Zobrazeno 1 - 10 of 55 pro vyhledávání: '"Mazzone ES"'
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Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials
Autor: McDonald CM, A238., Sajeev, G, Yao, Z, Mcdonnell, E, Elfring, G, Souza, M, Peltz, Sw, Darras, Bt, Shieh, Pb, Cox, Da, Landry, J, Signorovitch, J, Campbell, C, Torricelli, Re, Finkel, Rs, Flanigan, Km, Goemans, N, Heydemann, P, Kaminska, A, Kirschner, J, Muntoni, F, Osorio, An, Schara, U, Sejersen, T, Sweeney, Hl, Topaloglu, H, Tulinius, M, Vilchez, Jj, Voit, T, Wong, B, Alfano, Ln, Eagle, M, James, Mk, Lowes, L, Mayhew, A, Mazzone, Es, Nelson, L, Rose, Kj, Abdel-Hamid, Hz, Apkon, Sd, Barohn, Rj, Bertini, E, Bloetzer, C, de Vaud LC, Butterfield, Rj, Chabrol, B, Chae, Jh, Jongno-Gu, Dr, Comi, Gp, Dastgir, J, Desguerre, I, Escobar, Rg, Finanger, E, Guglieri, M, Hughes, I, Iannaccone, St, Jones, Kj, Karachunski, P, Kudr, M, Lotze, T, Mah, Jk, Mathews, K, Nevo, Y, Parsons, J, Péréon, Y, de Queiroz Campos Araujo AP, Renfroe, Jb, de Mbd, R, Ryan, M, Selby, K, Tennekoon, G, Vita, G, Abdel-Hamid, H, Apkon, S, Barohn, R, Belousova, E, Brandsema, J, Bruno, C, Burnette, W, Butterfield, R, Byrne, B, Carlo, J, Chandratre, S, Comi, G, Connolly, A, De Groot, I, Deconinck, N, Dooley, J, Dubrovsky, A, Durigneux, J, Finkel, R, Frank, Lm, Harper, A, Hattori, A, Herguner, O, Iannaccone, S, Janas, J, Jong, Yj, Komaki, H, Kuntz, N, Lee, Wt, Leung, E, Mah, J, Cm, M, Mercuri, E, Mcmillan, H, Mueller-Felber, W, Lopez de Munain, A, Nakamura, A, Niks, E, Ogata, K, Pascual, S, Pegoraro, E, Pereon, Y, Renfroe, B, Sanka, Rb, Schallner, J, Sendra, Ii, Servais, L, Smith, E, Sparks, S, Victor, R, Wicklund, M, Wilichoswki, E, Wong, B.
Publikováno v: Muscle & Nerve
Introduction In this study we characterized disease progression over 48 weeks among boys receiving deflazacort vs prednisone/prednisolone placebo arm treatment in two recent Duchenne muscular dystrophy (DMD) clinical trials. Methods Ambulatory boys w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226b242305b42902003713d1980f97f5
https://doi.org/10.1002/mus.26736
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2
The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy
Autor: 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, Ataluren Phase 2b Study Grp
Publikováno v: Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
ObjectiveTo evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD).MethodsWe investigated the relationship between normalized digit-span forward (d-sf) and digit-span b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9c9c74216e66383cd737eb4c0124148
https://doi.org/10.1212/wnl.0000000000006245
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4
Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM
Autor: Klingels, K, Mayhew, AG, Mazzone, ES, Duong, T, Decostre, V, Werlauff, U, Vroom, E, Mercuri, E, Goemans, NM, Group, Upper Limb Clinical Outcome
Aim To develop a patient‐reported outcome measure (PROM) assessing upper limb function related to activities of daily living (ADL) that cannot be observed in a clinical setting, specifically for patients with Duchenne muscular dystrophy (DMD) acros
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d6f515704a360a329127ed21b3288d
http://hdl.handle.net/11570/3097245
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8
Akademický článek
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9
Akademický článek
Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study.
Autor: Crawford TO; Johns Hopkins Medical, Baltimore, MD, United States., Day JW; Stanford Neuroscience Health Center, Palo Alto, CA, United States., De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, United States., Krueger JM; Helen DeVos Children's Hospital, Grand Rapids, MI, United States., Mercuri E; Centro Clinico NeMO, Fondazione Policlinico Gemelli, IRCCS, Rome, Italy.; Pediatric Neurology and Psychiatry, Catholic University, Rome, Italy., Nascimento A; Neuromuscular Unit, Department of Neurology, Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu (CIBERER), Barcelona, ISCIII, Esplugues de Llobregat, Spain., Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Mazzone ES; Centro Clinico NeMO, Fondazione Policlinico Gemelli, IRCCS, Rome, Italy., Duong T; Stanford Neuroscience Health Center, Palo Alto, CA, United States., Song G; Scholar Rock, Inc., Cambridge, MA, United States., Marantz JL; Scholar Rock, Inc., Cambridge, MA, United States., Baver S; Scholar Rock, Inc., Cambridge, MA, United States., Yu D; Scholar Rock, Inc., Cambridge, MA, United States., Liu L; Scholar Rock, Inc., Cambridge, MA, United States., Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Publikováno v: Frontiers in neurology [Front Neurol] 2024 Jul 22; Vol. 15, pp. 1419791. Date of Electronic Publication: 2024 Jul 22 (Print Publication: 2024).
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10
Akademický článek
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.
Autor: Coratti G; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Pane M; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Brogna C; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy., Bello L; Department of Neurosciences, University of Padua, Padua, Italy., Sansone VA; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Albamonte E; The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy., Ferraroli E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Mazzone ES; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Fanelli L; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Sframeli M; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cicala G; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Capasso A; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Ricci M; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Frosini S; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy., De Luca G; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Rolle E; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Turin, Italy., De Sanctis R; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy., Forcina N; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Norcia G; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Passamano L; Cardiomiology and Medical Genetics, Luigi Vanvitelli University Hospital, Naples, Italy., Scutifero M; Cardiomiology and Medical Genetics, Luigi Vanvitelli University Hospital, Naples, Italy., Gardani A; Child and Adolescence Neurological Unit, National Neurological Institute Casimiro Mondino Foundation, IRCCS, IRCCS Mondino Foundation, Pavia, Italy., Pini A; Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy., Monaco G; Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy., D'Angelo MG; NeuroMuscular Unit, IRCCS Eugenio Medea, Bosisio Parini, Italy., Leone D; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy., Zanin R; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Vita GL; Unit of Neurology, IRCCS Centro Neurolesi Bonino-Pulejo - P.O. Piemonte, Messina, Italy., Panicucci C; Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health-DINOGMI, Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini IRCCS, University of Genova, Genova, Italy., Bruno C; Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health-DINOGMI, Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini IRCCS, University of Genova, Genova, Italy., Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Turin, Italy., Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Turin, Italy., Berardinelli A; Child and Adolescence Neurological Unit, National Neurological Institute Casimiro Mondino Foundation, IRCCS, IRCCS Mondino Foundation, Pavia, Italy., Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Italy., Masson R; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Baranello G; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Dosi C; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Nigro V; Department of Precision Medicine, Luigi Vanvitelli and Telethon Institute of Genetics and Medicine, University of Campania, Italy., Politano L; Cardiomiology and Medical Genetics, Luigi Vanvitelli University Hospital, Naples, Italy., Mercuri E; Centro Clinico Nemo, IRCCS, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: eugeniomaria.mercuri@unicatt.it.
Publikováno v: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 75-82. Date of Electronic Publication: 2023 Dec 03.
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