Zobrazeno 1 - 10
of 127
pro vyhledávání: '"E. Matesanz"'
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1868-1878 (2024)
Abstract Objective Compare efficacy of gene therapy alone (monotherapy) or in combination with an SMN2 augmentation agent (dual therapy) for treatment of children at risk for spinal muscular atrophy type 1. Methods Eighteen newborns with biallelic SM
Externí odkaz:
https://doaj.org/article/4ddf28380abb4bf0a001a61c9438b3a9
Autor:
Erika J. Mejia, Kimberly Y. Lin, Oluwatimilehin Okunowo, Katherine A. Iacobellis, Susan E. Matesanz, John F. Brandsema, Carol A. Wittlieb‐Weber, Hannah Katcoff, Heather Griffis, Jonathan B. Edelson
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 8 (2022)
Background Duchenne and Becker muscular dystrophy are progressive disorders associated with cardiac mortality. Guidelines recommend routine surveillance; we assess cardiac resource use and identify gaps in care delivery. Methods and Results Male pati
Externí odkaz:
https://doaj.org/article/104c62123f5d4c9a9700c826e2679049
Autor:
John F. Brandsema, Susan E. Matesanz
Publikováno v:
Pulmonary Assessment and Management of Patients with Pediatric Neuromuscular Disease ISBN: 9780323957472
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d65d8b784200c5ed5730c850be889f6
https://doi.org/10.1016/b978-0-323-95747-2.00011-2
https://doi.org/10.1016/b978-0-323-95747-2.00011-2
Autor:
Jason Ackrivo, Reshma Amin, Heather Boas, John F. Brandsema, Pi Chun Cheng, Jonathan Finder, Robert J. Graham, Neepa Gurbani, Sherri Lynne Katz, Oren Kupfer, Jia Liu, Susan E. Matesanz, Oscar Henry Mayer, Kristen Miller, John E. Pascoe, Gregory Redding, Hemant Sawnani, Richard Shell, Jenny Yue Shi, Aaron St-Laurent, Michael A. Storey, Danna Tauber, Federica Trucco, Katharine Tsukahara, David Zielinski
Publikováno v:
Pulmonary Assessment and Management of Patients with Pediatric Neuromuscular Disease ISBN: 9780323957472
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::543e5a52d53fdc95fb9498d150650e7e
https://doi.org/10.1016/b978-0-323-95747-2.09992-4
https://doi.org/10.1016/b978-0-323-95747-2.09992-4
Autor:
Leslie Raffini, Oscar H. Mayer, Alicia M. Alcamo, Kathleen M. Loomes, Susan E. Matesanz, Sabrina W. Yum, Hilary B. Whitworth, Jeremy M. Neese
Publikováno v:
Neuromuscular Disorders. 31:651-655
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy characterized by profound hypotonia and poor respiratory effort at birth. The condition is associated with multiple morbidities including chronic respiratory insufficiency, feeding tu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::388f8312991b9f5a81a19f772f33b4fb
https://doi.org/10.1016/j.nmd.2021.04.009
https://doi.org/10.1016/j.nmd.2021.04.009
Publikováno v:
Pediatric Neurology. 118:1-5
Background Onasemnogene abeparvovec was recently approved for the treatment of spinal muscular atrophy (SMA) in children younger than two years; however, clinical trials were primarily completed in children younger than seven months, so practical exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f54eb6381f4a33b1e9496b6e162d331
https://doi.org/10.1016/j.pediatrneurol.2021.01.012
https://doi.org/10.1016/j.pediatrneurol.2021.01.012
Autor:
María Hernando, José M. González-Calbet, Marina Parras, Christel Laberty-Robert, Aurea Varela, Gwenaëlle Rousse, José Luis Martínez, Laura Serrador, David Portehault, María Teresa Fernández-Díaz, Francisco Gonell, E. Matesanz, Clément Sanchez, Isabel Gómez-Recio, Almudena Torres-Pardo
Publikováno v:
Chemistry of Materials
Chemistry of Materials, American Chemical Society, 2020, 32 (24), pp.10584-10593. ⟨10.1021/acs.chemmater.0c03673⟩
Chemistry of Materials, American Chemical Society, 2020, 32 (24), pp.10584-10593. ⟨10.1021/acs.chemmater.0c03673⟩
International audience; Contrary to molecular species, only very few solids are reported to host manganese (V) species. Herein, we report three new compounds with a hydroxyapatite structural backbone built on the Mn V O 4 3− anion: Sr 5 [(Mn 1−x
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3f4067720cae04cade2ccd1a1f38c7
https://doi.org/10.1021/acs.chemmater.0c03673
https://doi.org/10.1021/acs.chemmater.0c03673
Autor:
Brianna Gross, Rebecca L. Linn, Adam I. Rubin, Susan E. Matesanz, Elizabeth Kichula, Sabrina W. Yum, Candace Curry
Publikováno v:
Journal of Child Neurology. 35:717-723
Spinal muscular atrophy type 0 is the most severe phenotype of the disease, with patients presenting with contractures, weakness, and respiratory failure at birth, and is typically fatal within weeks. We describe the case of a patient with spinal mus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401b7dfedd70f190b700a72f2d06d983
https://doi.org/10.1177/0883073820928784
https://doi.org/10.1177/0883073820928784
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
José Luis Martínez, Daniel González-Merchante, Raquel Cortés-Gil, E. Matesanz, José M. González-Calbet, Jose M. Alonso, Jacobo Santamaria, M. Luisa Ruiz-González, Alberto Rivera-Calzada
Publikováno v:
E-Prints Complutense: Archivo Institucional de la UCM
Universidad Complutense de Madrid
E-Prints Complutense. Archivo Institucional de la UCM
instname
Universidad Complutense de Madrid
E-Prints Complutense. Archivo Institucional de la UCM
instname
Ruddlesden–Popper oxides, (AO)(ABO3) n , occupy a prominent place in the landscape of materials research because of their intriguing potential applications. Compositional modifications to the cation sublattices, A or B, have been explored in order
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fa9f1bbdbe239961de1f34ed988be4
https://doi.org/10.1107/s2053273319006089
https://doi.org/10.1107/s2053273319006089