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1
المؤلفون: Mercuri, E., Osorio, A. N., Muntoni, F., Buccella, F., Desguerre, I., Kirschner, J., Tulinius, Mar, 1953, de Resende, M. B. D., Morgenroth, L. P., Gordish-Dressman, H., Johnson, S., Kristensen, A., Werner, C., Trifillis, P., Henricson, E. K., McDonald, C. M., Stride Investigator, Stride Investigator, Cinrg Dnhs Investigator, Cinrg Dnhs Investigator
المصدر: Journal of Neurology. 270:3896-3913
مصطلحات موضوعية: Neurosciences, Neurovetenskaper, Ataluren, Effectiveness, Nonsense mutation Duchenne muscular dystrophy, Safety, STRIDE Registry, muscular-dystrophy, multicenter, diagnosis, Neurosciences & Neurology
URL الوصول: https://gup.ub.gu.se/publication/327280
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2دورية أكاديمية
المؤلفون: McDonald, C. M., Jong, Y.-J., Karachunski, P., Statland, J., Lorentzos, M., Cairns, A., Takeshima, Y., Penematsa, V., Chou, C., Lin, M., Werner, C., Trifillis, P., Gordon, G., Williams, P., Grünert, J., Klein, M., Bramlage, P.
المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p
مصطلحات موضوعية: DUCHENNE muscular dystrophy, NONSENSE mutation
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3
المؤلفون: Mercuri, E., Muntoni, F., Osorio, A. N., Tulinius, M., Buccella, F., Morgenroth, L. P., Gordish-Dressman, H., Jiang, J., Trifillis, P., Zhu, L., Kristensen, A., Santos, C. L., Henricson, E. K., McDonald, C. M., Desguerre, I., Bernert, G., Gosk-Tomek, M., Ille, A., Kellersmann, A., Weiss, S., Pilshofer, V., Balintova, Z., Danhofer, P., Fabulova, P., Jurikova, L., Fuchsova, P., Haberlova, J., Laffargue, F., Sarret, C., Pontier, B., Bellance, R., Sarrazin, E., Sabouraud, P., Magot, A., Mercier, S., Pereon, Y., Cuisset, J. M., Coopman-Degryse, S., Enaud, E., Jacquemont, M. L., Perville, A., Renouil, M., Trommsdorff, V., Verheulpen, D., Fontaine-Carbonnel, S., Vuillerot, C., Peudenier, S., Ropars, J., Audic, F., Chabrol, B., Chabrier, S., Gousse, G., Lagrue, E., Aragon, K., Barnerias, C., Brande, L. V., De Lucia, S., Gidaro, T., Seferian, A., Servais, L., Laugel, V., Espil-Taris, C., Mecili, H., Raffo, E., Ragot-Mandry, S., Borrell, S., Kirschner, J., Gangfuss, A., Henrich, M., Kolbel, H., Schara, U., Sponemann, N., Temme, E., Seeger, J., Hirsch, A., Denecke, J., Johannsen, J., Neu, A., Osinski, D., Rugner, S., Schussler, S., Trollmann, R., Kaindl, A., Schneider, J. B., Stoltenburg, C., Weiss, C., Schreiber, G., Hahn, A., Grzybowski, M., Pavlidou, E., Pavlou, E., Dobner, S., Liptai, Z., Dor, T., Brogna, C., Catteruccia, M., D'Amico, A., Pane, M., Bello, L., Pegoraro, E., Semplicini, C., Albamonte, E., Baranello, G., Comi, G., Govoni, A., Lerario, A., Magri, F., Masson, R., Mauri, E., Sansone, V., Brusa, C., Mongini, T., Ricci, F., Vacchetti, M., Bruno, C., Paniucci, C., Pedemonte, M., Giannotta, M., Pini, A., Messina, S., Sframeli, M., Vita, G., Ruggiero, L., Santoro, L., Craiu, D., Motoescu, C., Sandu, C., Teleanu, R., Vasile, D., Tulinius, Mar, 1953, Hughes, I., Childs, A. M., Alhaswani, Z., Roper, H., Parasuraman, D., DeGoede, C., Gowda, V., Manzur, A., Munot, P., Sarkokzy, A., Charlesworth, C., Lemon, J., Turner, L., Spinty, S., Dubrovsky, A., Kornberg, A., Ryan, M., Webster, R., Biggar, W. D., McAdam, L. C., Mah, J. K., Kolski, H., Vishwanathan, V., Chidambaranathan, S., Nevo, Y., Gorni, K., Carlo, J., Abresch, R. T., Joyce, N. C., Cnaan, A., Leshner, R., Tesi-Rocha, C., Thangarajh, M., Duong, T., Clemens, P. R., Abdel-Hamid, H., Connolly, A. M., Pestronk, A., Teasley, J., Harper, A., Bertorini, T. E., Kuntz, N., Driscoll, S., Day, J. W., Karachunski, P., Lotze, T., Stride, Stride
المصدر: Journal of Comparative Effectiveness Research. 9(5):341-360
مصطلحات موضوعية: Neurosciences, Neurovetenskaper
URL الوصول: https://gup.ub.gu.se/publication/294301
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4دورية أكاديمية
المؤلفون: Mishra, P. E., Shastri, L., Thomas, T., Duggan, C., Bosch, R., McDonald, C. M., Kurpad, A. V., Kuriyan, R.
المصدر: Indian Pediatrics. September 2015 52(9):773-778
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5
المؤلفون: Guglieri, M., Bushby, K., Mcdermott, M. P., Hart, K. A., Tawil, R., Martens, W. B., Herr, B. E., Mccoll, E., Speed, C., Wilkinson, J., Kirschner, J., King, W. M., Eagle, M., Brown, M. W., Willis, T., Griggs, R. C., Straub, V., van Ruiten, H., Childs, A. -M., Ciafaloni, E., Shieh, P. B., Spinty, S., Maggi, L., Baranello, G., Butterfield, R. J., Horrocks, I. A., Roper, H., Alhaswani, Z., Flanigan, K. M., Kuntz, N. L., Manzur, A., Darras, B. T., Kang, P. B., Morrison, L., Krzesniak-Swinarska, M., Mah, J. K., Mongini, T. E., Ricci, F., von der Hagen, M., Finkel, R. S., O'Reardon, K., Wicklund, M., Kumar, A., Mcdonald, C. M., Han, J. J., Joyce, N., Henricson, E. K., Schara-Schmidt, U., Gangfuss, A., Wilichowski, E., Barohn, R. J., Statland, J. M., Campbell, C., Vita, G., Vita, G. L., Howard, J. F., Hughes, I., Mcmillan, H. J., Pegoraro, E., Bello, L., Burnette, W. B., Thangarajh, M., Chang, T.
المساهمون: Schara-Schmidt, Ulrike (Beitragende*r), Gangfuss, Andrea (Beitragende*r)
المصدر: JAMA
مصطلحات موضوعية: Male, Medizin, General Medicine, Duchenne, Muscular Dystrophy, Duchenne, Child, Child, Preschool, Female, Humans, Pregnenediones, Glucocorticoids, Prednisone, Muscular Dystrophy, Preschool, Original Investigation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b1feacdba62af12b8e4e14d2e6f1136
https://www.ncbi.nlm.nih.gov/pubmed/35381069 -
6دورية أكاديمية
المؤلفون: Shastri, L, Mishra, P E, Dwarkanath, P, Thomas, T, Duggan, C, Bosch, R, McDonald, C M, Thomas, A, Kurpad, A VAff2, IDejcn2014248_cor9
المصدر: European Journal of Clinical Nutrition. 69(5):609-613
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7دورية أكاديمية
المؤلفون: McDonald, C M, McLean, J, Kroeun, H, Talukder, A, Lynd, L D, Green, T JAff2, IDejcn2014161_cor6
المصدر: European Journal of Clinical Nutrition. 69(2):242-246
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8
المؤلفون: McDonald, C. M., Muntoni, F., Penematsa, V., Jiang, J., Kristensen, A., Bibbiani, F., Goodwin, E., Gordish-Dressman, H., Morgenroth, L., Werner, C., Li, J., Able, R., Trifillis, P., Tulinius, Mar, 1953
المصدر: Journal of Comparative Effectiveness Research. 11(3)
مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, ataluren, dystrophin, efficacy, loss of ambulation, nonsense mutation, Duchenne muscular dystrophy, respiratory function, Study 019, natural-history, glucocorticoids, progression, management, diagnosis, benefits, life, dmd, Health Care Sciences & Services
URL الوصول: https://gup.ub.gu.se/publication/312205
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9دورية أكاديمية
المؤلفون: McDonald, C M, Kupka, RAff1, Aff2, Manji, K P, Okuma, J, Bosch, R J, Aboud, S, Kisenge, R, Spiegelman, DAff4, Aff5, Fawzi, W WAff1, Aff5, Aff6, Duggan, C PAff1, Aff7, IDejcn2012136_cor10
المصدر: European Journal of Clinical Nutrition. 66(11):1265-1276
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10
المؤلفون: Heier, C. R., Zhang, A. P., Nguyen, N. Y., Tully, C. B., Panigrahi, A., Gordish-Dressman, H., Pandey, S. N., Guglieri, M., Ryan, M. M., Clemens, P. R., Thangarajh, M., Webster, R., Smith, E. C., Connolly, A. M., McDonald, C. M., Karachunski, P., Tulinius, Mar, 1953, Harper, A., Mah, J. K., Fiorillo, A. A., Chen, Y. W.
المصدر: Journal of Personalized Medicine. 10(4)
مصطلحات موضوعية: Cell and Molecular Biology, Cell- och molekylärbiologi, FSHD, biomarkers, miRNA, proteomics, calprotectin, dystrophy, muscle, girdle muscular-dystrophy, microrna expression, serum biomarkers, dux4, expression, plasma micrornas, smchd1 mutation, candidate gene, DNA, elements, diagnosis, d4z4, Health Care Sciences & Services, General & Internal Medicine
URL الوصول: https://gup.ub.gu.se/publication/300996