Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., Iannaccone, S. T., Kirschner, J., Kuntz, N. L., Saito, K., 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 WG, Kaufmann P, Dickson PI, Reingold SC, Davis CS, Arredondo K, Castro D, Cowie M, Farrow-Gillespie A, Hebert A, Kauk M, Miller N, Nelson L, Spain T Jr, Cappell J, Constantinescu A, Cruz R, Dastgir J, Dunaway S, Engelstad K, Khandji AG, Kramer S, Marra J, Popolizio M, Salazar R, Weimer LH, Aziz-Zaman S, LaMarca N, Ghosh P, Al-Ghamdi F, Liew W, Graham R, Berde C, Sethna N, Koka A, Wang L, Laine R, Souris M, Ordonez G, Harrington T, Szelag H, Pasternak A, Mirek E, Quigley J, Berry D, Civitello M, Endsley JD, Eden C, Leon W, O'Reardon K, Sigurdardottir L, Johnson C, Turner J, Vega M, Weber-Guzman F, Zinn M, Tesi Rocha AC, Watson K, D'Souza G, Ramamurthi RJ, Gee R, Kitsuwa-Lowe J, Hagerman K, Crasta S, Welsh L, Paulose S, McFall D, Perez J, Patnaik S, Sanjanwala B, Sakamuri S, Proud C, Purse BP, Duong TT, Sampson J, Tennekoon G, Brandsema J, Glanzman A, Flickinger J, Toms M, Adang L, Stanford D, Mayer O, Zigmont J, Chadehumbe M, Kichula E, Finanger E, Russman B, Roberts C, Frank A, Benjamin D, Zilke K, Golumbek PT, Zaidman CM, Anand P, Gadeken R, Siener C, Epstein L, Krueger J, Goldman S, Krosschell K, Blomgren C, Choi HW, Kurz J, Parsons J, Janas J, Yang M, Ballard A, Carry T, Shea S, Bielsky A, Booker K, Camuto A, Lord-Halvorson S, Gibbons M, Zimmerman C, Allen V, Fuhr P, Kelley C, Johnson H, Tran V, VanderVeen G, Fowler E, Parziale N, Rao L, Skura C, Shu F, Oskoui M, Zielinski D, Poulin C, Ingelmo PM, Desilets ST, Dinunzio P, Rivera G, Srour M, Arpin S, Goobie S, Gibson P, Scholtes C, McDonald W, Zapata E, Nguyen CE, Servais L, Gargaun E, Le Moing AG, Gidaro T, Vialle R, Guye ML, Lilien C, Olliver G, Gilabert S, Borell S, Wider S, Stein S, Vogt S, Krüger M, Pechmann A, Rippberger B, Eckenweiler M, Schara U, Koelbel H, Andres B, Rupprich K, Gangfuss A, Jachertz P, Della Marina A, Sponemann N, Pane M, Palermo C, Piastra M, Fanelli L, De Sanctis R, Genovese O, Antonaci L, Pera MC, Lamendola P, Messina S, Vita G, Di Bella V, Sframeli M, La Rosa M, Barcellona C, Distefano MG, Cavallaro F, Versaci A, De Luca F, Nacimento Osorio A, Tizzano E, Ortez Gonzalez CI, Ortigoza Escobar JD, Colomer Oferil J, Medina Cantillo J, Rotger AF, Vigo Morancho M, Eldblom J, Darin N, Kroksmark AK, Lindstedt A, Michael E, Kimber E, Wahlgren L, Chan SH, Chim S, Chiu J, Ho ACC, Ip JKJ, Lam WWM, Ng MC, Wan C, Wong VCN, Yue Y, Arakawa R, Yamauchi A, Nagata S, Ito Y, Nakatsukasa H, Takeshita A, Hirasawa K, Ikai T, Eto K, Otamni Y, Takeshima Y, Fukuda N, Tanaka Y, Shimomura H, Lee T, Shibano T, Tachikawa T, Chae JH, Lim BC, Shin HI, Kim SY, Choi SA, Son WS, Jo H, Chun SM, Kim H.
المساهمون: Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., Iannaccone, S. T., Kirschner, J., Kuntz, N. L., Saito, K., 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, Wg, Kaufmann, P, Dickson, Pi, Reingold, Sc, Davis, C, Arredondo, K, Castro, D, Cowie, M, Farrow-Gillespie, A, Hebert, A, Kauk, M, Miller, N, Nelson, L, Spain, T Jr, Cappell, J, Constantinescu, A, Cruz, R, Dastgir, J, Dunaway, S, Engelstad, K, Khandji, Ag, Kramer, S, Marra, J, Popolizio, M, Salazar, R, Weimer, Lh, Aziz-Zaman, S, Lamarca, N, Ghosh, P, Al-Ghamdi, F, Liew, W, Graham, R, Berde, C, Sethna, N, Koka, A, Wang, L, Laine, R, Souris, M, Ordonez, G, Harrington, T, Szelag, H, Pasternak, A, Mirek, E, Quigley, J, Berry, D, Civitello, M, Endsley, Jd, Eden, C, Leon, W, O'Reardon, K, Sigurdardottir, L, Johnson, C, Turner, J, Vega, M, Weber-Guzman, F, Zinn, M, Tesi Rocha, Ac, Watson, K, D'Souza, G, Ramamurthi, Rj, Gee, R, Kitsuwa-Lowe, J, Hagerman, K, Crasta, S, Welsh, L, Paulose, S, Mcfall, D, Perez, J, Patnaik, S, Sanjanwala, B, Sakamuri, S, Proud, C, Purse, Bp, Duong, Tt, Sampson, J, Tennekoon, G, Brandsema, J
مصطلحات موضوعية: Age of Onset, Child, Preschool, Double-Blind Method, Female, Human, Infant, Injections, Spinal, Least-Squares Analysi, Male, Motor Skill, Oligonucleotide, Oligonucleotides, Antisense, Spinal Muscular Atrophies of Childhood, Medicine (all)
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29443664; info:eu-repo/semantics/altIdentifier/wos/WOS:000425000000008; volume:378; issue:7; firstpage:625; lastpage:635; numberofpages:11; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11570/3127475Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85042194277; http://www.nejm.org/medical-indexTest
الإتاحة: https://doi.org/10.1056/NEJMoa1710504Test
http://hdl.handle.net/11570/3127475Test
http://www.nejm.org/medical-indexTest