Výsledky vyhledávání

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

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Akademický článek

A MHz X-ray diffraction set-up for dynamic compression experiments in the diamond anvil cell

Autor: Rachel J. Husband, Cornelius Strohm, Karen Appel, Orianna B. Ball, Richard Briggs, Johannes Buchen, Valerio Cerantola, Stella Chariton, Amy L. Coleman, Hyunchae Cynn, Dana Dattelbaum, Anand Dwivedi, Jon H. Eggert, Lars Ehm, William J. Evans, Konstantin Glazyrin, Alexander F. Goncharov, Heinz Graafsma, Alex Howard, Larissa Huston, Trevor M. Hutchinson, Huijeong Hwang, Sony Jacob, Johannes Kaa, Jaeyong Kim, Minseob Kim, Egor Koemets, Zuzana Konôpková, Falko Langenhorst, Torsten Laurus, Xinyang Li, Jona Mainberger, Hauke Marquardt, Emma E. McBride, Christopher McGuire, James D. McHardy, Malcolm I. McMahon, R. Stewart McWilliams, Alba S. J. Méndez, Anshuman Mondal, Guillaume Morard, Earl F. O'Bannon, Christoph Otzen, Charles M. Pépin, Vitali B. Prakapenka, Clemens Prescher, Thomas R. Preston, Ronald Redmer, Michael Roeper, Carmen Sanchez-Valle, Dean Smith, Raymond F. Smith, Daniel Sneed, Sergio Speziale, Tobias Spitzbart, Stephan Stern, Blake T. Sturtevant, Jolanta Sztuk-Dambietz, Peter Talkovski, Nenad Velisavljevic, Cara Vennari, Zhongyan Wu, Choong-Shik Yoo, Ulf Zastrau, Zsolt Jenei, Hanns-Peter Liermann

Publikováno v: Journal of Synchrotron Radiation, Vol 30, Iss 4, Pp 671-685 (2023)

An experimental platform for dynamic diamond anvil cell (dDAC) research has been developed at the High Energy Density (HED) Instrument at the European X-ray Free Electron Laser (European XFEL). Advantage was taken of the high repetition rate of the E

Externí odkaz: https://doaj.org/article/e8503fe0db1d4e95aaaebc8380438e1f

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Creatine and glutamine therapeutic trial in Duchenne muscular dystrophy (DMD) by the Cooperative International Neuromuscular Research Group (CINRG)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3728::e22c8ca0963d865cb5890042dfb77059
http://hdl.handle.net/11568/82236

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Akademický článek

Two-way tuning of structural order in metallic glasses

Autor: Hongbo Lou, Zhidan Zeng, Fei Zhang, Songyi Chen, Peng Luo, Xiehang Chen, Yang Ren, Vitali B. Prakapenka, Clemens Prescher, Xiaobing Zuo, Tao Li, Jianguo Wen, Wei-Hua Wang, Hongwei Sheng, Qiaoshi Zeng

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-9 (2020)

While metallic glasses are expected to have tunable structures, these have rarely been demonstrated. Here, the authors combine temperature and pressure to show a two-way structural tuning in rare earth-based metallic glasses beyond the nearest-neighb

Externí odkaz: https://doaj.org/article/83e2177d11314fd3a4a11002f24fe5be

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Gene therapy prospects for Duchenne muscular dystrophy

Autor: Clemens Pr, Caskey Ct

Publikováno v: European neurology. 34(4)

Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disorder caused by mutations in the dystrophin gene. The lack of adequate therapy for this disease provides impetus for the development of gene therapy strategies. A recombinant dystrop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f53f2ca44ccb47a5739da64bd81d795
https://pubmed.ncbi.nlm.nih.gov/8082675

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