المؤلفون: Campbell, C, Barohn, RJ, Bertini, E, Chabrol, B, Comi, GP, Darras, BT, Finkel, RS, Flanigan, KM, Goemans, N, Iannaccone, ST, Jones, KJ, Kirschner, J, Mah, JK, Mathews, KD, McDonald, CM, Mercuri, E, Nevo, Y, Pereon, Y, Ben Renfroe, J, Ryan, MM, Sampson, JB, Schara, U, Sejersen, T, Selby, K, Tulinius, M, Vilchez, JJ, Voit, T, Wei, LJ, Wong, BL, Elfring, G, Souza, M, McIntosh, J, Trifillis, P, Peltz, SW, Muntoni, F

المصدر: Journal of comparative effectiveness research. 9(14):973-984

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:144520616Test

المؤلفون: Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer, J, Ortez, CI, Nascimento, A, Febrer, A, Medina, J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L, Smith, E

المصدر: Neurology. 91(13):E1215-E1219

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:139754915Test

المؤلفون: Wang, HC, Salter, CG, Refai, O, Hardy, H, Barwick, KES, Akpulat, U, Kvarnung, M, Chioza, BA, Harlalka, G, Taylan, F, Sejersen, T, Wright, J, Zimmerman, HH, Karakaya, M, Stuve, B, Weis, J, Schara, U, Russell, MA, Abdul-Rahman, OA, Chilton, J, Blakely, RD, Baple, EL, Cirak, S, Crosby, AH

المصدر: Brain : a journal of neurology. 140(11):2838-2850

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:136965890Test

المؤلفون: McDonald, CM, Meier, T, Voit, T, Schara, U, Straathof, CSM, D'Angelo, MG, Bernert, G, Cuisset, JM, Finkel, RS, Goemans, N, Rummey, C, Leinonen, M, Spagnolo, P, Buyse, GM

المصدر: Neuromuscular disorders : NMD. 26(8):473-480

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:134145873Test

المؤلفون: Wang, CH, Bonnemann, CG, Rutkowski, A, Sejersen, T, Bellini, J, Battista, V, Florence, JM, Schara, U, Schuler, PM, Wahbi, K, Aloysius, A, Bash, RO, Beroud, C, Bertini, E, Bushby, K, Cohn, RD, Connolly, AM, Deconinck, N, Desguerre, I, Eagle, M, Estournet-Mathiaud, B, Ferreiro, A, Fujak, A, Goemans, N, Iannaccone, ST, Jouinot, P, Main, M, Melacini, P, Mueller-Felber, W, Muntoni, F, Nelson, LL, Rahbek, J, Quijano-Roy, S, Sewry, C, Storhaug, K, Simonds, A, Tseng, B, Vajsar, J, Vianello, A, Zeller, R

المصدر: Journal of child neurology. 25(12):1559-1581

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:121750227Test

العنوان البديل: Newborn screening for spinal muscular atrophy: What must the pediatrician know? (English)

المؤلفون: Müller-Felber, W., Vill, K., Schwartz, O., Blaschek, A., Nennstiel, U., Schara, U., Hoffmann, G. F., Gläser, D., Becker, M., Röschinger, W., Bernert, G., Klein, A., Kölbel, H.

المصدر: Monatsschrift Kinderheilkunde; Jul2024, Vol. 172 Issue 7, p595-600, 6p

المؤلفون: Hathazi, D, Griffin, H, Jennings, MJ, Giunta, M, Powell, C, Pearce, SF, Munro, B, Wei, W, Boczonadi, V, Poulton, J, Pyle, A, Calabrese, C, Gomez-Duran, A, Schara, U, Pitceathly, RD, Hanna, MG, Joost, K, Cotta, A, Paim, JF, Navarro, MM, Duff, J, Mattmann, A, Chapman, K, Servidei, S, Della Marina, A, Uusimaa, J, Roos, A, Mootha, V, Hirano, M, Tulinius, M, Giri, M, Hoffmann, EP, Lochmuller, H, DiMauro, S, Minczuk, M, Chinnery, PF, Muller, JS, Horvath, R

المصدر: The EMBO journal. 39(23):e105364

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:145020243Test

المؤلفون: Aartsma-Rus, A., Ferlini, A., McNally, E. M., Spitali, P., Sweeney, H. L., Al-Khalili Szigyarto, Cristina, Bello, L., Bronson, A., Brown, K., Buccella, F., Chadwick, J., Frank, D., Hoffman, E., Larkindale, J., McClorey, G., Munschauer, R., Muntoni, F., Owens, J., Schara, U., Straub, V., Tinsley, J., Versnel, J., Vroom, E., Welch, E.

المصدر: Neuromuscular Disorders. 28(1):77-86

مصطلحات موضوعية: Biobank, Biomarker, Duchenne muscular dystrophy, Dystrophin, MRI, alanine aminotransferase, aspartate aminotransferase, biological marker, carbonate dehydratase III, corticosteroid, dysferlin, enolase, fukutin related protein, glucocorticoid receptor, glutamate dehydrogenase, immunoglobulin enhancer binding protein, microRNA, microRNA 133a, microRNA 133b, osteopontin, protein enolase 3, stromelysin, unclassified drug, utrophin, vamorolone, alanine aminotransferase level, aspartate aminotransferase blood level, Becker muscular dystrophy, blood analysis, blood sampling, Conference Paper, corticosteroid therapy, CRISPR-CAS9 system, DNA modification, drug design, exon, exon skipping, gene, gene expression, human, lipidomics, LTBP4 gene, Netherlands, nonhuman, nuclear magnetic resonance imaging, priority journal, protein expression, real time polymerase chain reaction, single nucleotide polymorphism, SPP1 gene, urinalysis, urine sampling, workshop, animal, information dissemination, male, metabolism, non profit organization, validation study, Animals, Biomarkers, Humans, Muscular Dystrophy, Duchenne, Organizations, Nonprofit, Validation Studies as Topic

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-282709Test
https://doi.org/10.1016/j.nmd.2017.10.002Test

المؤلفون: Ambrosini, A, Quinlivan, R, Sansone, VA, Meijer, I, Schrijvers, G, Tibben, A, Padberg, G, Wit, M, Sterrenburg, E, Mejat, A, Breukel, A, Rataj, M, Lochmuller, H, Willmann, R, Athanasiou, D, Bere, N, Bertinotti, F, Bungay, N, Daly, C, de Lemus, M, De Wit, M, Galluccio, E, Gamroth, C, Goemans, N, Gomori, G, Hansson, M, Lamy, F, Landfeldt, E, Lennox, A, Mansbach, H, Mazzone, E, Mels, A, Monaco, L, Peay, H, Rahbek, J, Rasconi, M, Salama, F, Sansone, V, Schara, U, Trant, K, Van Engelen, B, Von Moers, A, Vroom, E, Zittersteijn, A

المصدر: Orphanet journal of rare diseases. 14(1):126

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:141136319Test

المؤلفون: Müller-Felber, W., Vill, K., Schwartz, O., Blaschek, A., Nennstiel, U., Schara, U., Hoffmann, G. F., Gläser, D., Becker, M., Röschinger, W., Bernert, G., Klein, A., Kölbel, H.

المصدر: http://lobid.org/resources/99370679162206441Test#!, 1-6.

مصطلحات موضوعية: Gentherapie, Gene therapy, Screening-Programm, Survival motor neuron gene, Präsymptomatische Behandlung, Übersichten, SMN2-Kopienzahl-Variation, Screening-program, Presymptomatic treatment

العلاقة: https://repository.publisso.de/resource/frl:6448245Test; https://doi.org/10.1007/s00112-021-01165-1Test

الإتاحة: https://doi.org/10.1007/s00112-021-01165-1Test
https://repository.publisso.de/resource/frl:6448245Test