Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Iria González-Dopeso Reyes"'
Autor:
Saja Fadila, Bertrand Beucher, Iria González Dopeso-Reyes, Anat Mavashov, Marina Brusel, Karen Anderson, Caroline Ismeurt, Ethan M. Goldberg, Ana Ricobaraza, Ruben Hernandez-Alcoceba, Eric J. Kremer, Moran Rubinstein
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 12 (2023)
Dravet syndrome (DS), an intractable childhood epileptic encephalopathy with a high fatality rate, is typically caused by loss-of-function mutations in one allele of SCN1A, which encodes NaV1.1, a 250-kDa voltage-gated sodium channel. In contrast to
Externí odkaz:
https://doaj.org/article/2ad9803b50ee4a45bf9f3b05e52e1d3d
Autor:
Saja Fadila, Bertrand Beucher, Iria González-Dopeso Reyes, Anat Mavashov, Marina Brusel, Karen Anderson, Ethan M Goldberg, Ana Ricobaraza, Ruben Hernandez-Alcoceba, Eric J Kremer, Moran Rubinstein
Dravet syndrome (DS), an intractable childhood epileptic encephalopathy with a high fatality rate, is caused by loss-of-function mutations in one allele of SCN1A, which encodes NaV1.1. In contrast to other epilepsies, pharmaceutical treatment for DS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72691a94805594806949f590f1bdc0ab
https://doi.org/10.1101/2022.06.10.495591
https://doi.org/10.1101/2022.06.10.495591
Autor:
José Ursic-Bedoya, Carine Chavey, Guillaume Desandré, Lucy Meunier, Anne-Marie Dupuy, Iria Gonzalez-Dopeso Reyes, Thierry Tordjmann, Eric Assénat, Urszula Hibner, Damien Gregoire
Publikováno v:
Molecular Metabolism, Vol 60, Iss , Pp 101483- (2022)
Fibroblast growth factor 19 (FGF19) is a hormone with pleiotropic metabolic functions, leading to ongoing development of analogues for treatment of metabolic disorders. On the other hand, FGF19 is overexpressed in a sub-group of hepatocellular carcin
Externí odkaz:
https://doaj.org/article/1d7e3ce950e14442905c29985dc907e4