Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Montes, J. A."'
Autor:
Coratti G, Lucibello S, Pera MC, Duong T, Muni Lofra R, Civitello M, D'Amico A, Goemans N, Darras BT, Bruno C, Sansone VA, Day J, Nascimento-Osorio A, Muntoni F, Montes J, Sframeli M, Finkel R, Mercuri E, ISMAC group
Publikováno v:
NEUROMUSCULAR DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
The advent of clinical trials in spinal muscular atrophy (SMA) has highlighted the need to define patterns of progression using functional scales. It has recently been suggested that the analysis of abilities gained or lost applied to functional scal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::793fcfcf196c0ca17507c51a414f7289
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18346
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18346
Autor:
Coratti G, Pera MC, Lucibello S, Montes J, Pasternak A, Mayhew A, Glanzman AM, Young SD, Pane M, Scoto M, Messina S, Goemans N, Nascimento-Osorio A, Pedemonte M, Sansone V, Bertini E, De Vivo DC, Finkel R, Muntoni F, Mercuri E, ISMAC group and collaborators.
Publikováno v:
NEUROMUSCULAR DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
The aim of this retrospective study was to establish the range of functional changes at 12 and 24-month in 267 type 2 Spinal Muscular Atrophy (SMA) patients with multiple assessments. We included 652 Hammersmith Functional Motor Scale Expanded (HFMSE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8823e2a145f5a368345e12a445ff5120
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18345
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18345
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
http://hdl.handle.net/11567/946874
Autor:
Vogt, Sibylle, Krueger, Marcus, Pechmann, Astrid, Rippberger, Bianca, Eckenweiler, Matthias, Schara, Ulrike, Koelbel, Heike, Andres, Barbara, Rupprich, Katrin, Gangfuss, Andrea, Jachertz, Philipp, Della Marina, Adela, Sponemann, Nina, Pane, Markia, Palermo, Concetta, Piastra, Marco, Fanelli, Lavinia, de Sanctis, Roberto, Genovese, Orazio, Antonaci, Laura, Pera, Maria Carmela, Lamendola, Priscilla, Messina, Sonia, Vita, Gianluca, Di Bella, Vincenzo, Sframeli, Maria, Rosa, Matteo, Barcellona, Costanza, Distefano, Maria Grazia, Cavallaro, Filippo, Versaci, Antonio, de Luca, Francesco, Vita, Giuseppe, Nacimento Osorio, Andres, Tizzano, Eduardo, Ortez Gonzalez, Carlos Ignacio, Ortigoza Escobar, Juan Dario, Colomer Oferil, Juame, Medina Cantillo, Julita, Febrer Rotger, Anna, Vigo Morancho, Meritxell, Eldblom, Johanneh, Darin, Niklas, Kroksmark, Anna Karin, Lindstedt, Asa, Michael, Eva, Kimber, Eva, Wahlgren, Lisa, Chan, Sophelia Hoi-Shan, Chim, Stella, Chiu, Joseph, Ho, Alvin Chi Chung, Ip, Jing Kun Janice, Lam, Wendy Wai Man, Ng, Maggie Chui-San, Wan, Connie, Wong, Virginia Chun Nei, Yue, Yvonne, Arakawa, Reiko, Yamauchi, Akemi, Nagata, Satoru, Ito, Yasushi, Nakatsukasa, Hidetsugu, Takeshita, Akiko, Hirasawa, Kyoko, Ikai, Tetsuo, Eto, Kaoru, Otamni, Yui, Takeshima, Yasuhiro, Fukuda, Noroki, Tanaka, Yasuhiro, Shimomura, Hideki, Lee, Tomoko, Shibano, Takayuki, Mercuri, E., Tachikawa, Tomohiro, Darras, B. T., Chae, Jong-Hee, Chiriboga, C. A., Lim, Byung Chan, Day, J. W., Shin, Hyung-Ik, Campbell, C., Kim, Soo Yeon, Connolly, A. M., Choi, Sun Ah, Iannaccone, S. T., Son, Woo Sung, Kirschner, J., Jo, Hyemi, Kuntz, N. L., Chun, Seong Min, Saito, K., Kim, Hyuna, Shieh, P. B., Tulinius, M., Mazzone, E. S., Montes, J., Bishop, K. M., Yang, Q., Foster, R., Gheuens, S., Bennett, C. F., Farwell, W., Schneider, E., de Vivo, D. C., Finkel, R. S., Bradley, Walter G., Kaufmann, Petra, Dickson, Patricia I., Reingold, Stephen C., Davis, Charles S., Arredondo, Kristen, Castro, Diana, Cowie, Margaret, Farrow-Gillespie, Alan, Hebert, Andrew, Kauk, Melissa, Miller, Nancy, Nelson, Leslie, Spain, Thomas, Cappell, Joshua, Constantinescu, Andrei, Cruz, Rosangel, Dastgir, Jahannaz, de Vivo, Darryl, Dunaway, Sally, Engelstad, Kristin, Khandji, Alexander G., Kramer, Samantha, Marra, Jonathan, Popolizio, Molly, Salazar, Rachel, Weimer, Louis H., Aziz-Zaman, Sonya, Lamarca, Nicole, Ghosh, Partha, Al-Ghamdi, Fouad, Liew, Wendy, Graham, Robert, Berde, Charles, Sethna, Navil, Koka, Anjali, Wang, Luke, Laine, Regina, Souris, Michelle, Ordonez, Grace, Harrington, Timothy, Szelag, Heather, Pasternak, Amy, Mirek, Elizabeth, Quigley, Janet, Finkel, Richard, Berry, Debbie, Civitello, Matthew, Endsley, Julie Duke, Eden, Candace, Leon, Wendy, O'Reardon, Kathleen, Sigurdardottir, Laufey, Johnson, Craig, Turner, Jenna, Vega, Melisa, Weber-Guzman, Fabiola, Zinn, Matthias, Rocha, Ana Carolina Tesi, Watson, Karolina, d'Souza, Genevieve, Ramamurthi, R. J., Gee, Richard, Kitsuwa-Lowe, Janis, Hagerman, Katharine, Crasta, Sheela, Welsh, Lesly, Paulose, Shirley, Mcfall, Danielle, Perez, Jennifer, Patnaik, Swetapadma, Sanjanwala, Bharati, Sakamuri, Sarada, Proud, Crystal, Purse, Bona Park, Duong, Trinh Tina, Sampson, Jacinda, Tennekoon, Gihan, Brandsema, John, Glanzman, Allan, Flickinger, Jean, Toms, Michele, Adang, Laura, Stanford, Delores, Mayer, Oscar, Zigmont, Joshua, Chadehumbe, Madeline, Kichula, Elizabeth, Finanger, Erika, Russman, Barry, Roberts, Colin, Frank, Andrea, Benjamin, Danielle, Zilke, Kirsten, Golumbek, Paul T., Zaidman, Craig M., Anand, Pallavi, Gadeken, Rebecca, Siener, Catherine, Kuntz, Nancy, Epstein, Leon, Krueger, Jena, Goldman, Stewart, Krosschell, Kristin, Blomgren, Colleen, Choi, Hyoung Won, Kurz, Jonathan, Parsons, Julie, Janas, Joanne, Yang, Michele, Ballard, Alison, Carry, Terri, Shea, Stephanie, Bielsky, Alan, Booker, Kaylee, Camuto, Alicia, Lord-Halvorson, Sierra, Gibbons, Melissa, Zimmerman, Carl, Allen, Victoria, Fuhr, Peter, Johnson, Hannah, Tran, Vi, Vanderveen, Gina, Shieh, Perry, Fowler, Eileen, Parziale, Nicholas, Rao, Lekha, Skura, Christy, Kelley, Carolyn, Shu, Francy, Oskoui, Maryam, Zielinski, David, Poulin, Chantal, Ingelmo, Pablo Mauricio, Desilets, Sarah Turgeon, Dinunzio, Pamela, Rivera, Gonzalo, Srour, Myriam, Arpin, Stephanie, Goobie, Sharan, Gibson, Paul, Scholtes, Cheryl, Mcdonald, Wendy, Zapata, Eugenio, Nguyen, Cam-Tu Emilie, Servais, Laurent, Gargaun, Elena, Le Moing, Anne-Gaelle, Gidaro, Teresa, Vialle, Raphael, Guye, Marie-Laurence, Lilien, Charlotte, Olliver, Gwenn, Gilabert, Stephanie, Borell, Sabine, Wider, Sabine, Stein, Sabine
Publikováno v:
New England Journal of Medicine
New England Journal of Medicine, 2018, 378 (7), pp.625-635. ⟨10.1056/NEJMoa1710504⟩
Paediatrics Publications
New England Journal of Medicine, 2018, 378 (7), pp.625-635. ⟨10.1056/NEJMoa1710504⟩
Paediatrics Publications
Background: Nusinersen is an antisense oligonucleotide drug that modulates pre–messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA). Methods: We conducted a mult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f6453d0d091afe40c323e12c1408142
http://hdl.handle.net/10807/117760
http://hdl.handle.net/10807/117760
Autor:
Montes, J., Young, S. D., Mazzone, Elena Stacy, Main, M., Bartels, B., Civitello, M., Coratti, Giorgia, Duong, T., Estilow, T., Gee, R., Glanzman, A. M., Kitsuwa-Lowe, J., Mayhew, A., Mazzone, E., Mirek, E., Lofra, R. M., Pandya, S., Pasternak, A., Ramsey, D., Salazar, R., Turner, J., Wells, J.
Publikováno v:
Neuromuscular Disorders, 27(10), 964. Elsevier Limited
Twenty-one physical and occupational therapists from the USA and Europe (Italy, United Kingdom and Netherlands) met in Dallas, Texas USA on October 16 and 17, 2016. The purpose of this meeting was to review the current landscape of rehabilitation man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::80d4651c52420fa65064ee4a97ad8c2c
https://dspace.library.uu.nl/handle/1874/358386
https://dspace.library.uu.nl/handle/1874/358386
Autor:
Finkel, R, Bertini, Enrico Silvio, Muntoni, F, Mercuri, Eugenio Maria, Chen, K, Kirschner, J, De Lemus, M, Hogrel, Jy, Khwaja, O, Main, M, Mazzone, E, Montes, J, Ramsey, D, Sejersen, T, Sumner, C, Swoboda, K, Tiziano, Francesco Danilo, Tseng, B, Van Der Pol, L, Villerot, C, Wirth, B, Witchen, A, Yeh, Ws, Zittersteijn, A.
Publikováno v:
Neuromuscular Disorders. 25:593-602
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands Richard Finkel *, Enrico Bertini , Francesco Muntoni , Eugenio Mercuri d on behalf of the ENMC
Autor:
Montes, J.1 (AUTHOR), Coratti, G.2 (AUTHOR), Scoto, M.3 (AUTHOR), Balashkin, J.4 (AUTHOR), Pera, M.2 (AUTHOR), Samsuddin, S.3 (AUTHOR), Martens, W.5 (AUTHOR), Bozzardi, A.6 (AUTHOR), Rodriguez, A.4 (AUTHOR), Civitello, M.7 (AUTHOR), Madden, M.3 (AUTHOR), Lings, B.8 (AUTHOR), Rohwer, A.3 (AUTHOR), Hall, S.9 (AUTHOR), Zolkipli, Z.10 (AUTHOR), Day, J.11 (AUTHOR), Darras, B.12 (AUTHOR), De Vivo, D.1 (AUTHOR), Muntoni, F.3 (AUTHOR), Finkel, R.7 (AUTHOR)
Publikováno v:
Neuromuscular Disorders. 2021 Supplement 1, Vol. 31, pS126-S126. 1p.
Publikováno v:
Neuromuscular Disorders. Oct2016 Supplement 2, Vol. 26, pS103-S104. 1p.
Autor:
Dunaway Young, S.1, Montes, J.1, Salazar, R.1, Glanzman, A.2, Pasternak, A.3, Quigley, J.3, Ciurylo, E.3, Riley, S.3, Martens, W.4, Gee, R.5, Duong, T.5, Civitello, M.6, Chiriboga, C.1, Tennekoon, G.2, Day, J.5, Finkel, R.6, Darras, B.3, De Vivo, D.1
Publikováno v:
Neuromuscular Disorders. Oct2016 Supplement 2, Vol. 26, pS104-S104. 1p.
Autor:
Finkel, R. S.1, Tizzano, E.2, Topaloglu, H.3, Tulinius, M.4, Glanzman, A. M.5, Bishop, K.6, Bennett, C. F.6, Schneider, E.6, Zhong, Z. J.7, Gheuens, S.7, Farwell, W.7, De Vivo, D. C.8, Mercuri, E.9, Darras, B. T.9, Connolly, A. M.9, Kuntz, N. L.9, Kirschner, J.9, Chiriboga, C. A.9, Montes, J.9, Saito, K.9
Publikováno v:
New England Journal of Medicine. 11/2/2017, Vol. 377 Issue 18, p1723-1732. 10p.