Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Elena Mazzone"'
Autor:
Tina Duong, Kristin J. Krosschell, Meredith K. James, Leslie Nelson, Lindsay N. Alfano, Katy Eichinger, Elena Mazzone, Kristy Rose, Linda P. Lowes, Anna Mayhew, Julaine Florence, Wendy King, Claudia R. Senesac, Michelle Eagle
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Critical components of successful evaluation of clinical outcome assessments (COAs) in multisite clinical trials and clinical practice are standardized training, administration, and documented reliability of scoring. Experiences of evaluators, alongs
Externí odkaz:
https://doaj.org/article/981e516b28d04a8384a87ee77f7b25aa
Autor:
Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri, on behalf on the International DMD Group and the iMDEX Consortium
Publikováno v:
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)
IntroductionThe aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.Materials and methods
Externí odkaz:
https://doaj.org/article/be2f7562560244a9a2a56400fc1fd6e8
Autor:
Claudia Brogna, Giorgia Coratti, Marika Pane, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, on behalf on the International DMD group
Publikováno v:
PLoS ONE, Vol 14, Iss 6, p e0218683 (2019)
IntroductionThe aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53.Materials and methodsOf the
Externí odkaz:
https://doaj.org/article/3932d113fabe49fdac298f216fdc150a
Autor:
Claudia Brogna, Giorgia Coratt, Marika Pane, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, on behalf on the International DMD group
Publikováno v:
PLoS ONE, Vol 14, Iss 7, p e0220714 (2019)
[This corrects the article DOI: 10.1371/journal.pone.0218683.].
Externí odkaz:
https://doaj.org/article/85386ab80a5f43bab4f75c503d378e61
Autor:
Laurent Servais, Maryam Oskoui, John Day, Nicholas Deconinck, Elena Mazzone, Andrés Nascimento, Kyoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Jessica Braid, Gergely Papp, Ksenija Gorni, Carmen Martin, Renata Scalco, Wai Yin Yeung, Eugenio Mercuri
Publikováno v:
Wednesday, April 26.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bfd5ad7b2da93cbab542167ff846ef7
https://doi.org/10.1212/wnl.0000000000203570
https://doi.org/10.1212/wnl.0000000000203570
Autor:
Eugenio Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen, Francesco Danilo Tiziano, Eduardo Tizzano, Haluk Topaloglu, Kathy Swoboda, Nigel Laing, Saito Kayoko, Thomas Prior, Wendy K. Chung, Shou-Mei Wu, Elena Mazzone, Caron Coleman, Richard Gee, Allan Glanzman, Anna-Karin Kroksmark, Kristin Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Jean Dubousset, David Farrington, Jack Flynn, Matthew Halanski, Carol Hasler, Lotfi Miladi, Christopher Reilly, Benjamin Roye, Paul Sponseller, Muharrem Yazici, Rebecca Hurst, Stacey Tarrant, Salesa Barja, Simona Bertoli, Thomas Crawford, Kevin Foust, Barbara Kyle, Lance Rodan, Helen Roper, Erin Seffrood, Kathryn Swoboda, Agnieszka Szlagatys-Sidorkiewicz
Publikováno v:
Neuromuscular Disorders. 28:103-115
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060448e3bce86a13394ec584cb841ce1
https://doi.org/10.1016/j.nmd.2017.11.005
https://doi.org/10.1016/j.nmd.2017.11.005
Autor:
Jacqueline Montes, Sally Dunaway Young, Elena Mazzone, Marion Main, Bart Bartels, Matthew Civitello, Giorgia Coratti, Tina Duong, Timothy Estilow, Richard Gee, Allan M. Glanzman, Janis Kitsuwa-Lowe, Anna Mayhew, Elizabeth Mirek, Robert Muni Lofra, Shree Pandya, Amy Pasternak, Danielle Ramsey, Rachel Salazar, Jenna Turner, Julie Wells
Publikováno v:
Neuromuscular Disorders. 27:964-969
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e6b4c5c6da0af80ee38fdd0847df9f4
https://doi.org/10.1016/j.nmd.2017.07.005
https://doi.org/10.1016/j.nmd.2017.07.005
Autor:
Volker Straub, Eugenio Mercuri, Annemieke Aartsma-Rus, Dimitrios Athanasiou, Pavel Balabanov, Filippo Buccella, Didier Caizergues, Pierre Carlier, Emily Crossley, Anne M. Connolly, Tina Duong, Dirk Fischer, Pat Furlong, Nathalie Goemans, Imelda de Groot, Michela Guglieri, Erik Henricson, Alex Johnson, Hermien E. Kan, Anna Mayhew, Elena Mazzone, Craig M. McDonald, Francesco Muntoni, Erik H. Niks, Laurent Servais, Cathy Turner, Thomas Voit, Elizabeth Vroom, Glenn Walter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc1e491810fb17a49e60a4828e4e2c1f
http://hdl.handle.net/10807/125807
http://hdl.handle.net/10807/125807
