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Assessment of disease progression in dysferlinopathy: a 1-year cohort study

Autor: Moore, U., Jacobs, Marni, James, Meredith K, Mayhew, A. G., Fernandez-Torron, Roberto, Feng, J., Cnaan, A., Eagle, M., Bettinson, K., Rufibach, L. E., Lofra, R. M., Blamire, A. M., Carlier, P. G., Mittal, P., Lowes, L. P., Alfano, L., Rose, K., Duong, T., Berry, K. M., Montiel-Morillo, E., Pedrosa-Hernández, I., Holsten, S., Sanjak, M., Ashida, A., Sakamoto, C., Tateishi, T., Yajima, H., Canal, A., Ollivier, G., Decostre, V., Mendez, J. B., Praxedes, N. S. A., Thiele, S., Siener, C., Shierbecker, J., Florence, J. M., Vandevelde, B., Dewolf, B., Hutchence, M., Gee, R., Prügel, J., Maron, E., Hilsden, Heather, Lochmüller, H., Grieben, U., Spuler, Simone, Rocha, C. T., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, Emmanuelle, Harms, M., Pestronk, Alan, Krause, S., Schreiber-Katz, Olivia, Walter, M. C., Paradas, C., Hogrel, J. Y., Stojkovic, T., Takeda, S., Mori-Yoshimura, M., Bravver, Elena, Sparks, S., Diaz-Manera, Jordi., Bello, Luca, Semplicini, C., Pegoraro, E., Mendell, J. R., Bushby, Kate, Straub, V., Universitat Autònoma de Barcelona

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
instname

Jain COS Consortium.
[Objective] To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.
[Methods] One hundred ninety-three patients with dysferlinopathy were recruited to the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e203882245b6c4704b1e13b41dad1cae
http://edoc.mdc-berlin.de/17999/1/17999oa.pdf

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