Treatment with Ataluren for Duchene Muscular Dystrophy

Autor: Mercuri, E, Muntoni, F, Osorio, An, Tulinius, M, Buccella, F, Morgenroth, Lp, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, J, Kristensen, A, Santos, Cl, Henricson, Ek, Mcdonald, Cm, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintovà, Z, Danhofer, P, Fabulovà, P, Jurıkovà, L, Fuchsovà, P, Haberlovà, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Péréon, 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, Lv, 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, Jb, 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, E, 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, Gl, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, 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, Wd, Mcadam, Lc, Mah, Jh, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, Rt, Joyce, Nc, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, Pr, Abdel-Hamid, H, Connolly, Am, Pestronk, A, Teasley, J, Harper, A, Bertorini, Te, Kuntz, N, Driscoll, S, Day, Jw, Karachunski, P, Lotze, T.

Publikováno v: Pediatric Neurology Briefs
Journal of Comparative Effectiveness Research

Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c3d73c52768050ba6c0561d601a50f
http://europepmc.org/articles/PMC7718099

Genetic modifiers of ambulation in the CINRG duchenne natural history study

Autor: Bello, Luca, Kesari, A, Gordish Dressman, H, Cnaan, A, Morgenroth, Lp, Punetha, J, Duong, T, Henricson, Ek, Pegoraro, Elena, Mcdonald, Cm, Hoffman, Ep, on behalf of the CINRG Investigators

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::954e0baaca00b92f34c8e7b9c76e2153
http://hdl.handle.net/11577/3108512

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Gait Characterization in Duchenne Muscular Dystrophy (DMD) Using a Single-Sensor Accelerometer: Classical Machine Learning and Deep Learning Approaches.

Autor: Ramli AA; Department of Computer Science, School of Engineering, University of California, Davis, CA 95616, USA., Liu X; Department of Computer Science, School of Engineering, University of California, Davis, CA 95616, USA., Berndt K; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Goude E; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Hou J; Department of Electrical and Computer Engineering, School of Engineering, University of Waterloo, Waterloo, ON N2L 3G1, Canada., Kaethler LB; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Liu R; Department of Computer Science, School of Engineering, University of California, Davis, CA 95616, USA., Lopez A; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Nicorici A; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Owens C; UC Davis Center for Health and Technology, University of California, Davis, CA 95616, USA., Rodriguez D; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Wang J; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Zhang H; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Aranki D; Berkeley School of Information, University of California Berkeley, Berkeley, CA 94720, USA., McDonald CM; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA., Henricson EK; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.; Graduate Group in Computer Science (GGCS), University of California, Davis, CA 95616, USA.

Publikováno v: Sensors (Basel, Switzerland) [Sensors (Basel)] 2024 Feb 08; Vol. 24 (4). Date of Electronic Publication: 2024 Feb 08.

Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.

Autor: Mercuri E; Department of Pediatric Neurology, Catholic University, Rome, Italy. eugeniomaria.mercuri@unicatt.it.; Centro Clinico Nemo, Fondazione Policlinico Agostino Gemelli IRCCS, Rome, Italy. eugeniomaria.mercuri@unicatt.it., Osorio AN; Neuromuscular Unit, Department of Neurology and Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain., Muntoni F; UCL Great Ormond Street Institute of Child Health, London, UK.; National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, UK., Buccella F; Parent Project APS, Rome, Italy., Desguerre I; Hôpital Necker-Enfants Malades, Paris, France., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany., Tulinius M; Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden., de Resende MBD; Department of Neurology, Faculty of Medicine, University of São Paulo, São Paulo, SP, Brazil., Morgenroth LP; Therapeutic Research in Neuromuscular Disorders Solutions (TRiNDS), Pittsburgh, PA, USA., Gordish-Dressman H; Center for Genetic Medicine, Children's National Health System and the George Washington, Washington, DC, USA., Johnson S; PTC Therapeutics Inc., South Plainfield, NJ, USA., Kristensen A; PTC Therapeutics Inc., South Plainfield, NJ, USA., Werner C; PTC Therapeutics Germany GmbH, Frankfurt, Germany., Trifillis P; PTC Therapeutics Inc., South Plainfield, NJ, USA., Henricson EK; University of California Davis School of Medicine, Davis, CA, USA., McDonald CM; University of California Davis School of Medicine, Davis, CA, USA.

Publikováno v: Journal of neurology [J Neurol] 2023 Aug; Vol. 270 (8), pp. 3896-3913. Date of Electronic Publication: 2023 Apr 28.