Zobrazeno 1 - 10
of 19
pro vyhledávání: '"J. Mozzoni"'
Publikováno v:
Journal of Neuromuscular Diseases. 7:453-458
Background: SMA1 natural history is characterized by early development of chronic respiratory failure. Respiratory interventions in type 1 SMA infants are subject to great practice variability. Nusinersen, has been recently approved in Argentina. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b6bd9b769e8e30a26b1047e91b1066b
https://doi.org/10.3233/jnd-200508
https://doi.org/10.3233/jnd-200508
Akademický článek
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Autor:
P. Gravina, F. De Castro, I. Esteban, J. Mozzoni, M.S. Monges, Hilda Verónica Aráoz, Y. Cantillo, V. Aguerre
Publikováno v:
A26. PEDIATRIC SLEEP I.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7f6a47f14702ef4721303a4fc76fef9
https://doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1164
https://doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1164
Autor:
A. Gallo, M. Foncuberta, F. de Castro, Antonio Crespo, J. Mozzoni, Fabiana Lubieniecki, P. Gravina, Soledad Monges, L. Chertkoff, V. Araoz, V. Aguerre
Publikováno v:
Neuromuscular Disorders. 29:S171
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e5f56517886538f32c0ed20bc6b6062
https://doi.org/10.1016/j.nmd.2019.06.469
https://doi.org/10.1016/j.nmd.2019.06.469
Autor:
P. Gravina, V. Leske, Jocelyn Laporte, Xavière Lornage, M. de Castro, J. Mozzoni, Soledad Monges, V. Aguerre, Norma B. Romero, Johann Böhm, M. Guerdile
Publikováno v:
Neuromuscular Disorders. 29:S94
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ee4fc3989c1d42e6aef4336a92f8792
https://doi.org/10.1016/j.nmd.2019.06.211
https://doi.org/10.1016/j.nmd.2019.06.211
Autor:
S. Monges, J. Mozzoni, M. Franchi, S. Medrano, L. Gravina, H. Aráoz, F. de Castro, V. Aguerre, L. Alías, L. Chertkoff, E. Tizzano, S. Bernal
Publikováno v:
Neuromuscular Disorders. 28:S55
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9342492efdeace727fd18edae064ff63
https://doi.org/10.1016/j.nmd.2018.06.112
https://doi.org/10.1016/j.nmd.2018.06.112
Autor:
J. Mozzoni, Soledad Monges, Ana Lia Taratuto, E. Foncuberta, M. Saccoliti, Fabiana Lubieniecki, M. de Castro, A. Schenone
Publikováno v:
Neuromuscular Disorders. 26:S108
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d83fe8b56858bd8fda04f99172c98059
https://doi.org/10.1016/j.nmd.2016.06.085
https://doi.org/10.1016/j.nmd.2016.06.085
Autor:
F. Castro, Ana Lia Taratuto, M. Saccoliti, V. Leske, Johann Böhm, Jocelyn Laporte, Norma B. Romero, Edoardo Malfatti, P. Gravina, J. Mozzoni, Fabiana Lubieniecki, Soledad Monges
Publikováno v:
Neuromuscular Disorders. 24:896-897
Nebulin (NEB) is a sarcomeric structural protein. Mutations in NEB genes particularly cause autosomal recessive nemaline myopathy (NM) and core-rod myopathy. Clinical presentations range from a severe neonatal form to a mild adult-onset form as part
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61198c67a29e456a8f390f1794be8346
https://doi.org/10.1016/j.nmd.2014.06.341
https://doi.org/10.1016/j.nmd.2014.06.341
Autor:
Ana Lia Taratuto, N. Pozzo, A. Moresco, C. Bouchet Seraphin, M. de Castro, Norma B. Romero, V. Aguerre, Fabiana Lubieniecki, E. Foncuberta, J. Mozzoni, Soledad Monges
Publikováno v:
Neuromuscular Disorders. 24:899-900
Mutations in the FKRP gene account for a broad spectrum of patients ranging from CMD to the much milder LGMD2I. We describe the first 3 children with FKRP muscular dystrophy from Argentina. In all of them muscular dystrophy with deficit of alpha-dyst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7773cbf82da073e05b3ac789c206133
https://doi.org/10.1016/j.nmd.2014.06.351
https://doi.org/10.1016/j.nmd.2014.06.351
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.