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1دورية أكاديمية
المؤلفون: Töpf, A, Cox, D, Zaharieva, IT, Di Leo, V, Sarparanta, J, Jonson, PH, Sealy, IM, Smolnikov, A, White, RJ, Vihola, A, Savarese, M, Merteroglu, M, Wali, N, Laricchia, KM, Venturini, C, Vroling, B, Stenton, SL, Cummings, BB, Harris, E, Marini-Bettolo, C, Diaz-Manera, J, Henderson, M, Barresi, R, Duff, J, England, EM, Patrick, J, Al-Husayni, S, Biancalana, V, Beggs, AH, Bodi, I, Bommireddipalli, S, Bönnemann, CG, Cairns, A, Chiew, M-T, Claeys, KG, Cooper, ST, Davis, MR, Donkervoort, S, Erasmus, CE, Fassad, MR, Genetti, CA, Grosmann, C, Jungbluth, H, Kamsteeg, E-J, Lornage, X, Löscher, WN, Malfatti, E, Manzur, A, Martí, P, Mongini, TE, Muelas, N, Nishikawa, A, O'Donnell-Luria, A, Ogonuki, N, O'Grady, GL, O'Heir, E, Paquay, S, Phadke, R, Pletcher, BA, Romero, NB, Schouten, M, Shah, S, Smuts, I, Sznajer, Y, Tasca, G, Taylor, RW, Tuite, A, Van den Bergh, P, VanNoy, G, Voermans, NC, Wanschitz, JV, Wraige, E, Yoshimura, K, Oates, EC, Nakagawa, O, Nishino, I, Laporte, J, Vilchez, JJ, MacArthur, DG, Sarkozy, A, Cordell, HJ, Udd, B, Busch-Nentwich, EM, Muntoni, F, Straub, V
مصطلحات موضوعية: Animals, Humans, Male, Connectin, Muscle, Skeletal, Muscular Diseases, Mutation, Zebrafish
وصف الملف: 395 - 407
العلاقة: Nat Genet; Töpf, A., Cox, D., Zaharieva, I.T. et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet 56, 395–407 (2024). https://doi.org/10.1038/s41588-023-01651-0Test; https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test
الإتاحة: https://doi.org/10.1038/s41588-023-01651-0Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test -
2دورية أكاديمية
المؤلفون: Guglieri, M, Bushby, K, McDermott, MP, Hart, KA, Tawil, R, Martens, WB, Herr, BE, McColl, E, Speed, C, Wilkinson, J, Kirschner, J, King, WM, Eagle, M, Brown, MW, Willis, T, Griggs, RC, Straub, V, van Ruiten, H, Childs, AM, Ciafaloni, E, Shieh, PB, Spinty, S, Maggi, L, Baranello, G, Butterfield, RJ, Horrocks, IA, Roper, H, Alhaswani, Z, Flanigan, KM, Kuntz, NL, Manzur, A, Darras, BT, Kang, PB, Morrison, L, Krzesniak-Swinarska, M, Mah, JK, Mongini, TE, Ricci, F, von der Hagen, M, Finkel, RS, O'Reardon, K, Wicklund, M, Kumar, A, McDonald, CM, Han, JJ, Joyce, N, Henricson, EK, Schara-Schmidt, U, Gangfuss, A, Wilichowski, E, Barohn, RJ, Statland, JM, Campbell, C, Vita, G, Vita, GL, Howard, JF, Hughes, I, McMillan, HJ, Pegoraro, E, Bello, L, Burnette, WB, Thangarajh, M, Chang, T
المصدر: JAMA , 327 (15) pp. 1456-1468. (2022)
مصطلحات موضوعية: Child, Preschool, Female, Glucocorticoids, Humans, Male, Muscular Dystrophy, Duchenne, Prednisone, Pregnenediones
