Revised upper limb module for spinal muscular atrophy: 12 month changes

Autor: Pera, Maria Carmela, Coratti, Giorgia, Mazzone, Es, Montes, J, Scoto, M, De Sanctis, Roberto, Main, M, Mayhew, A, Muni Lofra, R, Dunaway Young, S, Glanzman, Am, Duong, T, Pasternak, A, Ramsey, D, Darras, B, Day, Jw, Finkel, Rs, De Vivo DC, Sormani, Mp, Bovis, F, Straub, V, Muntoni, F, Pane, Marika, Mercuri, Eugenio Maria, iSMAC Consortium Group

The aim of the study was to assess 12 month changes in upper limb function in patients affected by spinal muscular atrophy type 2 and 3.Longitudinal 12 month data was collected in 114 patients, 60 type 2 and 54 type 3, using the Revised Upper Limb Mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::700ed2d77d4233543df52ba60bda791d
http://hdl.handle.net/11567/946874

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

C.2 SUNFISH parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA)

Autor: Mah, JK, Oskoui, M, Day, JW, Deconinck, N, Mazzone, E, Nascimento, A, Saito, K, Vuillerot, C, Baranello, G, Boespflug-Tanguy, O, Goemans, N, Kirschner, J, Kostera-Pruszczyk, A, Servais, L, Braid, J, Gerber, M, Gorni, K, Martin, C, Yeung, W, Scalco, RS, Mercuri, E

Publikováno v: The Canadian Journal of Neurological Sciences; June 2023, Vol. 50 Issue: Supplement 2 pS51-S52, 2p

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1)

Autor: Gonzalez, I, Ohsawa, N, Singer, Rh, Devillers, M, Ashizawa, T, Balasubramanyam, A, Cooper, Ta, Khajavi, M, LIA BALDINI AS, Miller, G, Philips, Av, Timchenko, Lt, Waring, J, Yamagata, H, Barbet, Jp, Klesert, Tr, Tapscott, Sj, Roses, Ad, Wagner, M, Baiget, M, Martorell, L, Browne, Gb, Eymard, B, Gourdon, G, Junien, C, Seznec, H, Carey, N, Gosling, M, Maire, P, Gennarelli, M, Sato, S, Ansved, T, Kvist, U, Eriksson, M, Furling, D, Chen, Ej, Housman, De, Luciano, B, Siciliano, M, Spring, N, Shimizu, M, Eddy, E, Morris, Ge, Krahe, R, Furuya, H, Adelman, J, Pribnow, D, Furutama, D, Mathieu, J, HILTON JONES, D, Kinoshita, M, Abbruzzese, C, Sinden, Rr, Wells, Rd, Pearson, Ce, Kobayashi, T, Johansson, A, Salvatori, Sergio, Perryman, B, Swanson, Ms, Gould, Fk, Harris, Se, Johnson, K, Mitchell, Am, Monckton, Dg, Winchester, Cl, Antonini, G, Day, Jw, Liquori, C, Ranum, Lpw, Westerlaken, J, Wieringa, B, Griffith, Jd, Michalowski, S, Moore, H, Hamshere, M, Korade, Z, Thornton, Ca, Jaeger, H, Lehmann, F, Moorman, Jr, Mounsey, Jp, Mahadevan, Ms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::9930c83b3c780981e51897a223be48f3
http://hdl.handle.net/11577/111540

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