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: Elia M Pestana Knight, Sam Amin, Nadia Bahi-Buisson, Tim A Benke, J Helen Cross, Scott T Demarest, Heather E Olson, Nicola Specchio, Thomas R Fleming, Alex A Aimetti, Maciej Gasior, Orrin Devinsky, Elena Belousova, Oleg Belyaev, Bruria Ben-Zeev, Andreas Brunklaus, Michael A. Ciliberto, Francesca Darra, Ronald Davis, Valentina De Giorgis, Olga Doronina, Michael Fahey, Renzo Guerrini, Peter Heydemann, Olga Khaletskaya, Pawel Lisewski, Eric D. Marsh, Ahsan N. Moosa, Scott Perry, Sunny Philip, Rajsekar R. Rajaraman, Ben Renfroe, Russell P. Saneto, Ingrid E. Scheffer, Yoshimi Sogawa, Bernhardt Suter, Matthew T. Sweney, Daniel Tarquinio, Pierangelo Veggiotti, Geoff Wallace, Judy Weisenberg, Angus Wilfong, Elaine C. Wirrell, Muhammad Zafar, Marta Zolnowska

المصدر: The Lancet Neurology. 21:417-427

مصطلحات موضوعية: Infant, Pregnanolone, Protein Serine-Threonine Kinases, Infantile, Spasms, Treatment Outcome, Double-Blind Method, Seizures, Child, Preschool, Humans, Prospective Studies, Neurology (clinical), Child, Epileptic Syndromes, Spasms, Infantile

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22b17fab27a5bde8c7c1a684f969528Test
https://doi.org/10.1016/s1474-4422Test(22)00077-1

المؤلفون: Knight, Elia M Pestana, Amin, Sam, Bahi-Buisson, Nadia, Benke, Tim A, Cross, J Helen, Demarest, Scott T, Olson, Heather E, Specchio, Nicola, Fleming, Thomas R, Aimetti, Alex A, Gasior, Maciej, Devinsky, Orrin, Elena, Belousova, Oleg, Belyaev, Bruria, Ben-Zeev, Andreas, Brunklaus, Michael A, Ciliberto, Francesca, Darra, Ronald, Davis, Valentina, De Giorgis, Olga, Doronina, Michael, Fahey, Renzo, Guerrini, Peter, Heydemann, Olga, Khaletskaya, Pawel, Lisewski, Eric D, Marsh, Ahsan N, Moosa, Scott, Perry, Sunny, Philip, Rajsekar R, Rajaraman, Ben, Renfroe, Russell P, Saneto, Ingrid E Scheffer, Yoshimi Sogawa, Bernhardt Suter, Matthew T Sweney, Daniel Tarquinio, Pierangelo Veggiotti, Geoff Wallace, Judy Weisenberg, Angus Wilfong, Elaine C, Wirrell, Muhammad, Zafar, Marta, Zolnowska

المساهمون: Elia M Pestana, Knight, Sam, Amin, Nadia, Bahi-Buisson, Tim A, Benke, J Helen, Cro, Scott T, Demarest, Heather E, Olson, Nicola, Specchio, Thomas R, Fleming, Alex A, Aimetti, Maciej, Gasior, Orrin, Devinsky, Belousova, Elena, Belyaev, Oleg, Ben-Zeev, Bruria, Brunklaus, Andrea, Ciliberto, Michael A, Darra, Francesca, Davis, Ronald, De Giorgis, Valentina, Doronina, Olga, Fahey, Michael, Guerrini, Renzo, Heydemann, Peter, Khaletskaya, Olga, Lisewski, Pawel, Marsh, Eric D, Moosa, Ahsan N, Perry, Scott, Philip, Sunny, Rajaraman, Rajsekar R, Renfroe, Ben, Saneto, Russell P, E Scheffer, Ingrid, Sogawa, Yoshimi, Suter, Bernhardt, T Sweney, Matthew, Tarquinio, Daniel, Veggiotti, Pierangelo, Wallace, Geoff, Weisenberg, Judy, Wilfong, Angu, Wirrell, Elaine C, Zafar, Muhammad, Zolnowska, Marta

مصطلحات موضوعية: Child, Double-Blind Method, Infant, Prospective Studies, Protein Serine-Threonine Kinases, Seizures, Treatment Outcome, Epileptic Syndromes, Pregnanolone, Spasms, Infantile

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35429480; info:eu-repo/semantics/altIdentifier/wos/WOS:000821423000015; volume:21; issue:5; firstpage:417; lastpage:427; numberofpages:11; journal:LANCET NEUROLOGY; https://hdl.handle.net/11562/1079693Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128131763; https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1474442222000771?returnurl=https://linkinghub.elsevier.com/retrieve/pii/S1474442222000771?showall=true&referrer=https://pubmed.ncbi.nlm.nih.govTest/

الإتاحة: https://doi.org/10.1016/S1474-4422Test(22)00077-1
https://hdl.handle.net/11562/1079693Test
https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1474442222000771?returnurl=https://linkinghub.elsevier.com/retrieve/pii/S1474442222000771?showall=true&referrer=https://pubmed.ncbi.nlm.nih.govTest/

المؤلفون: Ben Renfroe, J, Patten, Anna, Malhotra, Manoj, Ngo, Leock Y

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 93, issue 6, page A57.3-A58 ; ISSN 0022-3050 1468-330X

مصطلحات موضوعية: Psychiatry and Mental health, Neurology (clinical), Surgery

الإتاحة: https://doi.org/10.1136/jnnp-2022-abn.185Test

المؤلفون: Brandt, Christian, Ben Renfroe, J, Ngo, Leock Y, Patten, Anna, Malhotra, Manoj

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 93, issue 6, page A105.2-A105 ; ISSN 0022-3050 1468-330X

مصطلحات موضوعية: Psychiatry and Mental health, Neurology (clinical), Surgery

الإتاحة: https://doi.org/10.1136/jnnp-2022-abn.339Test

المؤلفون: Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose

المصدر: Paediatrics Publications

مصطلحات موضوعية: Duchenne muscular dystrophy, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Prednisolone, Population, Nonsense mutation, Placebo, chemistry.chemical_compound, Pregnenediones, Prednisone, Internal medicine, medicine, Humans, education, deflazacort, Retrospective Studies, education.field_of_study, business.industry, Health Policy, prednisolone, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Deflazacort, meta-analysis, chemistry, Codon, Nonsense, prednisone, business, medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7Test
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdfTest

المؤلفون: Christian Brandt, J Ben Renfroe, Leock Y Ngo, Anna Patten, Manoj Malhotra

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 93:A105.2-A105

مصطلحات موضوعية: Psychiatry and Mental health, Surgery, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b009a203a1348cdb33cfb0902d65f0c5Test
https://doi.org/10.1136/jnnp-2022-abn.339Test

المؤلفون: J Ben Renfroe, Anna Patten, Manoj Malhotra, Leock Y Ngo

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 93:A57.3-A58

مصطلحات موضوعية: Psychiatry and Mental health, Surgery, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f0df4bde4a40879eb11a5b5071dbe446Test
https://doi.org/10.1136/jnnp-2022-abn.185Test

المؤلفون: Brandt, Christian, Ben Renfroe, J, Ngo, Leock Y., Patten, Anna, Malhotra, Manoj

المصدر: Neurology ; volume 96, issue 15_supplement ; ISSN 0028-3878 1526-632X

الإتاحة: https://doi.org/10.1212/wnl.96.15_supplement.1331Test