Zobrazeno 1 - 10
of 248
pro vyhledávání: '"Connolly, AM"'
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
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).
There is a strong evidence-based rationale for community capacity building and community empowerment as part of a strategic response to reduce health inequalities. Within the current UK policy context, there are calls for increased public engagement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::7dcfe61a4188454d62f82c20c4e12074
https://eprints.leedsbeckett.ac.uk/id/eprint/4894/1/PuttingthePublicbackintoPublicHealthAM-SOUTH.pdf
https://eprints.leedsbeckett.ac.uk/id/eprint/4894/1/PuttingthePublicbackintoPublicHealthAM-SOUTH.pdf
Autor:
By:mendell, Jr, Goemans, N, Lowes, Lp, Alfano, Ln, Berry, K, Shao, J, Kaye, Em, Mercuri, E, Hamid, Ha, Byrne, Bj, Connolly, Am, Dracker, Ra, Frank, Lm, Heydemann, Pt, O'Brien, Kc, Sparks, Se, Specht, La, Rodino Klapac, L, Sahenk, Z, Al Zaidy, S, Cripe, Lh, Lewis, S, Pane, M, Mazzone, E, Messina, S, Vita, Gl, D'Amico, A, Bertini, Es, Berardinelli, A, Torrente, Y, Magri, F, Comi, Gp, Baranello, G, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Bruno, C, Previtali, S., POLITANO, Luisa
Objective To continue evaluation of the long-term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with Duchenne muscular dystrophy (DMD). Three-year progression of eteplirsen-treate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3977::027a10cc49cb7867ce56abc9310616ea
http://hdl.handle.net/11591/368616
http://hdl.handle.net/11591/368616
Autor:
Mendell, Jerry R, Goemans, Nathalie, Lowes, Linda P, Alfano, Lindsay N, Berry, Katherine, Shao, James, Kaye, Edward M, Mercuri, Eugenio, Pane, M, Mazzone, E, Messina, S, Vita, Gl, D'Amico, A, Berardinelli, A, Torrente, Y, Magri, F, Comi, Gp, Baranello, G, Mongini, Tiziana Enrica, Pini, A, Battini, R, Pegoraro, E, Bruno, C, Politano, L, Previtali, S, Hamid, Ha, Byrne, Bj, Connolly, Am, Dracker, Ra, Frank, Lm, Heydemann, Pt, O'Brien, Kc, Sparks, Se, Specht, La, Rodino Klapac, L, Sahenk, Z, Al Zaidy, S, Cripe, Lh, Lewis, S.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______970::4ac3f24e77a0397838ce93b03f416b08
http://hdl.handle.net/2318/1542044
http://hdl.handle.net/2318/1542044
Autor:
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG
Publikováno v:
HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::434359635dd96e0d98098c4d42de53f2
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1753
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1753
Autor:
Spurney, Cf, Rocha, Ct, Henricson, E, Florence, J, Mayhew, J, Gorni, K, Pasquali, Livia, Pestronk, A, Martin, Gr, Hu, F, Nie, L, Connolly, Am
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3728::bd405f78321e6b7bb9ad313c4e2a8d67
http://hdl.handle.net/11568/147764
http://hdl.handle.net/11568/147764
Autor:
Escolar, Dm, Buyse, G, Henricson, E, Leshner, R, Florence, J, Mayhew, J, Tesi Rocha, C, Gorni, K, Pasquali, Livia, Patel, Km, Mccarter, R, Huang, J, Mayhew, T, Bertorini, T, Carlo, J, Connolly, Am, Clemens, Pr, Goemans, N, Iannaccone, St, Igarashi, M, Nevo, Y, Pestronk, A, Subramony, Sh, Vedanarayanan, Vv, Wessel, H, Cinrg, Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3728::e22c8ca0963d865cb5890042dfb77059
http://hdl.handle.net/11568/82236
http://hdl.handle.net/11568/82236
Autor:
Pegoraro, Elena, Marks, H, Garcias, Ca, Crawford, T, Mancias, P, Connolly, Am, Fanin, Marina, Martinello, Fff, Trevisan, CARLO PIETRO, Angelini, Corrado, Stella, A, Scavina, M, Munk, Rl, Servidei, S, Bonnemann, Cc, Bertorini, T, Acsadi, G, Thompson, Ce, Gagnon, D, Hoganson, G, Carver, V, Hoffman, Ep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3657::eb0727cbf6b08b7d4ddb8e8d4d9715b7
http://hdl.handle.net/11577/118106
http://hdl.handle.net/11577/118106
Publikováno v:
In The Journal of Minimally Invasive Gynecology November-December 2015 22(6) Supplement:S64-S65
Akademický článek
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