Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Micaela Carcione"'
Autor:
Leonela Luce, Micaela Carcione, Chiara Mazzanti, Paula I. Buonfiglio, Viviana Dalamón, Lilia Mesa, Alberto Dubrovsky, José Corderí, Florencia Giliberto
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most severe form. Despite the fac
Externí odkaz:
https://doaj.org/article/9670f28779b84c91968bfc80279f7db4
Autor:
Chiara Mazzanti, Liliana Francipane, Carlos Daniel de Brasi, Leonela Natalia Luce, Florencia Giliberto, Sebastián Menazzi, Pablo Lapunzina, Irene Szijan, Micaela Carcione, Liliana Carmen Rossetti, Julián Nevado, M. M. Abelleyro, Pamela Radic
Publikováno v:
Neuromuscular disorders : NMD. 31(3)
This work describes a family with Duchenne muscular dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary aim was to suggest the molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f72edb5b82728a83bb2bea130fd931f
https://pubmed.ncbi.nlm.nih.gov/33451931
https://pubmed.ncbi.nlm.nih.gov/33451931
Autor:
Leonela Luce, Miguel Abelleyro, Micaela Carcione, Chiara Mazzanti, Liliana Rossetti, Pamela Radic, Irene Szijan, Sebasti n Menazzi, Liliana Francipane, Juli n Nevado, Pablo Lapunzina, Carlos De Brasi, Florencia Giliberto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a992f352db222400b70a2105183cc17
https://doi.org/10.22541/au.159242061.16003967
https://doi.org/10.22541/au.159242061.16003967
Autor:
Florencia Giliberto, Alberto Dubrovsky, Lilia Mesa, Jose Corderi, Micaela Carcione, Leonela Natalia Luce, Chiara Mazzanti
Publikováno v:
Neuromuscular Disorders. 31:S83
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0c927fd3ac19af8145e79f4f20c088b
https://doi.org/10.1016/j.nmd.2021.07.139
https://doi.org/10.1016/j.nmd.2021.07.139
Autor:
Marcela Maria Ferrer, Florencia Giliberto, Irene Szijan, María Micaela Carcione, Chiara Mazzanti, Leonela Natalia Luce
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee85e19ce00931deca2b1cea1ec920fb
https://www.sciencedirect.com/science/article/pii/S0960896618301202
https://www.sciencedirect.com/science/article/pii/S0960896618301202
Autor:
Leonela Natalia Luce, Chiara Mazzanti, Florencia Giliberto, Lilia Mesa, Alberto Dubrovsky, Micaela Carcione
Publikováno v:
Neuromuscular Disorders. 28:S99-S100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::282de6b720cf4d329acd5f711f9ddf75
https://doi.org/10.1016/j.nmd.2018.06.271
https://doi.org/10.1016/j.nmd.2018.06.271